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Systemic Capillary Leak Syndrome

What is Systemic Capillary Leak Syndrome?

Systemic Capillary Leak Syndrome (SCLS) is an exceedingly rare, life- and limb-threatening disorder characterized by acute and severe recurrent attacks featuring a rapid fall in blood pressure due to the temporary leak of plasma out of the blood circulatory system.

This virtual community is dedicated to the memory of Judith (Judy) Lynne Davis (1958-2009) (judithdavis3), one of its founding members and a victim of a very severe episode of SCLS that took her life in November 2009.

We also mourn the death of six other SCLS patient members of this community: Mario Gatto (mariogatto) from Naples, Italy, who passed away in December 2009; Denise Weston (mdweston) from Ohio, USA, who died in March 2011; Bruno Galien (bruno) from Nord-Pas-de-Calais, France, who passed on in February 2012; Guy Allen Overland (allenoverland) from the Washington DC area, USA, who died in January 2015; Marilyn Meaux (maire602) from Louisiana, USA, who passed away in March 2017; Julie Eady (jodono) from Perth, Australia, who died in September 2017; and Cara O'Hagan (Cara) from Dublin, Ireland, who passed on in February 2018.

 

Synonyms

  • Clarkson or Clarkson's Disease

Systemic Capillary Leak Syndrome (SCLS) is an exceedingly rare, life- and limb-threatening disorder characterized by acute and severe recurrent attacks featuring a rapid fall in blood pressure due to the temporary leak of plasma out of the blood circulatory system.

This virtual community is dedicated to the memory of Judith (Judy) Lynne Davis (1958-2009) (judithdavis3), one of its founding members and a victim of a very severe episode of SCLS that took her life in November 2009.

We also mourn the death of six other SCLS patient members of this community: Mario Gatto (mariogatto) from Naples, Italy, who passed away in December 2009; Denise Weston (mdweston) from Ohio, USA, who died in March 2011; Bruno Galien (bruno) from Nord-Pas-de-Calais, France, who passed on in February 2012; Guy Allen Overland (allenoverland) from the Washington DC area, USA, who died in January 2015; Marilyn Meaux (maire602) from Louisiana, USA, who passed away in March 2017; Julie Eady (jodono) from Perth, Australia, who died in September 2017; and Cara O'Hagan (Cara) from Dublin, Ireland, who passed on in February 2018.

Acknowledgement of Systemic Capillary Leak Syndrome has not been added yet.

Less than one in 1 million people are affected by this disease.

Name Abbreviation
Clarkson or Clarkson's Disease Clarkson

Systemic Capillary Leak Syndrome (SCLS) is idiopathic, and thus at present there are no known causes. Probably a mid-life gene mutation takes place that renders those affected vulnerable -- possibly immune-deficient in some way -- to these curiously self-reversing capillary leaks.

Many patients report having a runny nose, flu-like symptoms, gastro-intestinal disorders, a general weakness or pain in their limbs, swelling in the face or hands and feet, or very cold hands and feet, but others get no particular or consistent warning signs.

Name Description
Swelling swelling
Myalgia Myalgia is muscle pain
Rhinorrhea Rhinorrhea is a runny nose
Dizziness Dizziness
Lightheadedness Lightheadedness
Hypotension Hypotension is abnormally low blood pressure
Hemoconcentration Hemoconcentration is the decrease of the fluid content of the blood, with increased concentration of formed elements
Hypoalbuminemia Hypoalbuminemia is low levels of protein in the blood
Nausea Nausea
Excessive thirst Excessive thirst
Generalized edema Generalized edema
Decline in clinical picture Clinical picture declines rapidly within hours
Cold limbs and sweating Cold limbs and sweating
Rapid swelling and compartment syndrome Rapid swelling of all limbs with development of compartment syndrome, especially during IV fluid administration
Decreased urine output Decreased urine output
Vomiting Vomiting
Intestinal cramps Cramps
Diarrhea Diarrhea
Fatigue Fatigue
Headache Headache

The diagnosis of SCLS is made partly by exclusion, namely, by eliminating the possibility of other more common diseases, and is based on measurable, clinical symptoms such as hypotension, hemoconcentration, hypoalbuminemia, and the presence of a protein called Monoclonal Gammopathy of Unknown Significance (MGUS).

Diagnostic tests of Systemic Capillary Leak Syndrome has not been added yet
  • Methylprednisolone 125 mg IV STAT, repeated as needed.
  • Judicious use of IVF boluses and drips to keep CVP above zero.
  • Phenylephrine or Norepinephrine for hypotension, early institution.
  • 50 ml of 25% albumin, repeated as needed.
  • Continuous CVP monitoring, stat and serial lab work including CPK and lactate.
  • Immediate Orthopedics consult and compartment pressure measurement; early, preventive limb fasciotomies if compartment pressures or CPK high. 
  • Venous Doppler for DVT, may need full anticoagulation.

Treatment of a fully developed SCLS episode requires recognition that there are two phases. The first phase, which often lasts a couple of days, is called the resuscitation phase because the dual aim of ER/ICU treatment is to stop or control the capillary leak and to raise the patient's blood pressure from near zero. In this initial phase, an albumin and fluid leak from the capillaries into the tissue spaces causes swelling, especially into the extremities rather than the abdomen or organs (such as the lungs). The blood pressure falls and the red cells concentrate. This loss of fluid has similar effects on the circulation as dehydration, slowing both the flow of oxygen carrying blood to tissues and the output of urine.

Glucocorticoids (steroids like methylprednisolone) are recommended to reduce or stop the capillary leak, and albumin and colloids usually help to increase the remaining blood flow to vital organs like the kidneys. Keeping up with the fluid loss is important because sustained low blood pressure can damage vital organs such as the kidneys. Even though blood pressure readings may reach and remain at very low levels, it is important to avoid overly aggressive intravenous fluid administration causing massive swelling of the extremities.

The goal of saline and vasopressors administered should NOT be to restore a "normal" blood pressure (or urine flow), but to maintain it at a minimal level sufficient to avoid permanent damage to vital organs. Measurement of central venous or arterial pressure in an ICU setting is often necessary to achieve this delicate balance. When too much fluid is administered, the result is excessive swelling, and the patient may well require surgical decompression of the limbs. In this procedure, known as a fasciotomy, the skin of the arms and/or legs is incised to release the compressive pressure the retained fluid is having on blood flow to and from the extremities.

The second phase of the treatment is known as the recruitment phase, when fluids and albumin are reabsorbed from the tissues during at least a couple of days. In this phase, the capillary leak has ended and the main threat is fluid overload. If intravenous fluids were given in excess, they usually cause an accumulation of fluid in the lungs and around other vital organs. Most of the patient deaths happen during this recruitment phase so it is important that diuretics be administered to help patients discharge all the fluid previously given -- and to keep them from backing up, especially into the lungs.

As concerns episode prevention, two approaches have been tried: β-agonists like theophylline and terbutaline, and a prophylaxis with IVIG infusions. In recent years, more and more patients have been migrated from the former to the latter in Canada, Europe, the United States and beyond, because IVIG therapy leads to superior results -- no episodes or fewer and lighter episodes than compared to no therapy or the other therapies -- and does not have as many adverse side effects as does treatment with β-agonists like theophylline and terbutaline.

The prognosis is uncertain and depends on (a) how well episodes are managed, in terms of preventing permanent damage to vital organs and extremities; and (b) the ability to prevent episodes altogether.

There are two main treatments to prevent episodes of SCLS. The oldest is the Mayo Clinic’s approach of a preventive therapy with theophylline (or aminophylline) and terbutaline tablets taken on a daily basis. However, these medications, meant to reduce endothelial hyperpermeability, have very unpleasant side effects, and often prove ineffective, providing partial and transient improvement.

The newest is the French preventive regimen, which involves monthly infusions of immunoglobulins (IVIG). There is growing evidence that IVIG (usually, 2 gr/kg per month, administered over two consecutive days) has worked for many patients in Europe for over 10 years now, and is proving extremely successful among patients who have tried it in North America and beyond in the past several years, thus having become the standard of care.

Name Description
Medical help

Find yourself a compassionate physician, preferably a specialist in internal medicine or hematology affiliated with a major university hospital, willing to do his/her homework on this rare disorder (namely, read the literature and follow the instructions), and willing to consult with the few SCLS experts available:

In the United States,
Dr. Mark S. Pecker,
Professor of Clinical Medicine;
Weill Cornell Medical College,
New York, NY,
tel. 646-962-2605,
email mpecker@med.cornell.edu ;

in Europe:
Prof. Zahir Amoura,
Département de Médecine Interne,
Hôpital de la Pitié-Salpêtrière, Bd. de l'Hôpital 83, Paris 13e,
tél. 0033 1 42 17 80 81,
email : zahir.amoura@aphp.fr

Clinical Study Volunteer
Patients who have been diagnosed as having SCLS and who are at least 16 years old are wanted for participation in the only scientific study of the illness taking place anywhere in the world: at the National Institutes of Health in Bethesda, MD, right outside Washington DC. You must have a documented medical history including at least one acute episode of SCLS or else continuous symptoms of periodic hemoconcentration, hypotension and protein leakage. Have your primary doctor contact Ms. Linda Scott at LMScott@niaid.nih.gov, before sending in the requisite letter of referral with your medical history and laboratory studies to the lead clinical investigator, Dr. Kirk Druey, kdruey@niaid.nih.gov, tel. 301-435-8875. Once accepted into the clinical research study, you will be invited to come to NIH and spend about 4 days there for the purpose of being examined, donating blood, and being subjected to various tests (e.g., clinical digital photography of your blood vessels). Depending on circumstances, you probably will have time off to do sightseeing in the capital area during your stay at NIH. Those who wish to be greeted in person during their stay by this community's Expert, please contact aporzeca@american.edu

 

Please see the Disorder Resources section.

Celebrating our 10th Anniversary, Part 3 Created by aporzeca
Last updated 20 Jul 2018, 04:24 PM

Posted by Lolaudesi
20 Jul 2018, 04:24 PM

that important for all the advance in knowledge ... we must go for more! I am a doctor and until the day my husband was diagnosed after 3 episodes ... I had never heard the syndrome. My husband was 3 times in therapy and just the last one a doctor who had had a patient with this syndrome a few years ago made the diagnosis ... we were lucky

Posted by aporzeca
20 Jul 2018, 11:45 AM

Another of the great untold stories of this community is how we have helped to increase awareness of SCLS, thereby encouraging recognition of this illness and the administration of helpful episode-management and preventive treatments.

When I first looked up information on SCLS in early 2006, there were dozens of medical articles reporting on the phenomenon, but they provided little insight into the syndrome, and weren’t of much help in terms of coping with it. Moreover, the articles were mostly all brief clinical observations of individual cases from which it was difficult to generalize, and there were no reports of clinical trials or laboratory research on SCLS.

There was no mention of the illness in medical encyclopedias, the highly reputable websites of the U.S. National Organization for Rare Disorders, the Mayo Clinic, the U.S. National Institutes of Health, or their equivalents elsewhere in the world – and there wasn’t even an entry for SCLS in Wikipedia. I remember becoming discouraged: it was bad enough that I had a rare disease, but did it have to be one so exotic that it wasn’t even listed in the leading rare-disease databases and websites? Fortunately, I and other SCLS patients became motivated to do something constructive about the lamentable situation.

