Cookies help us deliver our services. By using our services, you agree to our use of cookies. Learn more

Sneddon's Syndrome

What is Sneddon's Syndrome?

Sneddon's Syndrome is a rare disorder of the arteries leading to purplish mottled skin (especially in the cold) and severe but transient neurological symptoms. It is generally understood to be a clotting disorder, leading to potential for TIA (small stroke) and stroke. See the expanded description for more information and please feel free to ask questions!

 

 

Anyone suffering from Sneddon's or what seems to be Sneddon's should take a look at the Foundation website at www.sneddonsyndrome.org. If you fill in our Contact Us page, we can help you find the doctors you need, get the tests you need, and the treatment you need. We'd like to help.

 

 

Diane O'Leary, Ph.D.

 

The Sneddon's Foundation

 

 

Synonyms

  • Ehrmann-Sneddon syndrome
  • Livedo racemose-cerebrovascular accident syndrome
  • Livedo reticularis-cerebrovascular accident syndrome

Sneddon's Syndrome is a rare disorder of the arteries leading to purplish mottled skin (especially in the cold) and severe but transient neurological symptoms. It is generally understood to be a clotting disorder, leading to potential for TIA (small stroke) and stroke. See the expanded description for more information and please feel free to ask questions!

 

 

Anyone suffering from Sneddon's or what seems to be Sneddon's should take a look at the Foundation website at www.sneddonsyndrome.org. If you fill in our Contact Us page, we can help you find the doctors you need, get the tests you need, and the treatment you need. We'd like to help.

 

 

Diane O'Leary, Ph.D.

 

The Sneddon's Foundation

 

Acknowledgement of Sneddon's Syndrome has not been added yet.

Sneddon syndrome primarily affects women in young adulthood. The average age of onset is 30 years old. Some have manifested at 20 years old and others at childhood. It occurs approximately 1 in 250,000 annually.

Name Abbreviation
Ehrmann-Sneddon syndrome SS
Livedo racemose-cerebrovascular accident syndrome SS
Livedo reticularis-cerebrovascular accident syndrome SS

Approximately half of affected individuals inherit Sneddon syndrome from their parents in an autosomal dominant pattern and approximately half of affected individuals develop Sneddon syndrome sporadically (without a known cause). Others can have Sneddon syndrome secondary to an autoimmune condition, such as, systemic lupus erythematosus, antiphospholipid syndrome, Behcet’s disease, thrombophilia, or mixed connective tissue disease. Sneddon syndrome can be defined as aPL-positive and aPL-negative; where aPL is antiphospholipid, depending if autoimmune disease is present or absence, respectively.

In familial affected individuals, genetic factors may play a role. However, the underlying genetic cause is not currently known. There have been two cases in which loss-of-function mutations in cat eye syndrome at chromosome 22q11.2 and gene CECRI have been reported.

Symptom manifestation is caused by a progressive disease of the small and/or medium arteries. This can lead to reduced blood flow, increased blood pressure, and clotting. Heart disease, valvular disease, and secondary high blood pressure can occur.

The disease may not manifest until it is triggered or activated by certain circumstances, such as a stroke or mini-stroke (transient ischemic attack), intracranial or intraventricular hemorrhage, or livedo racemose. Livedo racemose is a net-like, purple-blue discoloration of the skin. It primarily affects the extremities: the arms, hands, legs, feet, buttocks, and the trunk. It is extremely visible in the cold and can be exacerbated by cold or with pregnancy.

Other affected individuals may have signs of Raynaud syndrome, characterized by episodes lack of blood flow. It causes fingers and/or toes to become white then blue, followed by episodes of blood flow returning, making the area turn red and burn.

Neurological manifestations include strokes, transient ischemic attacks (TIAs), commonly known as mini-strokes, and cerebral infarcts, which is tissue death due to the lack of blood supply caused by a stroke/mini-stroke. Strokes/mini-strokes can cause weakness of only one side of the body, the loss of ability to understand or express speech, and visual defects or vision problems.

Additionally, in Sneddon syndrome, with or without cerebrovascular issues, there is a reduced flow of blood to the brain. This can cause intellectual disability, memory loss, personality changes, and/or other neurological symptoms. This cognitive decline leads to dementia and occurs frequently. Other common cognitive impairments observed are concentration, attention, and visual perception issues.

Rarely, neurological abnormalities and symptoms can occur, such as, spinal stroke, intracranial or subarachnoid hemorrhages (bleeding around or within the brain), seizures, chorea, and myelopathies. Other rare complications are ophthalmic issues and impaired kidney function.

Name Description
floaters in eye sight Daily presentation of floater/spots in vision, usually more prevelent during a neurological accident/TIA.

Sneddon syndrome is suspected based on clinical presentations. It is suspected when there are cases of unexplained stroke at a young age, cognitive impairment without a stroke, or livedo racemose is present.

A history of stroke or TIAs evaluation and a cerebral angiography is performed. Cerebral angiography is typically abnormal in most affected individuals.

