Dear all,

Nice to meet you! My name is Marielle, I am 28 years old and currently doing a PhD on Snacking behaviour at a university in the Netherlands. 

I am new to the forum, but not to SCLS. I have been dealing with SCLS for almost 5 years now, and next to struggling with the devastating effects of SCLS, I have also struggled with many difficulties in hospitals (due to a lack of Health care workers' awareness/knowledge/empathy/willingness to broaden their knowlegdge). My previous specialist gave me homework to explore SCLS in literature, because of my academic position (So I can also contribute scientific literature to this forum!). He however turned sour when I wrote a proposal to advocate the initation of IVIG for my case. He simply did not believe in the efficacy of IVIG without the presence of M-protein, even when literature shows sufficiently strong contradictory evidence to his proposition. He did not want to cooperate in improving my situation. So, I had myself transferred to another hospital November last year, to a specialist who has a heart for his patients and treats people like ... well ... human beings.

However, because all my medical data is scattered over time/hospitals, and oftentimes missing pivotal biomarkers, I am still waiting for confirmation of the diagnosis SCLS. I need to adhere to a set of quite strict criteria (set up February this year) for my next attack so I can be clinically observed in the hopital. However, most attacks I experience are mild-ish.  I have had a few major attacks (mainly in the first few years) which almost knocked me off this earth, but most of the attacks now are mild and very frequently occurring (the time between attacks is a week or so when I am lucky). These mild attacks are bad enough to make you feel very sick, but not (yet) bad enough to be hospitalized... so I am a little in limbo, awaiting something bad to happen before I can hopefully be helped, but also progressively experiencing less quality of life.

Anyhow, over the years I have experienced quite some "complications". Many sudden severe infections (thrombophlebitis mostly) due to blood clots in leg, but recently also arm veins, constant sensible edema in the legs, microvascular angina, no heat tolerance and more. However, there are a few odd things I cannot really ask my doctors about (because they have no idea) and for which I have not really found a lot of evidence in literature yet. So I am wondering whether any of you have experienced the following:

- Leukopenia/neutropenia: my WBC/neutrophil levels are consistently low, even declining. Is this recognizable for any of you? 

- Recently, I have experienced neuropathy (constant pins and needles feeling, burning sensations) in my legs and arms. Does any of you have to deal with this too? 

And if you recognize these matters... do you also have some more (experiental) knowledge on possible underlying mechanisms in relation to SCLS?

Thank you for reading and maybe answering... Finding this forum is on one hand a true gift (so much recognition, sharing our stories, supporting each other) and I am very grateful for the existence and efforts you guys put in .... but I would have also wished for people not having to deal with SCLS... because it can truly be difficult ( and I think you can all relate unfortunately).

By the way, I have contracted Dr Druey and Dr Pineton de Chambrun for support in acquiring the right diagnosis. Dr Druey is retired now, but Dr Pineton de Chambrun stated his willingness to help... so amazing that these doctors are doing so! He will review my case. Have any of you also had experienced with these doctors in assisting you in your case? And if so, what did this assistance entail?

 

I am sorry for my many questions... so once again, thank you for your efforts in reading and maybe responding. Please let me know if I can assist in sharing literature or experiences of some sorts.

 

All the best!!

 

Regards,

 

Marielle

My WBC and Absolute Lymphocytes are consistently below range  

If neuropathy symptoms are present please rule out B12 deficiency which can cause wide ranging neurologic symptoms and is easy to remedy. If treated early enough one can reverse early symptoms of neuropathy and avoid more serious complications of B12 deficiency. I had 3 years of cascading multi-systemic symptoms before finally being diagnosed with B12 deficiency twenty years ago. 

My doctors tell me B12 deficiency is often seen in those with MGUS (I do have M protein) and of course MGUS almost always present in SCLS  It all seems to be related, they just don't know why.

 

Dear Cara Cozine,

 

Thank you very much for your reply!
Are you being treated for the SCLS? How do your doctors deal with your low WBC/Lymphocytes? Do you also experience this during attacks?