Poor awareness of SCLS within the medical community meant that patients would frequently go two or more years without receiving a correct diagnosis, thus being exposed to inadequate or counterproductive therapies for their death-defying episodes. This unfortunate situation was illustrated by the personal tales of woe supplied by the early members of our RareShare SCLS community, whether in their profiles or their comments in this Discussion Forum section.

And yet these misdiagnosed, poorly treated patients were the relatively lucky ones, because despite having emerged with disfiguring scars, physical disabilities, and mental anguish, they had managed to survive their episodes. The truly unlucky ones were the unrepresented patients who had died during their first episodes, and my guesstimate is that in those early days (early 2000s) of little awareness of SCLS among physicians we probably lost a significant proportion of SCLS patients to incorrect diagnoses and improper treatments.

This has all changed for the better in recent years, and our RareShare community has played a constructive role in this outcome, to the benefit of existing and new patients. Whereas in the decades prior to 2006 there had been 75 medical articles published mentioning SCLS, since 2006 nearly twice as many such articles have been published – and they are better articles, because they build on prior basic knowledge, examine the performance of cohorts of patients over time, or include the first results of novel biomedical research.

It is several years now that SCLS is described in medical encyclopedias, the websites of the U.S. National Organization for Rare Disorders, the Mayo Clinic, the U.S. National Institutes of Health, and their counterparts elsewhere in the world, and there is now an informative entry for SCLS in Wikipedia, which in turn has generated other mentions of SCLS on the Internet. In many cases this is the result of my own prodding of physicians I’ve been in contact with, or even my own ghostwriting, including for the Wikipedia entry. But parallel contributions were made by several early members of this virtual community, and also by others who aren’t members, who volunteered to shed their privacy rights and appear on medical TV shows, local newspapers, or else to post videos and other informative commentary about SCLS on the Internet. Every one of these disparate efforts helped the cause.

Nowadays most patients seem to be diagnosed during or after their first – or at most second – episodes, after which they are fast-tracked to the best treatment available – the administration of immunoglobulins. They think they have it bad, but they have no idea how much better off they are relative to those who had our first episodes in the early 2000s (or before) and had to wait long for a proper diagnosis and then for effective treatment.

And yet, we still lose some patients going through their first episodes of SCLS, as illustrated by postmortem medical articles published so far in 2018, like this (about a deceased young female in Germany) and this (a deceased middle-aged female in the United States). It is a lamentable fact that SCLS is still killing first- or second-time patients, or is still disfiguring and/or disabling survivors – mainly because too many physicians fail to make the right diagnosis early on.

One technical obstacle to the diffusion of knowledge about, and appropriate treatment of, SCLS is that the syndrome has not had a unique ICD number assigned to it. The International Classification of Diseases (ICD), which is sponsored by the World Health Organization (WHO), is a tool for recording, reporting and grouping conditions and factors that influence health. It has become the international diagnostic classification for all general epidemiological and many health management – including physician and hospital billing – purposes. The current version of the ICD is the 10th edition and is known as ICD-10; countries have been adopting it since 1999, with the United States doing so in 2015.

Because SCLS has no unique ICD number, when physicians and hospitals treat a patient with SCLS, they enter a non-specific code like 10-I78.8, “Other diseases of capillaries,” or else they enter 10-I78.9, “Disease of capillaries, unspecified,” into their billing and reporting records. In doing this, however, healthcare providers create billing inconsistencies and reimbursement difficulties; make it impossible to identify and track SCLS patients; and prevent easy matching of condition-specific diagnosis, research, and treatments with the appropriate patients.

Therefore, two years ago I launched an initiative to get SCLS an ICD number for the next, 11th edition, which the WHO is expecting governments to approve and roll out starting in 2022. (A first version of ICD-11 was released this June.) To make a long story short, the WHO decided that SCLS is too rare an illness to deserve a unique code of its own, but at least it has been added to the list of identified conditions under “Diseases of the Circulatory System” (Chapter 11), “Diseases of Arteries or Arterioles,” “Other specified diseases of arteries or arterioles,” where SCLS will be listed as one of the options under 11-BD5Y. (Search for it here.) This is certainly a better outcome than for SCLS not to figure anywhere within the ICD classification, which is the situation we have now.

Celebrating our 10th Anniversary, Part 1 Created by aporzeca
Last updated 20 Jul 2018, 03:08 PM

Posted by davec
9 Jul 2018, 06:16 PM

This site has been a Godsend for those of us who wonder what we have and whether there is any medical solution to help us. Dr. Kirk Druey and Arturo helped me and my doctors figure out a plan that would stabilize my health. And it worked. I am grateful to them but also to those who have joined our site and offered advice to help me and many others through this health crisis. David

Posted by Lolaudesi
9 Jul 2018, 02:18 AM

Today 1 year ago my husband's diagnosis, arielbatt, when I started looking for this disease on the internet was very distressing, but after a few days I discovered this forum, I remember that Ariel was in intensive care, I was beside him and could not stop reading all the information here you will find ... it was a salvation. It was a great help and guide for doctors too. ARturo, we are very grateful for all the work and dedication.

Posted by aporzeca
8 Jul 2018, 07:06 PM

I started this SCLS virtual community a decade ago, in June 2008, so I think now is an appropriate time to celebrate this decade-long achievement by sharing some reflections on how far we’ve come and where I see us evolving in the future.

I had my first, devastating episode of what turned out to be SCLS in November 2005, shortly after I celebrated my 56th birthday, and I was very lucky to be diagnosed properly right after.

At the time, being diagnosed with SCLS was pretty much like getting a death sentence, the only unknowns being when “the episode to end all episodes” would come, and how much pain, suffering and disability one would have to endure in the meantime. It also meant great disruption of one’s ability to hold a job, because of the episodic nature of the syndrome and its debilitating and disabling consequences, with negative repercussions also on one’s family and friends.

In the months that followed, I got in touch with Dr. Philip Greipp, then a professor of medicine and hematology at the Mayo Clinic, who was the person most knowledgeable about SCLS in the United States. He had seen almost twenty patients during his long professional career, and he had published about SCLS on three occasions.

My doctors had previously reached out to him for advice on how best to treat me -- at the time (2006), the standard of care was to prescribe high doses of theophylline and terbutaline, medications with terrible mood-altering and other side effects -- to prevent, or at least minimize, the episodes typical of SCLS. A retrospective review of the Mayo Clinic’s experience with twenty-five SCLS patients managed mostly with theophylline and terbutaline, which was published in 2010, stated that only one-fourth of them experienced a "sustained" (defined as at least two years’) remission of symptoms -- meaning, three-fourths of patients went on to have still more episodes.

But I contacted Dr. Greipp for another reason: to tell him that I very much wanted to reach out to other SCLS patients he had met, for the purpose of exchanging information and finding community with them, and thus I asked him to pass on my contact information to the patients with whom he was still connected. And this he did: in the months that followed, Dr. Greipp gave my name to Judith (Judy) Davis (judithdavis3), a pediatric nurse from Baltimore, and she and I met in person and became friends, and in subsequent months we followed up with other Greipp-referred patients like Marianne (from Cincinnati, Ohio), Russell (from upstate New York), and Glenn (from North Carolina), with whom we stayed in contact via phone and email.

However, this small group of fellow SCLS patients would soon fall apart, because Marianne, Russell, and Glen who would go on to die in late 2007 or early 2008 from SCLS-related episodes or complications. Their death brought home to us our own mortality, and Judy and I felt very lonely -- as if we were the last two SCLS patients left on this planet -- and no matter how much we tried to comfort one another, we knew that in order to find some answers, and to bolster our emotional sanity, we had to find another way to get in touch with other survivors of SCLS in the United States and beyond.

A ray of hope opened in May 2008, when I got an email message from RareShare’s founders inviting me to explore and use the newly launched platform rareshare.org. I have no idea how they got my email address, but as soon as I checked out the site, I decided to start an SCLS virtual community as a means of reaching out to other SCLS patients around the world. And of course, Judy joined right away, and for a while I would post something and she would post a comment, or else she would post something and I would post a comment.

Incidentally, the platform that is RareShare was built from scratch in early 2008 by two generous, idealistic men in their twenties named David Isserman and Eric Steele, on the thought that there should be a better way to bring together rare-disease patients, families and healthcare professionals to share knowledge and personal experiences and find emotional support. They never intended to make any money from this platform (e.g., by selling advertising space) -- and sure enough, they never did.

[In 2014, Isserman and Steel transferred the rights to RareShare to the Rare Genomics Institute (RG, see https://www.raregenomics.org) and moved on with their lives. The new owners, principally Dr. Jimmy Lin, president and CEO of RG, then underwrote the new and improved version of the RareShare platform we now enjoy, built by gallant volunteers that he recruited, which was rolled out in March 2017].

Within a few months, Judy and I were joined by a handful of SCLS-afflicted people which included Wendy Peterson and her husband (and patient) Nolan (nwbsaw), from a small city in Idaho; Claude Pfefferlé (claude53), a patient who is also a physician based in a small city in Switzerland; Josée Lizotte (josee), from a small town in northwest Quebec; and Jeff Isenhour (jisenhour) from the Washington DC area. (More on them and their important role later.)

Dr. Greipp was kind enough to join in -- to lend us his moral support, mainly. The community’s humble but hopeful origins were chronicled in an article that appeared in early 2009 in the Health section of The Washington Post available here or at http://www.washingtonpost.com/wp-dyn/content/story/2009/02/09/ST2009020901167.html

It took two years that seemed an eternity -- namely, until June 2010 -- for membership in this SCLS virtual community to take off and reach 100, among them about twenty confirmed patients, and that was quite an accomplishment. After all, SCLS is exceedingly rare -- it is estimated to be a one-in-a-million condition -- and most of the world's inhabitants do not read English, many still do not have access to the Internet, and quite a few have not yet discovered, or have not wanted, to join this community.

Over the past decade, our RareShare virtual community has turned out to be successful beyond my most optimistic dreams. And I measure success not just by the relatively large number of members (about 350) we have attracted, which is quite a lot considering that SCLS is ultra-rare, and not just by the over 400 informative discussion topics we have generated.

Rather, I measure success by the great emotional support we have provided to one another, and by the dissemination of very useful information on diagnostic, management and treatment aspects of SCLS, which have had a huge limb- and life-saving impact on dozens of SCLS patients around the world -- as many of you have let me know through this platform or privately.

But let's admit that we all owe huge debt of gratitude to David Isserman and Eric Steele, in the first place, and to Dr. Jimmy Lin, without whom our virtually community (a) might not have come into existence or (b) might not have survived.

Part 2 tells the story of the discovery and early dissemination of IVIG therapy for SCLS; Part 3 covers the initiatives to expand awareness of SCLS; and Part 4 discusses steps taken to widen access to IVIG for as many SCLS patients as possible.

Celebrating our 10th Anniversary, Part 2 Created by aporzeca
Last updated 19 Jul 2018, 05:55 AM

Posted by Nhan Nguyen
19 Jul 2018, 04:33 AM

It's so moving reading all this journey and seeing how everybody has struggled to survive.

I find myself like Aporzeca 10 years ago when trying to get contact with doctors/authors of reports in Korea, Japan,... parents of SCLS kids just to know how they are going on. But none of them replied except Dr. Druey, Arturo, leilasmom31 whose daughter is getting subq igg now.