A skin biopsy is performed to confirm the diagnosis of livedo racemose. The skin biopsy will reveal occlusion of the small arteries under the skin with lack of blood flow to those areas.

An MRI scan is performed to show different brain structure (white matter) changes, infarcts, microbleeds or bleeds, and atrophy (breakdown of tissue). In some affected individuals, there may be a narrowing of arteries and/or vessels in the brain.

Blood tests screen primarily for antiphospholipid antibodies. It is present in more than half of the affected individuals. It also screens for lupus, low white blood cell count, and blood clotting factors.

Other tests include a cardiovascular evaluation, ophthalmic test, and renal function.

There is not established treatment for Sneddon syndrome. Sometimes, long-term anticoagulation with warfarin is prescribed in patients with high INR to prevent cerebrovascular events and issues. High INR means that the blood is thicker, so the risk of clotting is higher. However, optimal management is unknown, and data is limited.

ACE-inhibitors have been suggested to reduce endothelial proliferation, meaning it reduces the growth of endothelial cells in the blood vessels. ACE-inhibitors might help reduce blood pressure and help with ischemia. Prostaglandins have been suggested to improve microvascular perfusion, meaning they could  help with blood flow and gas exchange in the blood vessels to help with ischemia.

When an acute ischemic stroke occurs, the clot is broken (fibrinolysis) with a tissue plasminogen activator (tPA). tPA is a medication that dissolves clots that is given intravenously.

 

Sneddon syndrome is a chronic, intermittent, or progressive rare disease. It leads to morbidity and dementia in many patients. Neurological symptoms vary depending on the location of the affected blood vessels. Many will experience a reduction and progression of mental and cognitive function decline. There is an estimated 6-year mortality rate of 9.5%.

Avoid smoking and estrogen oral contraceptives to prevent or decrease the severity of neurological symptoms and issues.

Sneddons/Raynauds/Livedo Reticularis Created by tash
Last updated 14 Jul 2017, 07:31 AM

Posted by tash
14 Jul 2017, 07:31 AM

Hi, I have a really good neuro in Perth WA.

His name is Anthony Alvaro. Spends alot of time on me, provides feedback on ongoing treatment and care. 

Always keeps me updated on Sneddons research and linked conditions

Posted by tash
13 Mar 2014, 06:59 AM

Sneddons/Raynauds/Livedo Reticularis-does anyone on this forum know if any current research is being undertaken in regards to these syndromes?

does anyone have a doctor ho has treated SS? Created by CarrieJones
Last updated 13 Jul 2017, 02:25 PM

Posted by kennasym
13 Jul 2017, 02:25 PM

Hello all, I highly recommend Dr. Robertson at USF-Tampa campus.  He is the head of the MS Department within the Neurology department there, he is fabulous!  His group is the one who finally made my diagnosis after about a year and a half post-stroke.  It does take a while to get an appointment (about 6 months) but he is definitely worth it!  The whole staff genuinely cares, and takes my research and input into consideration when deciding on care strategies. I bet they would be excited to have more Sneddon's patients as I seem to be quite the attraction for all the medical students there, they always come through to check me and my chart out since I might be the only Sneddon's patient they ever see in their career.  Dr. Robertson said he had one other one about 20 years ago at the beginning of his career.  He is very quick to fit me in if I call with a new symptom, this happened a few months ago and he got me right in and spent about 40 minutes with me himself. http://health.usf.edu/medicine/neurology/profiles/18333/Derrick-Robertson.aspx

Posted by tash
12 Jul 2017, 12:31 PM

Any updates on our Syndrome...

Posted by tash
1 Oct 2016, 01:10 AM

Hi, im the same with with other issues such as livedoreticularis, raynauds & pericarditis..im on Clopidogrel & asprin occasionally. Also BP medication. My condition is thought to relate to a rare non-inflammatory small vessel vasculopathty.. i have had numerous scans, biopsies etc. Im now under a cardiologist & lung specialist too. Have seen dermatologists & rheumatologist aswell. I hope you find some answers.

View Full Thread (3 more posts)
Community External News Link
Title Date Link
Community Resources
Title Description Date Link
Sneddon's Foundation

The Sneddon's Foundation of the U.S. was formed in May 2008:

 

 

1. To develop a clearinghouse of information on Sneddon's Syndrome in two formats, one for the medical community and one for the community of patients, families, and the general public, and todisseminate both sorts of information through every possible means;

 

 

2. To develop a nexus of commmunication about Sneddon's Syndrome within the patient community, within the medical community and across the divide between the two; and

 

 

3. To encourage and support research on Sneddon's Syndrome in hopes of clarifying both a cause and a cure for this devastating disease.

03/20/2017

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

ladybloobalot

I have Sneddon's Syndrome and am the president of the fledgling US Sneddon's Foundation.

 

Expert Questions

Ask a question

aesRare01 Message
14 Aug 2018, 05:47 PM

Please send me any information you have on diagnosis and treatment of sneddon's syndrome. Also any helpful websites or organizations. Thank you.