Thank you for the tip on B12 deficiency. I have had a deficiency 10 years ago (which they found due to spontaneous small bruises all over the body), long before the start of SCLS, and have ever since been treated with a weekly injection of B12. I am so sorry to hear you have also suffered for so long with B12 deficiency before they diagnosed you correctly.

Interesting correlation, the B12 and the MGUS... It would be nice if more research would be devoted to the possible underlying mechanism of this correlation... 

 

Anyhow, thank you for reaching out!

I was diagnosed with SCLS in Dec  2022 and have been treated with IVIG infusions monthly since Jan 2023. My first SCLS attack was in 2018. I had 4-5 attacks before one triggered by COVID landed me in the hospital for 8 days. That prompted me to go to Mayo Clinic MN where a hematologist diagnosed me nearly immediately.  I had a couple of attacks where blood work was on record and then the hospitalization was well recorded. Most of my leaks resulted in 7-10 lb weight gain ; 30+ pounds in hospital. 

There was only once my WBC was low enough to be concerned. It was retested in two days and had improved. These abnormals are now my new normal. My platelets run low between around 90-100, but not dangerous and normal for me.

They have a new Doctor at Mayo that deals with SCLS? Name please... I used to see doctor Gripp their. I haven't been back since in retired. I had a very good hematologist here but she has since moved onto another hospital. I have been in between doctors for quite some time now and I've been seeing a nurse practitioner. I feel my care has really gone downhill since then. I hope all works well for you.

for you.

Thank you,

Ritz

The doctor who diagnosed me at Mayo (Rochester) was Dr. Eli Muchtar (hematology). I can't say that he specializes in SCLS, but he is certainly knowledgeable about it. I went to Mayo for a rheumatology consult because my mystery illness was still quite a mystery. The rheumatologist ran many tests and came up empty handed but recommended a hematology consult because of my MGUS diagnosis. Dr. Muchtar reviewed my lab and hospitalization records from previous attacks, asked me to describe my symptoms, and within ten minutes diagnosed me with SCLS. He consulted with the team to confirm the diagnosis. He knows about it and how rare it. He was quite clear on the serious nature of it and he understands how elusive a diagnosis can be . He was as happy to make the diagnosis as I was to get one. They have diagnosed and treated others there.  Although I am stable and being managed by a local hematologist, I plan to continue with my annual follow ups with Dr Muchtar as a safeguard. It's reassuring to me that if I land in some hospital while traveling or start to have any other complications...he (along with a consult team) is just a phone call away. After my very first infusion, I developed symptoms of a leak. When I could not get through to my local doctor, I called his office. Within 30 minutes, I received a personal phone call from him. We discussed my symptoms and action plan. It remained just a minor leak that resolved on its own. He consulted with the team and they determined the infusion itself provoked the episode and recommended I split the dose over two consecutive days. He is a very nice caring man and as I said it is very reassuring to me to know top notch consultation is just a speedy phone call away. They also have a hematologist on call 24/7 should it fall outside regular hours. 

Thank you for the reference at Mayo, Cara!

I would also like to suggest Dr. Suzanne Hayman (also at Rochester).  She was very helpful in ruling out other possible causes, and very compassionate. She mentioned she had come across about 5-10 SCLS patients in the many years that she has been there.

I am my local doctor's first and only SCLS patient. He knew of capillary leak in other circumstances but did not know it was a chronic condition or syndrome. I was under care of the local hematology office for 3 years following my MGUS dx. During that time I had several attacks including my last which landed me in the hospital for 8 days. No diagnosis came and there was no appreciable concern. Of course, depending on when you seek medical attention, the abnormal labs may not be yet at critical levels.  And when they did reach critical stages and I was hospitalized it was all blamed on Covid which was only the trigger..although some doctors agreed something more was going on. They were just happy they managed me through it.

I'm so thankful I went to Mayo which happened easily because my daughter In law and her father both practice family medicine there and arranged everything for me. My local Dr signed what he needed to for the referral. 