I'm so grateful to Dr. Druey and Aporzeca for your efforts to this rare community so far. Hope to read your Part 3 soon. I also hope that, in the next 10 year, there would be more solutions and less expensive treatment therapy!

Could you pls. send me the latest published article about 32 cases of SCLS kids? (Email: nhannguyenhien@gmail.com)

By the way, has anybody (SCLS kid patient) get blood test of family member to send to Dr. Druey for further research?

Posted by Lolaudesi
11 Jul 2018, 01:07 AM

es emocionante leer toda la historia, gracias por compartirla

Posted by aporzeca
10 Jul 2018, 05:47 PM

One of the great untold stories of this community is its role in finding and disseminating information about what has become the best preventive treatment for episodes of SCLS: intravenous immunoglobulins (IVIG, also available in smaller doses delivered subcutaneously, usually in children with SCLS).

In mid-2006, two years before RareShare and our SCLS community came into existence, I took the initiative to contact all the physicians who had published case reports or other articles on SCLS, to find out if they had learned anything new that might be valuable to us survivors -- something that they had not yet made known to the rest of the world. I dug up or guessed the email addresses of the lead authors of medical articles on SCLS published since the 1980s, and sent them a message introducing myself as an SCLS patient who had been encouraged by his physicians to contact them in search for any and all additional information on the condition that might not yet have been published -- for example, because of the time lags involved in running clinical trials.

Most of the physicians did not reply or did so merely to say that they had not done any further work on SCLS. Typically, they had just treated the one patient they had published about, and that had been it. But I was stunned when I received a substantive reply from a physician and professor of medicine in Paris, Dr. Zahir Amoura, who was then -- and still is -- on the staff of the largest hospital in France, the Hôpital Universitaire Pitié-Salpêtrière. It is a renowned public facility which serves as the teaching hospital for the Sorbonne’s medical school.

In 1997, Amoura and a dozen fellow doctors from around France had published an article reporting on the (until then) largest cohort of SCLS patients -- thirteen -- concluding that “no prophylactic therapy, including terbutaline associated with aminophylline [theophylline], has clearly proven its efficacy in treating SCLS.” The article reported that IVIG had been administered to two of the 13 patients, but that they had continued to have episodes “though they seemed milder.”

However, Amoura’s reply to me in June 2006 -- namely, almost a decade later after his article -- included the following tantalizing statement: “We have now enough patients to compare those who received IVIG to those who were not treated (the control group), and while I cannot firmly conclude, it seems that the results obtained with IVIG are interesting.” However, Amoura made it clear in his email that he would not write about or otherwise disclose the results of his experiments with IVIG until a scientific manuscript was eventually written and duly published.

The Mayo Clinic’s Dr. Greipp and I then followed up with Amoura in subsequent months, inviting him to meet with us to discuss further his findings, especially if he ever visited the East Coast of the United States. And so it was that on his way to a medical conference in Boston in November 2007 -- namely, a year-and-a-half after his intriguing reply to my original email -- Amoura did stop by in New York and met with me and my fellow SCLS patient Judy Davis. (Unfortunately, Dr. Greipp could not attend this meeting.) At that face-to-face encounter, Amoura revealed much greater confidence that IVIG treatments were key to stopping episodes of SCLS, but he again refused to put anything in writing pending the outcome of his experiments and the publication of his results, which he estimated would happen the following year (namely, in 2008).

During 2007-08, namely in the run-up to the founding and take-off of this virtual community, Judy and I continued to endure limb- and life-threatening episodes of SCLS, but we couldn’t act on the encouraging but unofficial news about the success of IVIG treatments that Amoura had given us. The reason was that our doctors, with whom we had shared the information, had told us that it would be impossible to convince our medical insurance companies to cover an expensive, experimental treatment with IVIG until there was at least one convincing scientific article from Amoura or someone else proving the effectiveness of IVIG for SCLS. In the meantime, they said, we would have to endure more episodes, building a track record that would demonstrate the futility of the Mayo Clinic’s recommended treatment with theophylline and terbutaline.

The outlook for SCLS patients around the world began to change for the better in the second half of 2008, when one of the French physicians (Pierre-Yves Hatron) who had collaborated with Dr. Amoura, broke with him and decided to reveal to the world the good news about IVIG for SCLS. He did so by reporting on three SCLS patients treated successfully with IVIG in Lille, a city at the northern tip of France. The resulting article in the July 2008 edition of the journal Critical Care Medicine said it all in its title: “High-Dose Intravenous Immunoglobulins Dramatically Reverse Systemic Capillary Leak Syndrome.”

It was on the back of this newsworthy article that the physician in Quebec who had been treating Josée Lizotte unsuccessfully with theophylline and terbutaline decided, in August 2008, to start treating her with IVIG -- and the good results obtained made themselves evident immediately. To my knowledge, Josée was the first SCLS patient in the Western Hemisphere to be treated with IVIG for SCLS, and Judy and I found out about her encouraging experience thanks to the newly founded RareShare site which she joined early on. Her physician, Dr. Sepehr Javaheri, would go on to write a testimonial letter about the case which eventually would help me and other SCLS patients get insurance coverage for our first infusions of IVIG.

Cheering us on from the sidelines through the newly inaugurated RareShare site was Claude Pfefferé, the physician-SCLS patient from Switzerland. He was part of the group of French and other European patients being treated and monitored by Dr. Amoura, and he had been put on IVIG starting in April 2005 after failing various other therapies including theophylline and terbutaline. While we were anxiously waiting for Amoura’s article to be published, Claude provided us his own, first-person testimony about the effectiveness of IVIG. He urged us to insist with our doctors and insurance companies that they should give IVIG a try, because the results would quickly speak for themselves. Claude even wrote to Dr. Greipp at the Mayo Clinic to tell him of the smashing success of IVIG therapy in his case and among Amoura’s other patients, thus presenting him with a better alternative to the theophylline and terbutaline cocktail that Mayo had long promoted.

It was also thanks to that important first article about IVIG for SCLS that Nolan Peterson eventually (in July 2009) persuaded his doctor in Iowa to start treating him with IVIG, given that all other therapies had also failed for him, and he was having weekly episodes. Nolan found out about the June 2008 article upon joining our RareShare community, and to my knowledge, he was the first SCLS patient in the United States to be treated with IVIG, likewise with immediate, positive results.

My turn finally came in November 2009, by which point it had become evident that my treatment with theophylline and terbutaline was also a failure: I was having episodes every other week, up from once a quarter at the start of the year. In addition to the July 2008 article, I had gathered for my insurance company several supportive, testimonial letters from different physicians, among them one I never expected to obtain: it was from Dr. Greipp himself, on Mayo Clinic stationery. Despite his long advocacy of theophylline and terbutaline as the best treatment for SCLS, Greipp was moved to change his mind by the 2008 article and the experiences of Claude, Josée and Nolan, as told in RareShare, to the point that he wrote a formal letter recommending that I be covered for IVIG. I’m sure it was very influential.

As concerns Dr. Amoura’s long-awaited article discussing his encouraging experience with IVIG for SCLS, it was finally published in April 2011 -- an interminable five years after he had written to me saying that “the results obtained with IVIG are interesting.” If it weren’t for the more limited but hugely revealing article that one of his colleagues had published three years earlier, chances are that Josée, Nolan, I and many others would have long been dead by April 2011.

In fact, it is a great shame that my best SCLS friend and RareShare partner, Judy Davis, died in November 2009 before becoming the beneficiary of IVIG treatments. She suffered a massive episode of SCLS and succumbed in the hospital the same week that I was in another hospital not too far away, going through what would turn out to be my last episode of SCLS -- because I was receiving my first infusion of IVIG in the nick of time.

Cerebral involvment Created by CaroleTT1222
Last updated 9 Jul 2018, 10:40 AM

Posted by krogers
9 Jul 2018, 07:52 AM

After my first attack in 2008 I developed excruciating headaches & pain on sides of my forehead - it was terribly depilating and the nights were a nightmare.

In hospital I was on morphine but the doctors could find little wrong apart from faint signs of inflammation.  Just as a stab in the dark I was given a strong dose of steroids - it was incredible the pain just melted away in 48hr.

I still sometimes get similar head pain but it passes.  Also suffer a little from a fuzzy head but have always put this down to the medication I am on for nerve damage. I am also finding my memory is deteriorating - as a teacher for example I am struggling to remember the students names which can be really embarassing.

Posted by Kimmieroumayah
16 Jun 2018, 01:13 AM

Hi,

Have you tried a CPAP?  I do suffer cerebral symptoms associated with Capillary Leak.  I have migraine headaches,I pass out with out any warning while standing or sitting.  I have broken my ribs, broken my two front teeth, suffered a gash on the side of my head and planted my face into a plate of Eggs Benedict.

 I currently have an ulcer on my right cornea. The eye specialist explained the cause could be hypoxia.  I sleep on my right side and when I am lying down it is possible that my head does not receive enough O2 .  This can cause a gland  above the outside edge of the eyebrow that secrets fluid to become inflamed and function improperly leading to dry irritated eyes and a cornea that forms blood vessels, ulcers and eventually scars.  I have found that the CPAP does help.

Kimberly

Posted by Rita Wood
22 May 2018, 11:28 PM

I has off IVIG for one year and it resulted in a live threatening attack. I would work with your doctors let them know your symptoms are back. It is far to dangerous to wait.

View Full Thread (1 more posts)
Advice Created by Maccy80
Last updated 27 Jun 2018, 04:55 PM

Posted by aporzeca
27 Jun 2018, 04:55 PM

Melanie,

My heart goes out to you and those like you who have children with SCLS.  The condition is bad enough for those of us who are adults, but at least we have a much shorter window of life expectancy than do children, all else being equal.  Moreover, many of us have already buried our parents, so at least they don't have to keep worrying about us like you worry about your son.

A dozen years ago, the state of knowledge was such that SCLS was believed to be purely an adult condition that struck when one was in the late 40s or 50s, and I was a typical case with my first episode presenting just after I turned 56 years of age.  However, now we know that SCLS afflicts people of all ages, including children, though men and women in middle age do constitute the majority of reported cases. 

I now uploaded in the Disorder Resources section of this website the summary of a just-publshed article reviewing the evidence on SCLS in children, and it identified 32 cases that have been reported on in the literature worldwide.  The article doesn't have answers for your questions, but if you or anybody else would like to receive it for background purposes, let me know (at aporzeca@american.edu) and I will email it out forthwith.

Now, as to your questions, remember that while I've learned just about everything that is important to know about SCLS, and I keep myself very much up to date on the latest scientific and medical advances, I am not a physician and I am not otherwise licensed to provide medical advice.  You ask "Mainly [my son's] symptoms are fatigue, severe headcahes, sore throat, blocked/runny nose, cramps, nausea, diahhoera.  Are these symptoms of SCLS or Immunoglobulin therapy?"  You should seek an answer from an immunologist who has long experience treating patients with immunoglobulins for all sorts of conditions, but in my modest opinion, there is a third possibility and it is that the symptoms you cite may be neither caused by SCLS nor by immunoglobulin therapy. 