Answer

This question has not yet been answered

Jojoart4 Message
5 Nov 2015, 03:57 PM

I just found out I have Sneddon's and was wondering if their is a foundation or org. for this disease. I find very little on the internet. My dermatologist is wanting to send me to Dallas TX for treatment. Thanks Jo

Answer

Hi Jo - So sorry to hear about your diagnosis, but you are very fortunate to have a doctor who recognized the condition! The Sneddon's Foundation website had some issues with the server and that problem coincided with personnel changes that ended up dissolving the site. There will be a new one, but not for a few months.

 

 

I would suggest the site for Sneddon's Syndrome at the European rare disease website called Orphanet, here:

 

 

http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=820

 

 

I do not know of anyone in Dallas who treats Sneddon's, but treating doctors are actually very hard to come by. Beware of anyone who thinks Sneddon's Syndrome is an autoimmune disease - that is not the case. Treatment for autoimmune disease is rarely helpful and use of steroids can cause frequent TIAs and exacerbate other symptoms. One neurologist who does a great job with Sneddon's is Dr. Gretchen Tietjen at University of Toledo. Feel free to contact me if I can be of help - I was the director of the Sneddon's Foundation: drdianeoleary@gmail.com.

 

 

Take good care of yourself!

 

Diane

 

 

tash Message
12 Apr 2014, 12:53 PM

Hi, has there been any further research on treatment ?

Answer

This question has not yet been answered

tash Message
13 Mar 2014, 06:49 AM

Hi Diane, could you please advise of any research currently taking place in regards to new treatment of this syndrome. I have a rare scans that are being researched due to narrowing/curling blood vessels in the brain

Answer

Hello - I have heard many patients report results on brain scans that greatly confuse their doctors. I do not know of any current research, though that doesn't necessarily mean there isn't any. There used to be a collection of researchers in Austria, but they've retired and no group replaced them, I'm afraid.

 

 

Anecdotally, I have heard of patients taking vey small doses of viagra to ward off frequent TIAs. Magnesium supplements seem to help with that as well. Mostly it's high INR warfarin.

 

 

Don't hesitate to drop me a note if you have other questions -

 

All the best -

 

Diane

 

 

drdianeolery@gmail.com

katieindixie Message
10 Sep 2011, 03:52 AM

Do you have any sites you would recommend for getting more educated about this disease? I'm desperately seeking help and a diagnosis. I live in Alabama and have traveled to many cities and recently to Boston to Mass General. I feel like I'm going to die before they finally get it figured out. Would love any help. Thank you, Katie

Answer

Hello Katie - I'm so sorry I didn't know this question was here! I'm not sure how this system works. Maybe I need to just check it periodically.

 

 

In any case, if we haven't connected through the foundation yet, I would like very much to assist you in whatever ways I can. I should be able to direct you to doctors whose understanding of Sneddon's works well with your symptoms and test results.

 

 

I have Sneddon's too and know how terrifying it can be to feel yourself to be so seriously ill while your doctors are just waving you away. My own diagnosis took twelve years.

 

 

Please feel free to write to me either through the "Contact Us" link at the foundation website (www.sneddonsyndrome.org), or at my personal email, which is dianeoleary@earthlink.net.

 

 

Hang in there!

 

 

All the best to you and your family -

 

Diane

 

 

Also try http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=820\\\

Community User List

<p>I am a 64 yr old female ...
<p><strong>Hello, my name i...
My name is Courtney I'm 37 ...
I am 45 years and 10 years ...
*I have been diagnosed at J...
Hi My name is Kerry and I h...
I have had 3 strokes since ...
I have sneddon's syndrome.
Hello My name is Monica and...
I'm a giant jig saw puzzle....
I have been sick for almost...
I have Sneddon's Syndrome a...
My brother was diagnosed wi...

Start a Community


Don't See Your Condition On Rareshare?

Start your own! With a worldwide network of 8,000 users, you won't be the only member of your community for long.

FAQ


Have questions about rareshare?

Visit our Frequently Asked Questions page to find the answers to some of the most commonly asked questions.

Discussion Forum

Sneddons/Raynauds/Livedo Reticularis

Created by tash | Last updated 14 Jul 2017, 07:31 AM

does anyone have a doctor ho has treated SS?

Created by CarrieJones | Last updated 13 Jul 2017, 02:25 PM


Communities

Our Communities

Join Rareshare to meet other people that have been touched by rare diseases. Learn, engage, and grow with our communities.

FIND YOUR COMMUNITY
Physicians

Our Resources

Our rare disease resources include e-books and podcasts

VIEW OUR EBOOKS

LISTEN TO OUR PODCASTS

VIEW OUR GUIDES

Leaders

Our Community Leaders

Community leaders are active users that have been touched by the rare disease that they are a part of. Not only are they there to help facilitate conversations and provide new information that is relevant for the group, but they are there for you and to let you know you have a support system on Rareshare.