I feel a diagnosis from Mayo Clinic will not be questioned in any setting from a new doctor's office to an ER room to insurance company approvals. I keep my diagnostic letter in close reach because it lays out the diagnostic justification beautifully. It helped that I kept dates and symptom notes of all episodes which allowed him to easily hone in on records of repeated attacks....along with the recent 8 day hospitalization. It was clear as could be to someone who knew what they were looking for. Classic presentation of an obscure rare disease.

Thank you so much for your replies and references! I truly appreciate it!

I have consulted Dr. Marc Pineton de Chambrun and he was so kind to review my case and he thinks there is some auto-immune related cause in my case, stating also "we are currently describing a other form of chronic capillary leak syndrome that resemble to the symptoms you are experiencing. It usually affect young women with autoimmune disease or at least some antinuclear antibodies. We frequently see facial edema, pleural and pericardial effusion". This is also interesting. I am now awaiting a transfer to a Dutch University Medical Center in Amsterdam so they can hopefully there look into my case and maybe search for possible auto-immune related mediators. It is truly relieving to know that there might be another option for consultation in the Mayo clinic... I truly appreciate you sharing your story and all information!

 

Now in the meantime, I have experienced two hrombotic events... first in the right upper arm and later in the right hand, in the basilic vein with severe infection of the arm. This has resulted in the disappearance of blood flow in the basilic vein. It was also noticed on the duplex ultrasounds that the cephalic vein had thickened vessel wall. Has anyone of you experienced thrombotic events? Or does someone recognize the thickened blood vessel walls?

I also recommend Suzanne Hayman (Hematologist Oncologist) at Mayo Clinic in Rochester, MN. 

Marielle

1. UMC Amsterdam lijkt me een goed alternatief om de mogelijkheid van SCLS te onderzoeken. Op dit forum zijn nog zeker 2 patienten aanwezig  wiens case daar in behandeling is. Kijk maar even rond bij de leden op dit Forum.

2. Marc Pineton de Chambrun van Salpêtrière Parijs heb ik nooit persoonlijk ontmoet maar hij heeft de artsen van het ziekenhuis van Brest (F, Bretagne) begeleid bij mijn opname. In Bretagne heb ik op vakantie in 2019 een zware bijna fatale aanval gehad met coma en fasciotomie aan onderbenen en onderarmen gehad. Salpêtrière Parijs is dan ook het Europese kenniscentrum voor SCLS. Zahir Amoura en Marc Pineton de Chambrun zijn de belangrijkste artsen op dat gebied.

Momenteel gaat het goed met mij, ik ontvang elke 3 weken 1g/kg IVIG en sinds 2019 aanval vrij. We blijven altijd erg attent bij het minste teken van ziekte. Enkele weken geleden heb ik voor eerst Covid gehad maar goed doorstaan zonder al te ziek te zijn maar ik heb wel onmiddellijk virusremmers voorgeschreven gekregen van mijn hematoloog. 

Hans

 

Beste Hans,

Bedankt voor het berichtje!

Via een andere hele vriendelijke en behulpzame patient op dit forum is inderdaad de ingang tot het AMC tot stand gekomen, waar ik erg dankbaar voor ben. Er is vanuit mijn hematoloog in het Rijnstate een brief aan de voorgestelde arts in het AMC gezonden. Ik ben nog in afwachting van reactie.

Wat heftig van de aanval in Bretagne... Gelukkig heeft u het overleefd! Fijn dat er begeleiding was van Marc Pineton de Chambrun. Ik ben ook dankbaar dat hij de moeite doet om met mijn casus en die van vele anderen mee te denken. 

Wat ontzettend fijn om te vernemen dat het nu goed met u gaat! Ik hoop van harte dat u aanvalvrij mag blijven! Ik kan me voorstellen dat het krijgen van Covid wel een spannende situatie was. Bij griep (vaccinatie) heb ik ook vrij heftige aanvallen beleefd. Welke virusremmers heeft u toen gekregen? Gelukkig heeft u Covid in die zin goed doorstaan!

Vriendelijke groetjes,

 

Marielle