As to your other question, "His Dr. has suggested that they increase his SCig to see if it helps, but I am hesitant ... because I know that he will eventually have to go back on IVig and it made him very sick," I ask you to keep in mind two facts: (1) we still know very little about SCLS in children, so unless parents like you -- and adults like me -- are willing to experiment, we will never know what works and what doesn't; and (2) immunoglobuin therapy helps save millions of lives affected by various conditions every day -- including my life from SCLS -- so you should regard it as part of the solution rather than part of the problem if your son does have SCLS.  True, some people experience some undesirable side effects -- I'm lucky and don't experience anything beyond occasional post-infusion headaches -- but the benefit is no doubt life-saving and quality-of-life improving for the overwhelming majority of patients who receive Ig therapy for their proven conditions, including SCLS.

Besides, children change rapidly as their minds and bodies evolve and adapt, so just because your son reportedly reacted badly to IVIG five years ago doesn't mean that he will do so again now that he is a teenager.  Surely his body has gotten used to this blood product by now, so an increase in the dosage should not cause the same effects that it allegedly had when he was first exposed to IVIG -- and that's on the assumption that the IVIG, rather than something else, was the cause of his problems.  However, if you are convinced that the extra immunoglobulins he is getting are responsible for the health issues he is experiencing, well, there is one sure way to find out: discuss with your doctor the possibility of suspending his treatment altogether to see what happens next.  Maybe your son's problem is SCLS; maybe it is immunoglobulin therapy; but maybe it is something else entirely.

Posted by Maccy80
27 Jun 2018, 04:39 AM

It has been some time since I have posted, but I would like some advice from fellow sufferers about what course of action I should take next with regards to my son.  A quick background - 

  • My son was diagnosed with SCLS in February 2013 after a severe attack that was precipitated from having Influenza A.
  • By June 2013 he was placed on IVig therapy, which he recieved every 4 weeks (2mg per kg) 
  • IVig made him very sick and by 2014 he was put on Scig which he administers himself daily (1mg/kg)
  • 5 years later his dosage has decreased, he receives the same amount in mls but he now weighs more.  The Dr's had hoped that he might be able to be weaned off, and that he might outgrow the disease.  However, now that he is going into Puberty I am noticing that he is getting 'sick' more often.  

He has not had another major episode.  Mainly his symptoms are fatigue, severe headcahes, sore throat, blocked/runny nose, cramps, nausea, diahhoera.  Are these symptoms of SCLS or Immunoglobulin therapy?  His Dr. has suggested that they increase his SCig to see if it helps, but I am hesitant.  What should I do? (He is currently receiving 10mls daily or the equivalent of 0.3mg per kg, his Dr. wants to double this to 20mls daily) I am hesitant because I know that he will eventually have to go back on IVig and it made him very sick.  

Thanks

Melanie

Medical Insurance in US Created by rnuara
Last updated 16 Jun 2018, 12:02 AM

Posted by Kimmieroumayah
16 Jun 2018, 12:02 AM

Hi Robert,

Did you lose health care coverage for any reason that is related to your illness?  If you have become disabled due to this disorder you could apply for SSD. Applying for social security isn’t difficult the process is available online through the website but getting approval from SSD is difficult for some individuals. You are eligible for Medicare if you receive disability which is a decent form of health care. It was just a suggestion because this disorder is complex and can lead to disability. 

Kimberly

Posted by dallen
20 May 2018, 10:14 PM

So sad to hear this, best wishes and luck to all.

Posted by aporzeca
18 May 2018, 03:59 PM

Only one of the Obamacare Marketplace plans will take you because they must cover treatment for pre-existing medical conditions; I wouldn't expect that anybody else would, since they're going to lose lots of money covering you.

View Full Thread (1 more posts)
Relationship between triggers and infusion IVIG. Created by Arielbatt
Last updated 15 Jun 2018, 09:36 PM

Posted by Kimmieroumayah
15 Jun 2018, 09:36 PM

Hi Ariel,

In my case the answer is yes I receive IVIG infusions every other Monday and the triggers that you mention in your post still have the ability to trip a Capillary Leak episode. Certain situations that will absolutely set off an episode for me are Air Travel, Extreme Heat, Viral Infections, Emotional Stress, Exercise ( excluding moderate swimming), Foods that I am sensitive to ie. Soy and in general I have noticed that fasting while I am in Capillary Leak improves my symptoms. 

I should note that although I receive IVIG infusions the amount that I receive is close to half of the recommended dose. I also have long periods where I remain in Phase One of the Capillary Leak cycle and my Immunologist believes that I may have a Chronic form of the disorder. I hope my response was helpful. 

Kimberly

Posted by Arielbatt
9 Jun 2018, 11:26 PM

 

Dear all, for some time now I have been seeing the possible complications that trigger the Leak, air travel, cruises, extreme cold, extreme heat, viral diseases, psychic stress, stress / physical effort, height, foods, seasonings, paintings, etc. But none of the members who mentioned these triggers was infusing IVIG. Is this so, or am I misinterpreting the information ???? I thank you all take a few moments to give me your opinion. Please, ... I think it is vitally important that we agree on this point. Greetings, Ariel Battaglia

Do you get payment from insurance company for your IVIG infusion every month? Created by Nhan Nguyen
Last updated 9 Jun 2018, 11:23 PM

Posted by Arielbatt
9 Jun 2018, 11:23 PM

 

Dear, I hope that the google translator reflects my comments well, ... I deeply regret that not only have to deal with the horror of this disease but have to be fighting for a medication that empirically, at least, shows that it is by far the best treatment. I do not think he has any other option but to fight with all his strength to convince those who correspond to pay for the treatment. I would like to tell you that everything will fit into your child's body as their relatives think, but I do not believe in that theory at all. Nor do I believe that the solution is to go bankrupt, ... if I think you must have the necessary strength to hit every last door that exists that gives you the slightest possibility. I should be dead, my diagnosis was after repeated attacks, and the last one in mid-2017 had already advanced more than necessary and became technically unstoppable; but the doctors did not give up even when all the forecasts indicated that any effort would be in vain, ... and they pushed me forward. That, ... the determination of my doctors to fight and not surrender beyond the possibilities that we all know will most likely be scarce. Our greeting from Argentina. Ariel Battaglia

Posted by Nhan Nguyen
6 Jun 2018, 03:38 PM

Dear Arturo and others,

I'm going to take my son to hospital tomorrow for next IVIG infusion. The previous times was 7/3; 27/4 (one month and 20 days) and tomorrow 7/6 (1 month and 10 days). I did actually want to lengthen the time to see how my son's health react. He seems to be normal whether we take him to the hospital or not. I also wish to check his blood test before infusion so see the igg level go down or not. But his doctor says whatever the result is, the infusion is a must, so no need to test!

It seems that test is test only, you still need the monthly required infusion, even when your igg level is still high, right?

My son's doctor has recently contacted Dr. Druey and received his confirm regarding his diagnosis. It's really hard to accept this truth. We are going to participate in Dr. Druey's research project where we are recommended to send blood sample of all our family including my son, parents and his younger brother. Has anybody been the same?

In the meantime, our friends and relatives, who may not understand about this rare disease, suggest us why not stop it, why let our son depend on the medicine, and he is at adolescence age, he will outgrow it!! If one is over 25 years of age, so one may have to accept life-long treatment like that. Now your son is only 13 and he looks completely ok,….

Regarding the insurance, we are now still paying by ourselves and do not know how long we can continue, maybe 1 or 2 years after selling all our assets. While our son's life is ahead. We already talked with our doctor and ask for his help in raising voice when the annual insurance review comes. He said he would but not sure it works. Dr. Druey sugggested Sub Q igg which is cheaper. 

It's so ironically that many other rare diseases in Vietnam do not have medicine, they have to order from oversea or some are sponsored by the manufacturer. But IVIG is available there, in our hospital, without payment except in serious shock case.

We are still in the middle of nowhere and do not know how our future will be. Hope everybody the best!

Nhan Nguyen

Posted by AndreasGunsser
20 Mar 2018, 01:45 PM

Nhan,

The insurance company pays for the monthly infusions. The diagnosis „SCLS“ itself  is considered as severe illness and fulfills the mentioned  requirements. 

 

Regarding the private companies I agree with Arturo. And they definitely operate only in Germany. Even if a company with the same name operated in another country, they would have different conditions.

Good luck.

 

Andreas

 

View Full Thread (7 more posts)
Homeopathy and/or supplements Created by L
Last updated 20 May 2018, 11:29 AM

Posted by L
20 May 2018, 11:29 AM

Hello everyone,

‘just wondering if anyone takes supplements or receives any homeopathic treatment along with the IVIG. Also interested in any dietary restrictions. 

 

Lisa

 

new member Created by kenny1959
Last updated 15 May 2018, 01:42 AM

Posted by aporzeca
15 May 2018, 01:42 AM

Dee,

I did pursue the matter to the very end with the information you provided, and after a lot of back and forth I still wasn't able to figure out how Gene managed to get coverage for his infusions.  However, the country is divided up into 13 Medicare jurisdictions, each handled by a different private contractor -- and they rotate them after a few years -- so he may have gotten lucky in a way that others haven't been.

Posted by dallen
14 May 2018, 03:50 PM

Arturo, In June, 2016 I sent you Medicare Insurance coding information from my husband's (Gene Mahaffey) doctor. They provided it in order to help any other patients with SCLS and said it contained all the information and codes they used to receive approval from Medicare for my husband's many IVIG treatments. They even included name(s) for you to contact if you had any questions. Their only request was that only one person contact them as it is, in fact, a small doctor's office and they don't have the personnel to receive calls from multiple people. When I sent it to you it was with the understanding you would head it up for everyone.

Did it not work? Do I need to resend it? Just curious as to whatever happened with the situation.

 

Posted by aporzeca
13 May 2018, 11:37 PM

Welcome to our community, Annette!  There is a lot of information for you here, so take the time to acquaint yourelf with the sections "Community Details," "Disorder Details," and the last dozen or so threads under "Discussion Forum."

Please fill out your profile page providing as much detail as possible on how you came to be diagnosed with SCLS, because we are still learning from one another.  One thing you should know is that there are a number of swelling disorders which are NOT manifestations of SCLS.  Ours is an episodic disease where if there is swelling, it comes and goes within days -- but it does not linger.  Therefore, I suggest that you ask your main physician that he/she gather your medical history and send it to Dr. Kirk Druey at NIH -- see "Disorder Details" for his contact information -- in order for him to provide (or not) confirmation of your SCLS diagnosis.  The last thing you want is to be treated for the wrong illness!

As concerns procuring IVIG treatment, this is indeed the recommended preventive therapy for confirmed patients with SCLS, but it is not yet an FDA-approved indication, and thus, since IVIG is extremely expensive, it is often rationed or even denied.  In the case of the Medicare program for the elderly in the USA, up until now Medicare's contractors have routinely denied coverage of IVIG for SCLS, so the only ways to get it are (1) for your prescribing physician to make no mention of SCLS and attest that you have one of the several illnesses for which IVIG is FDA-approved; or (2) for your prescribing physician to make mention of SCLS, whereupon you may get the treatment but likely only by your assuming personal financial liability, followed by your having to appeal the Medicare denials that will come.

I am working on a solution to this problem with Medicare, so get in touch with me again if/when your SCLS diagnosis has been confirmed by Dr. Druey.

 

View Full Thread (1 more posts)
Community Podcasts
Title Description Date Link
Hospitals, Doctors, Medical Teams: Navigating Barriers of Rare Diseases (Patient Navigation)

Arturo Porzecanski, a rare disease patient and advocate, gives us some tips on navigating decisions involved in choosing hospitals, doctors, and medical teams.
Featuring Arturo Porzecanski (American University). (Music credit:www.bensound.com)

07/06/2017
Community Resources
Title Description Date Link
Idiopathic SCLS (Clarkson syndrome) in childhood

The authors performed a systematic review of the literature on Clarkson syndrome in subjects less than 18 years of age, and identified 24 reports, published since 1989, providing data on 32 otherwise healthy subjects, who experienced 67 well-documented episodes of SCLS. The condition affected more frequently girls (21, 66%) than boys, presented throughout childhood, and was preceded by a mostly viral illness in 75% of cases. The presence of a monoclonal gammopathy (MGUS) was never reported. Uncompensated circulatory shock, muscle compartment syndrome, acute kidney injury, pulmonary edema, and either pleural or pericardial effusion were, in decreasing order of frequency, the most common complications. Four patients died. In sum, SCLS develops not only in adulthood but also in childhood, but of potential significance is that in this age group the condition is not linked to an MGUS, and thus it could be that it does not play a pivotal pathogenic role.

06/27/2018
Clinical Presentation, Management, and Prognostic Factors of SCLS

A total of 133 case reports (161 patients) and 5 case series (102 patients) of idiopathic SCLS were included in a survey of articles published through end-2016. The findings include that patients had hypotension (81.4%), edema (64.6%), and previous flu-like illness (34.2%). They were often misdiagnosed as having hypovolemic shock, septic shock, polycythemia vera, or angioedema. Thirty-seven patients died (23%) mainly because of complications from SCLS (78.4%). There were significant differences in the survival rates between patients who were treated with prophylactic b2 agonists, methylxanthines, and intravenous immunoglobulins and those who were not. The estimated 1-, 5-, and 10-year survival rate of patients treated with intravenous immunoglobulins was 100%, 94%, and 94%, respectively. The results of this review suggest that prophylactic use of intravenous immunoglobulins is the most effective treatment in reducing the mortality rate of SCLS patients.

10/22/2017
The Clinical Picture of Severe SCLS Episodes Requiring ICU Admission

The Clinical Picture of Severe SCLS Episodes Requiring ICU Admission

Abstract: SCLS is a very rare cause of recurrent hypovolemic shock. Few data are available on its clinical manifestations, laboratory findings, and outcomes of those patients requiring ICU admission.  This study was undertaken to describe the clinical pictures and ICU management of severe SCLS episodes.  This multicenter retrospective analysis concerned patients entered in the European Clarkson's disease (EurêClark) Registry and admitted to ICUs between May 1992 and February 2016.  Fifty-nine attacks occurring in 37 patients (male-to-female sex ratio, 1.05; mean ± SD age, 51 ± 11.4 yr) were included.  Among 34 patients (91.9%) with monoclonal immunoglobulin G gammopathy, 20 (58.8%) had kappa light chains.  ICU-admission hemoglobin and proteinemia were respectively median (interquartile range) 20.2 g/dL (17.9-22 g/dL) and 50 g/L (36.5-58.5 g/L).  IVIG was infused during 15 episodes (25.4%).  A compartment syndrome developed during 12 episodes (20.3%).  Eleven (18.6%) in-ICU deaths occurred. Bivariable analyses (the 37 patients' last episodes) retained Sequential Organ-Failure Assessment score greater than 10 (odds ratio, 12.9 [95% CI, 1.2-140]; p = 0.04) and cumulated fluid-therapy volume greater than 10.7 L (odds ratio, 16.8 [1.6-180]; p = 0.02) as independent predictors of hospital mortality.  In conclusion, high-volume fluid therapy was independently associated with poorer outcomes.  IVIG use was not associated with improved survival; hence, its use in an ICU setting should be considered prudently and needs further evaluation in future studies.

07/05/2017
Intravenous Immunoglobulins Improve Survival in Monoclonal Gammopathy-Associated SCLS

Intravenous Immunoglobulins Improve Survival in Monoclonal Gammopathy-Associated SCLS

Abstract: We conducted a cohort analysis of all patients included in the European Clarkson disease registry between January 1997 and March 2016. From diagnosis to last follow-up, studied outcomes (e.g., the frequency and severity of attacks, death, and evolution toward multiple myeloma) and the type of preventive treatments administered were monitored every 6 months. Sixty-nine patients (M/F sex ratio 1:1; mean ± SD age at disease onset 52 ± 12 years) were included in the study. All patients had monoclonal gammopathy of immunoglobulin G type, with kappa light chains in 47 (68%).Twenty-four patients (35%) died after 3.3 (0.9-8) years. Fifty-seven (86%) patients received at least one preventive treatment, including intravenous immunoglobulins (IVIg) n = 48 (73.8%), theophylline n = 22 (33.8%), terbutaline n = 22 (33.8%), and thalidomide n = 5 (7.7%). In the 65 patients with follow-up, 5- and 10-year survival rates were 78% (n = 35) and 69% (n = 17), respectively. Preventive treatment with IVIg and terbutaline were the only factors significantly associated with survival in multivariate analysis. Neither the use of thalidomide nor theophylline was associated with improved survival. Five- and 10-year survival rates in patients treated with IVIg were 91% and 77%, respectively, compared to 47% and 37% in patients not treated with IVIg. Patients treated with IVIg were more likely to be free of recurrence, severe recurrence, and alive at the end of follow-up. Furthermore, all but one patient who did not experience a severe relapse were treated with IVIg. Since preventive treatment with IVIg was the strongest factor associated with survival, the use of IVIg is suggested as the first line in prevention therapy.

07/05/2017
Capillary leak syndrome: etiologies, pathophysiology, and management

Capillary leak syndrome: etiologies, pathophysiology, and management

Abstract: In various human diseases, an increase in capillary permeability to proteins leads to the loss of protein-rich fluid from the intravascular to the interstitial space. Although sepsis is the disease most commonly associated with this phenomenon, many other diseases can lead to a “sepsis-like” syndrome with manifestations of  diffuse pitting edema, exudative serous cavity effusions, noncardiogenic pulmonary edema, hypotension, and, in some cases, hypovolemic shock with multiple-organ failure. The term capillary leak syndrome has been used to describe this constellation of disease manifestations associated with an increased capillary permeability to proteins. Diseases other than sepsis that can result in capillary leak syndrome include the idiopathic systemic capillary leak syndrome or Clarkson’s disease, engraftment syndrome, differentiation syndrome, the ovarian  hyperstimulation syndrome, hemophagocytic lymphohistiocytosis, viral hemorrhagic fevers, autoimmune diseases, snakebite envenomation, and ricin poisoning. Drugs including some interleukins, some monoclonal antibodies, and gemcitabine can also cause capillary leak syndrome. Acute kidney injury is commonly seen in all of these diseases. In addition to hypotension, cytokines are likely to be important in the pathophysiology of acute kidney injury in capillary leak syndrome. Fluid management is a critical part of the treatment of capillary leak syndrome;  hypovolemia and hypotension can cause organ injury, whereas capillary leakage of administered fluid can worsen organ edema leading to progressive organ injury. The purpose of this article is to discuss the diseases other than sepsis that produce capillary leak and review their collective pathophysiology and treatment.

03/24/2017
Idiopathic systemic capillary leak syndrome (Clarkson disease)

Idiopathic systemic capillary leak syndrome (Clarkson disease)

Abstract: The enigmatic systemic capillary leak syndrome (SCLS) named for Dr Clarkson is characterized by transient and severe but reversible hemoconcentration and hypoalbuminemia caused by leakage of fluids and macromolecules into tissues. Although less than 500 cases of SCLS have been reported in the literature since 1960, the condition is probably underdiagnosed because of a lack of awareness and a high mortality without treatment. Treatment of acute SCLS remains primarily supportive. Prophylaxis with IVIG appears promising, but this therapy is nonspecific and expensive. Mechanistic understanding of SCLS is in its infancy. As a result, clinicians today cannot predict when or how badly SCLS will flare; targeted therapies do not yet exist, and prolonged remission or cure remains elusive. Our working hypothesis invokes exaggerated microvascular endothelial responses to surges of otherwise routinely encountered inflammatory mediators. This emerging disease model lends itself to innovative patient-centered translational research in the ways highlighted above. It is our hope that detailed and personalized investigation of intraendothelial responses among individual patients with SCLS might illuminate novel genetic and molecular control mechanisms. In turn, such advances could deliver the diagnostic, prognostic, and therapeutic tools sorely needed to combat this devastating disease.

03/23/2017
Sharing the Pain [of living with SCLS]

Sharing the Pain [of living with SCLS]

This article from The Washington Post newspaper tells the story of how this SCLS virtual community was created, the story of its founder and, more generally, of this fantastic RareShare site.

 

03/23/2017
The Mayo Clinic Experience with SCLS

Idiopathic Systemic Capillary Leak Syndrome (Clarkson's Disease): The Mayo Clinic Experience

Abstract: Of the 34 patients whose records were reviewed, 25 fulfilled all diagnostic criteria for SCLS. The median age at diagnosis of SCLS was 44 years. Median follow-up of surviving patients was 4.9 years, and median time to diagnosis from symptom onset was 1.1 years (interquartile range, 0.5-4.1 years). Flulike illness or myalgia was reported by 14 patients (56%) at onset of an acute attack of SCLS, and rhabdomyolysis developed in 9 patients (36%). Patients with a greater decrease in albumin level had a higher likelihood of developing rhabdomyolysis (P=.03). Monoclonal gammopathy, predominantly of the IgG-kappa type, was found in 19 patients (76%). The progression rate to multiple myeloma was 0.7% per person-year of follow-up. The overall response rate to the different therapies was 76%, and 24% of patients sustained durable (>2 years) complete remission. The estimated 5-year overall survival rate was 76% (95% confidence interval, 59%-97%). In conclusion, SCLS, a rare disease that occurs in those of middle age, is usually diagnosed after a considerable delay from onset of symptoms. The degree of albumin decrement during an attack correlates with development of rhabdomyolysis. A reduction in the frequency and/or the severity of attacks was seen in nearly three-fourths of patients who were offered empiric therapies. The rate of progression to multiple myeloma appears to be comparable to that of monoclonal gammopathy of undetermined significance.

03/23/2017
Genome-Wide SNP Analysis of SCLS

Genome-Wide SNP Analysis of SCLS.

Abstract: Polymorphisms in genes whose functional annotations suggest involvement in cell junctions and signaling, cell adhesion, and cytoskeletal organization, correlate with our previous mechanistic studies of SCLS sera. Such annotations provide a framework for future allelic discrimination strategies to validate top-ranked SNPs discovered here, as well as novel SNPs unique to the SCLS cohort detected by exome capture sequencing. Although the findings must be corroborated in a larger cohort, they provide a springboard for discovery of underlying pathophysiological mechanisms, biomarkers, and avenues for therapy.

03/23/2017
IVIG in SCLS: A Case Report and Review of Literature

IVIG in SCLS: Report and Review of Literature.

Abstract: In recent years, IVIG has become a common first-line prophylactic therapy in most patients with benefits at the dose of 2 gr/kg once a month. Here the authors report the case of a 49-year-old male patient in Italy -- he is a member of this community -- with SCLS treated successfully with a lower dose of IVIG (1 gr/kg monthly) in the maintenance phase. He presented no acute episodes in a follow-up period of 28 months. The authors describe prophylactic treatments for SCLS in the literature and compare their patient to another 18 who received IVIG in follow-up.

03/23/2017
Mechanistic Classification of SCLS

Mechanistic Classification of SCLS.

Abstract: The authors analyzed circulating mediators of vascular permeability and proinflammatory cytokines in acute episodic sera from 14 patients with SCLS, and sera from 37 healthy control subjects. They monitored barrier function of human microvascular endothelial cells (HMVEC) after treatment with SCLS sera using transendothelial electrical resistance assays. Consistent with their previous study, the permeability factor vascular endothelial growth factor (VEGF) was increased in sera from acutely ill subjects with SCLS. An analysis of samples from one SCLS patient who has not responded to any preventive therapies (and who is a member of this Community), suggests that SCLS may have clinically varying forms, and that within the group of patients with SCLS, different cytokines may mediate the capillary leak. Therefore, quantitative molecular and humanized cell-based assays for humoral mediators of permeability should improve diagnostic specificity for SCLS and enable clinicians to screen for effective therapies.

03/23/2017
High-Dose IVIG Therapy for SCLS

High-Dose IVIG Therapy for SCLS.

Abstract: We evaluated IVIG prophylactic therapy in a cohort of 29 patients with Systemic Capillary Leak Syndrome in a longitudinal follow up study. All patients received treatments at the discretion of their primary providers and retrospectively via questionnaire recorded symptoms beginning with their first documented episode of the SCLS until May 31, 2014. Twenty-two out of 29 patients responded to the questionnaire, and 18 out of the 22 respondents received monthly prophylaxis with IVIG during the study period for a median interval of 32 months. The median annual attack frequency was 2.6/patient prior to IVIG therapy and 0/patient following initiation of IVIG prophylaxis (P = 0.001). 15 out of 18 subjects with a history of one or more acute SCLS episodes experienced no further symptoms while on IVIG therapy. In conclusion, IVIG prophylaxis is associated with a dramatic reduction in the occurrence of SCLS attacks in most patients, with minimal side effects.

03/23/2017
SCLS in Children

Idiopathic Systemic Capillary Leak Syndrome in Children

Abstract: Adult subjects with systemic capillary leak syndrome (SCLS) present with acute and recurrent episodes of vascular leak manifesting as severe hypotension, hypoalbuminemia, hemoconcentration, and generalized edema. We studied clinical disease characteristics, serum cytokine profiles, and treatment modalities in a cohort of children with documented SCLS. Six children with SCLS were recruited from the United States, Australia, Canada, and Italy. Serum cytokines from SCLS subjects and a group of 10 healthy children were analyzed. Children with SCLS (aged 5-11 years old) presented with at least 1 acute, severe episode of hypotension, hypoalbuminemia, and hemoconcentration in the absence of underlying causes for these abnormalities. In contrast to what is observed in adult SCLS, identifiable infectious triggers precipitated most episodes in these children, and none of them had a monoclonal gammopathy. We found elevated levels of chemokine (C-C motif) ligand 2 (CCL2), interleukin-8, and tumor necrosis factor α in baseline SCLS sera compared with the control group. All patients are alive and well on prophylactic therapy, with 4 patients receiving intravenous or subcutaneous immunoglobulins at regular intervals. The clinical manifestations of pediatric and adult SCLS are similar, with the notable exceptions of frequent association with infections and the lack of monoclonal gammopathy. Prophylactic medication, including high dose immunoglobulins or theophylline plus verapamil, appears to be safe and efficacious therapy for SCLS in children.

03/23/2017
Systemic capillary leak syndrome: recognition prevents morbidity and mortality

Systemic capillary leak syndrome: recognition prevents morbidity and mortality.

Abstract: The authors report on a case of SCLS in Australia involving a 61-year-old male who was properly diagnosed after his third episode, to increase awareness of the condition and to highlight the benefits of prophylactic intravenous immunoglobulin (IVIG) in this condition. The diagnosis was made by exclusion and clinically by a classic triad of hypotension, hypoalbuminaemia and haemoconcentration. There have been recent advances in understanding the pathophysiological basis for SCLS and in effective prophylaxis, and the authors and patient benefitted from said advances.

03/23/2017
Laboratory Evidence of SCLS and of the Effectiveness of IVIG

Vascular Endothelial Hyperpermeability Induces The Clinical Symptoms of Clarkson Disease (The Systemic Capillary Leak Syndrome)

Abstract: The authors report clinical and molecular findings on 23 subjects, the largest SCLS case series to date. Application of episodic SCLS sera, but neither the purified immunoglobulin fraction nor sera obtained from subjects during remission, to human microvascular endothelial cells caused vascular endothelial cadherin (VE-cadherin) internalization, disruption of inter-endothelial junctions, actin stress fiber formation, and increased permeability in complementary functional assays without inducing endothelial apoptosis. Intravenous immunoglobulin (IVIG), one promising therapy for SCLS, mitigated the permeability effects of episodic sera directly. Consistent with the presence of endogenous, non-immunoglobulin, circulating permeability factor(s) constrained to SCLS episodes, we found that two such proteins, vascular endothelial growth factor (VEGF) and angiopoietin 2 (Ang2), were elevated in episodic SCLS sera but not in remission sera. Antibody-based inhibition of Ang2 counteracted permeability induced by episodic SCLS sera. Comparable experiments with anti-VEGF antibody (bevacizumab) yielded less interpretable results, likely due to endothelial toxicity of VEGF withdrawal. Our results support a model of SCLS pathogenesis in which non-immunoglobulin humoral factors such as VEGF and Ang2 contribute to transient endothelial contraction, suggesting a molecular mechanism for this highly lethal disorder.

03/23/2017
Successful Treatment of SCLS with IVIG

Successful Treatment of Systemic Capillary Leak Syndrome with Intravenous Immunoglobulins.

Abstract: The authors report on a 48-year-old woman in Spain who had her 1st episode of SCLS in 1997 and was initially put on a regimen of terbutaline and aminophylline, but went on to endure 20 additional episodes in the subsequent 3 years. She was then treated with melphalan-prednisone for a year and the frequency and intensity of her episodes diminished and even disappeared. In 2005, however, the episodes returned and in 2008 she was finally put on a regimen of IVIG (2 g/kg) every 6 weeks. She has had no more episodes since then.

03/23/2017
Comment on SCLS

Comment on The Systemic Capillary Leak Syndrome.

Abstract: The authors report on 2 additional patients from the United States with SCLS in whom prophylaxis with terbutaline and theophylline failed, but who had no further episodes after the initiation of IVIG therapy. There are additional published reports of successful prophylaxis with IVIG cited, and the authors are also aware of yet another case. Given the present state of knowledge and despite the high cost, the authors strongly believe that IVIG is the optimal prophylaxis and should be the initial choice to prevent attacks in patients with SCLS.

03/23/2017
IVIG: A Promising Approach to SCLS

High-dose intravenous immunoglobulins: A promising therapeutic approach for idiopathic systemic capillary leak syndrome.

Abstract: The article reports the case of a 40-year-old woman with chronic SCLS treated in Berne, Switzerland, with high-dose intravenous immunoglobulins (IVIG) after a prophylactic therapy with theophylline and terbutaline (T&T) was poorly tolerated and failed to decrease the frequency and severity of the attacks. During the 5 years she was on T&T the patient suffered from about 20 similar episodes of mild to moderate shock, often requiring hospital re-admission and supportive therapy. So far, 10 months of prophylactic therapy with IVIG (2gr/kg/month) have resulted in an impressive reduction of intensity and frequency of attacks, confirming the finding of other case studies.

03/23/2017
Lessons from 28 European Patients with SCLS

The Systemic Capillary Leak Syndrome: A Case Series of 28 Patients From a European Registry.

Abstract: The article describes the clinical characteristics, laboratory findings, treatments, and outcomes of patients with SCLS who were not previously reported in the literature. These European patients with SCLS were treated and monitored from the start of 1997 until end-July 2010. Survival rates were 89% at 1 year and 73% at 5 years; instances of death were directly related to SCLS attacks in 6 cases (75% of total). Treatments of various kinds increased the chances of survival: Five years after diagnosis, survival rates were 85% in 23 patients who had received a treatment and just 20% in 5 patients who had not. The authors provide additional evidence that a prophylactic treatment with IVIG tends to reduce the frequency and severity of attacks, and may improve the survival of patients with SCLS.

03/23/2017
Mayo Clinic write-up on SCLS

The Mayo Clinic's summary of the diagnosis and treatment of SCLS.

During an episode of systemic capillary leak syndrome, fluids are administered intravenously to maintain the patient's blood pressure and to prevent damage to vital organs such as the kidneys, heart and brain. The amount of fluid must be carefully controlled. An attempt to normalize blood pressure through aggressive fluid administration can cause destructive swelling of the body's extremities and overload the kidneys and lungs when the body needs to eliminate the excess fluids after the episode passes.

Glucocorticoids (steroids) are often injected during an acute capillary leak syndrome attack to reduce or stop the capillary leak. This is sometimes successful. Fluid pressure in muscles may be monitored. Emergency surgery may be needed to relieve pressure and minimize damage to muscles and nerves in the arms and legs.

Once the capillary walls stop leaking and fluids start to be reabsorbed, patients are usually given diuretics to speed up elimination of the fluids before they accumulate in the lungs and other vital organs, which can be a fatal complication.

Patients who avoid organ and limb damage in a capillary leak syndrome episode tend to recover their health after several days, once the capillary walls return to normal and the accumulated fluid is expelled from the body through urination.

Although no cure has been found for systemic capillary leak syndrome, the frequency and/or severity of episodes is often reduced by having patients take certain asthma medications: theophylline and terbutaline. Patients also may benefit from intravenous treatment with immunoglobulin or by taking thalidomide.

Patients may also be prescribed corticosteroid pills such as prednisone to be taken at the first sign of symptoms of another capillary leak.

03/23/2017
IVIG as Treatment for SCLS

Immunoglobulins for Treatment of Systemic Capillary Leak Syndrome

Abstract: A 43-year-old white woman in France diagnosed with SCLS was put on the recommended combination of Theophylline plus Terbutaline, but she nevertheless had 10 episodes of severe capillary leak during 2001-mid-2007, necessitating intensive care unit admission for her last 3 episodes. She was then put on IVIG administered every 6 weeks, and this yielded a dramatic improvement such that she has had no more episodes and has returned to her normal lifestyle.

03/23/2017
IVIG as Treatment for SCLS

High-Dose Intravenous Immunoglobulins Dramatically Reverse Systemic Capillary Leak Syndrome.

Abstract: The objective of this study was to report the dramatic improvement of patients with systemic capillary leak syndrome obtained with high-dose intravenous immunoglobulins. Systemic capillary leak syndrome is a rare and life-threatening disorder characterized by hypotension that can lead to shock, weight gain, hypoalbuminemia, and elevated hematocrit secondary to unexplained episodic capillary fluid extravasation into the interstitial space. Because its cause is unknown, systemic capillary leak syndrome treatment has remained largely supportive. Intravenous immunoglobulins administration to a patient with refractory systemic capillary leak syndrome yielded dramatic improvement. The patient is still alive 11 yrs after systemic capillary leak syndrome diagnosis and receives intravenous immunoglobulins monthly. Later, based on that result, intravenous immunoglobulins were successfully given to two other patients during the acute phase of systemic capillary leak syndrome. Both are still alive 8 and 1.5 yrs after receiving intravenous immunoglobulins at the onset of each flare. In conclusion, intravenous immunoglobulins were effective against systemic capillary leak syndrome symptoms in three patients, but their exact mechanism remains unknown. Their immunomodulatory effect merits further investigation.

03/23/2017
The Systemic Capillary Leak Syndrome

Narrative review: the systemic capillary leak syndrome

Abstract: The systemic capillary leak syndrome (SCLS) is a rare disease of reversible plasma extravasation and vascular collapse accompanied by hemoconcentration and hypoalbuminemia. Its cause is unknown, although it is believed to be a manifestation of transient endothelial dysfunction due to endothelial contraction, apoptosis, injury, or a combination of these. Fewer than 150 cases of SCLS have been reported, but the condition is probably underrecognized because of its nonspecific symptoms and signs and high mortality rate. Patients experience shock and massive edema, often after a nonspecific prodrome of weakness, fatigue, and myalgias, and are at risk for ischemia-induced organ failure, rhabdomyolysis and muscle compartment syndromes, and venous thromboembolism. Shock and edema reverse almost as quickly as they begin, at which time patients are at risk for death from flash pulmonary edema during rapid fluid remobilization. Diagnosis is made clinically and by exclusion of other diseases that cause similar symptoms and signs, most notably sepsis, anaphylaxis, and angioedema. Acute episodes are treated with vasopressor therapy and judicious fluid replacement, possibly with colloid solutions for their osmotic effects, to prevent the sequelae of underperfusion. Prognosis is uncertain, but patients who survive an initial severe SCLS episode are estimated to have a 10-year survival rate greater than 70%. Much remains to be learned about SCLS, and clinicians should consider the diagnosis in patients with unexplained edema, increased hematocrit, and hypotension.

03/23/2017

Clinical Trials


Cords registry

CoRDS, or the Coordination of Rare Diseases at Sanford, is based at Sanford Research in Sioux Falls, South Dakota. It provides researchers with a centralized, international patient registry for all rare diseases. This program allows patients and researchers to connect as easily as possible to help advance treatments and cures for rare diseases. The CoRDS team works with patient advocacy groups, individuals and researchers to help in the advancement of research in over 7,000 rare diseases. The registry is free for patients to enroll and researchers to access.

Enrolling is easy.

  1. Complete the screening form.
  2. Review the informed consent.
  3. Answer the permission and data sharing questions.

After these steps, the enrollment process is complete. All other questions are voluntary. However, these questions are important to patients and their families to create awareness as well as to researchers to study rare diseases. This is why we ask our participants to update their information annually or anytime changes to their information occur.

Researchers can contact CoRDS to determine if the registry contains participants with the rare disease they are researching. If the researcher determines there is a sufficient number of participants or data on the rare disease of interest within the registry, the researcher can apply for access. Upon approval from the CoRDS Scientific Advisory Board, CoRDS staff will reach out to participants on behalf of the researcher. It is then up to the participant to determine if they would like to join the study.

Visit sanfordresearch.org/CoRDS to enroll.

Community Leaders

aporzeca

I had my first episode of what turned out to be SCLS in November 2005, and was very lucky to have survived it (though with permanent disabilities in arms and legs, and thus in hands and feet) and to have been diagnosed correctly within days.

I went on to have 2 other life- and limb-threatening episodes in April 2007 and March 2009, requiring 2+ weeks of Intensive Care hospitalization to keep my organs alive and emergency fasciotomies to preserve the muscles and nerves I still have in my extremities.

I also had 7 episodes of lesser severity (Dec. 2007, June 2008, June 2009, July 2009, September 2009, and two in November 2009), because I realized I was having them early on, which allowed me to get a massive dose of steroids (Prednisone pills and/or injections of Solu-Medrol and Albumin) that effectively stopped the capillary leak phase of SCLS.

Given the increased frequency of my episodes of SCLS, despite having taken the recommended doses of the traditional medications (e.g., Theophylline, Terbutaline and Singulair), I was given my first infusion of IVIG in November 2009 and have had monthly infusions since then with no adverse side effects whatsoever. So far, so very good: I have had no more episodes of SCLS.

While I was among the first SCLS patients in the United States to benefit from an IVIG therapy, most other patients who had previously been getting this medication in Europe, and virtually all patients around the world who have since received IVIG, have stopped having episodes of SCLS.

Our stories are now told in a number of case studies published in various medical journals, and there is also a scientific article showing the efficacy of IVIG in countering SCLS in laboratory conditions based on our blood samples before and after receiving IVIG, as well as several articles with the results of surveys of SCLS patients who have been on IVIG.  The evidence that IVIG is the best and almost always successful therapy for the prevention of episodes of SCLS is now overwhelming.

My address is aporzeca@american.edu

 

Expert Questions

Ask a question

Gwendolyn20 Message
4 Jan 2017, 08:33 PM

My friend was diagnosed with SCLS about 2 years ago and has been on IVIG for almost the 2 years after his first episode. He now decided to stop the IVIG infusions, though he's very well aware of the risk that comes should he get a second episode. I'm just wondering if there's anything I could do to help him in this transition as I don't know what his reaction might be. Or if there should be any red flags I should look for in case he gets an episode, or any signs that he could be getting one, or should get back on the IVIG.

Answer

Until the specific cause(s) of SCLS can be identified, and a more targeted therapy can be developed, the experts at the National Institutes of Health recommend that confirmed SCLS patients should receive monthly IVIG infusions indefinitely.

If I were you, I would encourage your friend and his main physician to reach out and consult with Dr. Kirk Druey at NIH, especially if this was not done previously. (His coordinates appear towards the bottom of the tab "Disorder Details.") I would want to make sure that (1) my friend's diagnosis of SCLS was made correctly -- mistakes are common -- and (2) that an informed dialogue between knowledgeable physicians and my friend had taken place.

The upside of your friend stopping his therapy is that if by chance (a) he was indeed a confirmed case of SCLS and (b) he has no more episodes despite being off his medication, that would certainly provide worthwhile information to the rest of us who endure these expensive and intrusive treatments indefinitely.

The downside of your friend stopping his therapy is that he could have a life- or limb-threatening episode. The episodes are characterized by 3 clinical features measurable in a hospital's Emergency Room setting: hypotension (unusually low blood pressure), hemoconcentration (too many red blood cells per unit of plasma), and hypoalbuminemia (low albumin levels in the blood). (See more under "Disorder Details".)

And if he were to have an episode, tell him to demand a crash infusion of IVIG upon confirmation of the 3 clinical symptoms. (And it would help a great deal if he were to carry with him a letter from his physician stating that he is to be given IVIG if he should be having a confirmed episode.)

While there is limited experience with SCLS patients surviving an episode thanks to getting a last-minute infusion of IVIG -- and I have personally watched two SCLS patients die in the hospital despite getting their first taste of IVIG during their episodes -- at least nobody could blame themselves for not trying, in a life-or-death emergency, what seems to work best when received on a regular, monthly basis.

Rubeanie Message
29 Dec 2016, 04:15 AM

I am not sure if I am a rare breed or very fortunate (so far). In February of this year 2016), I had a "rash" from head to toe. I was misdiagnosed, but then in April I had what my doctors believe was a full-blown episode of SCLS. I have had several small ones since then. I was put on montelukast (Singulair) and have not had an episode since. My question is: will the montelukast always work, or will the SCLS flare up again?

Answer

If you really have SCLS, then you are both a rare breed -- because SCLS is a one-in-a-million, exceedingly rare disease -- and very fortunate so far -- because there is zero evidence that montelukast (Singulair) prevents episodes of SCLS.

Before the good news about IVIG for SCLS became widely known (namely, before 2008), I used to take theophylline, terbutaline and montelukast to prevent further episodes -- and yet I went on to have them again and again until I received my first dose of IVIG in late 2009. If I had not, I would probably have died in 2010.

Therefore, my advice to you is as follows. First, you must have your diagnosed confirmed, and the best way to go about doing that is to have your treating physician send in ASAP a copy of your medical records to Dr. Kirk Druey at NIH (see contact information at the bottom of the tab "Disorder Details") requesting an expert evaluation. If Dr. Druey suspects that the diagnosis may be correct, he will probably invite you to fly in to NIH (located in Bethesda, MD, in the outskirts of Washington, DC) for a full, in-person assessment.

And second, if and when your diagnosis of SCLS is confirmed, then Dr. Druey will work with your physician on a treatment plan which may well include an IVIG-based therapy.

Please do not delay: if you really have SCLS, then it's only a question of when, not if, you will experience your next episode -- and it could be fatal.

cpollet Message
20 Nov 2016, 10:27 PM

I'm a young Italian doctor that is following for about 6 months a male patient, 57 years old, for a suspected diagnosis of SCLS. His history began in 2014...

...

I'd like to know if, in your experience, I could improve his clinical situation by the addition of other drugs (Immunoglobiln iv? Terbutaline?) and if so in what dosage. My experience in SLCS doesn't exist and all that I know results from reading some literature. I ask you for help to improve my experience and my patient's health

Answer

Dear Dr. Pollet:

As you will understand, we are strongly discouraged from making diagnoses and recommending specific treatments on this website.

Therefore, I suggest that you request a consultation from any one of the leading authorities on SCLS identified towards the bottom of our page "Disorder Details": Dr. Kirk Druey at NIH; Dr. Mark Pecker at Weill Cornell/New York Hospital; and/or Dr. Zahir Amoura at the Hôpital de la Pitié-Salpêtrière in Paris.

Their emails are provided, so all you need to do is write to them giving them the details you sent to me plus whatever additional medical history you can deliver, and I am sure they will write back to you with their best advice on how to proceed.

LorraineKH Message
24 Jun 2016, 05:02 PM

A family member (nephew) was recently diagnosed with SCLS, while out of state. He seemingly received excellent care, and now I am trying to help with resource finding and financial assistance for what undoubtedly will be a very expensive trip to the hospital. I would like to be his ombudsman in the healthcare system he is in, do you have any idea how I might go about doing that? He is very intelligent, but I expect him to go through some periods of grieving and adjustment after his elation of finally coming home. Finally, are there any physicians in Colorado with experience treating SCLS? I have a bazillion questions, but will stop here for now! Thank you for being here!

Answer

Welcome to our Community! You will find here just about all the information you and your nephew need, so start by reading the main sections ("Disorder Details" and "Disorder Resources") and then going through the "Discussion Forum," picking among the topics that interest you most. You'll want to print out some of these sections and have your nephew take the printouts whenever he sees a doctor or finds himself in a hospital's ER

If your nephew was diagnosed correctly -- and especially if he wasn't -- the first thing he will need is a top-notch internist to serve as his "anchor physician." Forget about finding an expert on SCLS; you need to find a veteran, compassionate physician who will make the time to manage a rare-disease patient, is willing to read up on the condition, and is pro-active in consulting with the handful of physicians who really know about SCLS, as mentioned in the "Disorder Details" section.

My advice is to look for one who is affiliated with a medical school in Colorado (preferably, the Univ. of Colorado), and has the rank of Professor or at least Associate Professor, as long as they practice within, say, a couple of hours driving distance from where your nephew will live. Check out the list at http://www.ucdenver.edu/academics/colleges/medicalschool/departments/medicine/GIM/Faculty_Staff/Pages/Faculty-Roster.aspx

And please encourage your nephew to educate himself about his diagnosis and to join this Community. Many of our members, myself included, are alive and have a reasonably good quality of life thanks to what we learned here -- and only here. Besides, it's therapeutic to interact with others who provide information and moral support.

davec Message
21 Jan 2016, 07:38 PM

As I recover from my bouts with SCLS, I am curious if exercise in the gym, jogging or tennis is recommended? Second, how long after an episode should one wait before traveling internationally again: 6 months, a year?

Answer

As far as we know, physical exercise and international travel do not cause episodes of SCLS.

We have a few patients in this Community who were very active (e.g., biking or skying) for decades before they had their first episode of SCLS, and then we have a vast majority of patients who exercised moderately or little before they were hit. Likewise, we have a few patients who used to do a lot of domestic and/or international travel before their first episode, and a large proportion of patients who did not travel much.

Of course, we also have many patients who would like to engage in moderate or vigorous exercise and sports but cannot because of the damage they suffered in feet, legs, hands, arms or vital organs in the wake of their first episode of SCLS.

We also have patients who would like to travel abroad but are afraid to do so because they don't want to fall ill far away from home, family and their medical doctors.

In this regard, consider yourself very fortunate to be able to contemplate re-engaging in sports and in international travel.

The question you should ask yourself is: Why am I still having bouts of (presumed) SCLS? Being vulnerable to further episodes is the most risky thing you can do, because if you really suffer from SCLS, and you are not receiving a therapy that is effective in preventing the episodes, then you are vulnerable to having an episode that will leave you crippled or dead.

If you haven't done so already, I recommend that you have your physician send your medical history to Dr. Kirk Druey at NIH, see bottom of the "Disorder Details" section, so that he and his team may confirm your diagnosis and work with your physician to come up with an effective course of therapy for you.

janiegrrrlaz Message
9 Dec 2015, 07:04 PM

Are you aware of any treating physicians in the Phoenix (AZ) area? I was turned away by both the Mayo Clinic here and in Rochester, MN. I was told they do not "have any one qualified" to treat me. I am waiting to hear back from NIH also. Thank you!

Answer

I'm sorry that the Mayo Clinic seems to have dropped the ball in your case, but you really don't need them.

While I don't have the name of any physicians who have treated an SCLS patient in Arizona, I have two common-sense suggestions good for anyone in any place.

First, make absolutely sure that you have been diagnosed correctly by having your medical and hospital records sent by your main physician to Dr. Kirk Druey at NIH, requesting a consultation on your case. It sounds like you already initiated contact with him, so that is good. Having a correct diagnosis is crucial to everything else.

Second, if your current physician is not interested in your case, or seems overwhelmed by it, then find a new "anchor" doctor, preferably a seasoned internist on the faculty of a university hospital, to provide a fresh pair of eyes, accept a diagnosis of SCLS, discuss your case with Dr. Druey, coordinate your care, and decide on therapy options including IVIG.

It doesn't matter that he or she may not have even heard of SCLS before: by now there is plenty of useful literature, see the Disorder Resources section of this website.

In Phoenix, you are lucky to have the University of Arizona Medical College, so I would look there. Ask for an initial appointment with the Chair of Internal Medicine, Dr. David Wisinger, tel. 602-344-5027, davidwisinger@email.arizona.edu If he doesn't take you on himself, he will have recommendations for you.

mweston Message
25 Jun 2015, 03:13 AM

I am currently battling breast cancer, and my oncologist has recommended me for a clinical trial involving T cells. It involves taking my blood, removing the T cells, growing them and coating them with antibodies, and then infusing them back into my body so they may fight cancer. The purpose of contacting you is that one of the drugs to be given to me during this trial, Interleukein-2, supposedly can trigger the Capillary Leak Syndrome! Have you heard of this connection? Should I participate in this clinical trial?

Answer

I know nothing about this, and my suggestion is that you have your oncologist contact Dr. Kirk Druey at NIH to ask him what he knows and thinks about it. He knows more than anybody about SCLS and he has a lot of top-flight colleagues he can consult with. His contact information appears toward the bottom of the "Disorder Details" tab.

Tvaughn Message
24 Jun 2015, 12:20 AM

My daughter-in-law has recently been diagnosed with this disease. I want to find out as much as I can in order to understand what the disease does to her, and what I can do to help her. Are there any treatment options that we can use in or near Dallas, Texas?

Answer

Welcome to our Community, and the best thing you and her doctors can do is read the information appearing in the "Disorder Details" and "Disorder Resources" sections of this website -- because when it comes to exceedingly rare diseases like SCLS, the lack of accurate and timely information can be disastrous for the patient and her caregivers.

And of course there are great care and treatment options available in or near Dallas, TX. I suggest that she find herself a senior internal-medicine physician affiliated with a top hospital like the Baylor Univ. Medical Center or the Methodist Dallas Medical Center.

Blinski Message
31 Mar 2015, 10:50 PM

I am a physician and am quite confident that my father, who has been hospitalized a number of times in the past 2 years, has SCLS. His symptom complex and lab results at times of attack, and difficult recoveries due to aggressive fluid resuscitation, are literally a textbook case. His current physicians are failing him miserably, so have you any suggestions of any others in the South Florida area that could help? Also, how do you find a physician that is willing and able to initiate IVIG infusions?

Answer

So sorry to hear about your father! It is bad enough to be sick, but it is worse still to be sick and without an appropriate diagnosis -- never mind a suitable therapy.

While I don't have the name of any SCLS expert in South Florida, I have two suggestions good for any place. First, get hold of your father's medical and hospital records and send them to Dr. Kirk Druey at NIH requesting a consultation on his case.

Second, find a new "anchor" physician for your father, preferably a seasoned internist on the faculty of a university hospital, to provide a fresh pair of eyes, consider a possible diagnosis of SCLS, discuss his case with Dr. Druey, coordinate his care, and decide on therapy options including IVIG. It doesn't matter that he or she may not have even heard of SCLS before: by now there is plenty of useful literature, see the Disorder Resources section of this website.

While immunologists are obviously very familiar with IVIG therapies, and one of them could be enlisted to support the initiation of a course of therapy for your father, the clinical judgment and follow-up of an internist will be very important. Involving a hematologist has sometimes helped, but most of them have a narrow interest in oncological cases, so they are often not interested or helpful.

kgoldade Message
29 Mar 2015, 11:15 PM

My 2-and-a-1/2 years' old grandson has SCLS. Do you know if IVIG therapy has worked in someone so young?

Answer

IVIG therapy for children diagnosed with SCLS is a relatively new thing, but as is the case with adults, it is looking very promising. And yes, in a recently published survey of pediatric cases of SCLS, titled "Idiopathic Systemic Capillary Leak Syndrome in Children," which you can see listed at the bottom of the Disorder Resources section of this Community's website, there is discussion of a child (identified as P2) who is 5 years old now and has been on IVIG -- and episode-free -- since she was 33 months old. I suggest that you let your grandson's doctors know about it, and they can then contact the lead author, Dr. Kirk Druey at NIH, with any related questions they may have.

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Parent of a young man with ...
My boyfriend and I have a t...
I research symptoms that my...
44 y.o. single parent - de...
Just in the centre of the N...
My mother died in 1992 from...
<p>&nbsp;</p> <p>A first...
I am 53 living in Paris , F...
I am a retired high school ...
I am the mother of scls pat...
I am a christian mother of ...
Hi Everyone, <p>&nbsp;</p>A...
My mom suffers from SCLS an...
My friend has been diagnose...
Father of a patient.
My little brother (34 years...
..
Diagnosed at University Hos...
Sister -in- law of SCLS vic...
I am the proud mom of two b...
40 year old, mother of four...
I am a 40 yr old sahm to id...
Husband & advocate of Maril...
<p>50 Years old</p> <p>&...
My 4 year old nephew was re...
Bonjour, <p>&nbsp;</p>J'ai ...
*scls <p>&nbsp;</p>Have had...
My first episode was in 200...
My daughter Ela (3 this Nov...
I was told that I have chro...
One of my best friends is s...
In early July, 2010 (the ho...
My name is Amy and I have b...
*I was diagnosed on June 24...
I had my first acute attack...
I have been diagnosed since...
friend of someone who died ...
I am a family member of Mar...
I was diagnosed in 1998 wit...
i was diagnosed with scls i...
I am at retirement age and ...
My sister Shannon suffers f...
I am a 61 year old female. ...
Previously healthy individu...
wife has capillary leak syn...
Sept 4, 2010 - Persistant F...
I am a retired family physi...
I was diagnosed with SCLS i...
I am the husband of someone...
my 4 yr old son was dagnos...
Physician brother of a member
I'm 19 years old, living in...
As new member but with diag...
My first attack was 3/2000....
<p>I have been diagnosed wi...
Diagnosed by the Mayo Clini...
I have just been diagnosed ...
Wife of Mahaff
<p>I have SCLS and think I ...
I was diagnosed with System...
My cousin has been diagnose...
Atypical Systemic Capillary...
I am a 56 year old female w...
Surprise! I've got a rare ...
Searching for answers that ...
My daughter, Rebecca, was d...
High, <p>&nbsp;</p> <p>&nbs...
Dear sir <p>&nbsp;</p> I ...
My medical history briefly....
my extremely good friend wa...
seeking helping in treatmen...
<p><strong>My husband&#39;s...
I have suffered SCLS since ...
I am the mother of a 5 year...
Our son Connor (born 4/7/05...
I am an infusion nurse who ...
I'm Judy Davis' sister
My sister, Judy Davis, died...
Bonjour, <p>&nbsp;</p>Un ur...
My father has just passed a...
I am a gastroenterologist w...
My sister-in-law, Denise, h...
I've been diagnosed in 2006...
<p>first attack in 02/2009....
I am a 61 year old male liv...
I am the wife of a Systemic...
Parent to a daughter with S...
I am french, I understand e...
My name is Maria, I was ...
Update 2016: <p>&nbsp;</p> ...
I am a stay- at- home mom o...
[Updated on January 2013] <...
My daughter, age 41, has be...
I noticed swelling in my an...
family physician , patient ...
My first attact was in Oct ...
I was just diagnosed with s...
sono la moglie di mario gat...
I live in Christchurch, New...
Name: Walt Breidigan, Bethe...
Heading a research study on...
<p>I have been on IVIG ther...
Widow of NC SCLS patient
I have had SCLS since 1997,...
my brother at age 43 suffer...
White male diagnosed with C...
I´m from Guatemala. The MD...
My name is Claude Pfefferlé...
j'ai été diagnostiqué avec ...
I am from Canada, My friend...
Am an Indian national, want...
I AM AN INDIAN LIVING IN ...
Physician focused on disord...
First scls attack on valent...
<p>My husband&nbsp;Jeff was...
Friends, family and patient...
Mark is my name, I am the p...
I am 36 years old and was d...
I have had this syndrome si...
I am married to Richard and...
<p>I had my first episode o...
My name is David Isserman a...

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Celebrating our 10th Anniversary, Part 3

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Relationship between triggers and infusion IVIG.

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