~ The Sneddon’s Foundation: Healing Through the Flow of Information ~

 

 

Frequently Asked Questions

(Please feel free to contact us with any questions we don't answer here!)

 

Note: The information provided on this website is not intended for diagnostic purposes. It is provided for informational purposes only. The Sneddon’s Foundation recommends that affected individuals seek the advice or counsel of their own personal physicians.

 

 

 

 

Sneddon’s Syndrome is a rare, though underdiagnosed, vascular disease that affects women more often than men.  Its primary symptoms are “Livedo Reticularis” (a bluish-purple, net-like mottling on the skin that often gets worse in the cold) and transient neurological episodes that can be very severe.  Some patients with Sneddon’s have TIA’s (“transient neurological attacks”) which they will sometimes describe as “episodes” or “spells”, during which they might have confusion, speech difficulties, dizziness, collapse, weakness, numbness or tingling on one side of the body, drooping on one side of the face, or vision problems.  Some Sneddon’s patients have full strokes.  Many Sneddon’s patients have problems with memory or concentration and these sometimes develop into dementia even in younger patients.

 

There are many problems that can occur with Sneddon’s patients though these are not all fundamental to the diagnostic process and not all Sneddon’s patients will have them: high blood pressure, autoimmune diseases like Systemic Lupus, dizziness (both during and not during episodes), head pain, unusual muscle spasms, eye pain, trembling, heart problems, Raynaud’s (a sensitivity of fingers and toes to cold, leading them to change colors), kidney problems, seizures, fetal loss, character changes, anxiety and depression.

 

 

 

How Does Sneddon's Develop?

 

Sadly, little is known about exactly how Sneddon’s Syndrome develops and progresses in the body.  Because it has been known to occur among siblings or other family members most researchers believe Sneddon’s Syndrome is genetic. Some researchers have suggested that it is a lifelong deterioration of the linings of the blood vessels (or a proliferation and drifting of the material that lines the vessels), and in this sense Sneddon’s is a progressive disease.  Once the vessels have deteriorated to a certain point the patient will develop clotting abnormalities in the blood and this is Sneddon’s primary threat.  Some researchers believe that when clotting begins to occur Sneddon’s also causes vascular spasms in the brain similar to those we see evidenced in the skin as livedo reticularis.

 

Many researchers believe that the disease tends to develop along these lines: As a child the patient may experience Livedo Reticularis of the skin (though a great many people with livedo reticularis do not have Sneddon’s Syndrome), and perhaps also headaches, trembling or Raynauds (color changes in the fingers and toes in response to cold).  At age 30-40 severe, though usually transient, neurological symptoms will begin to occur.  Non-transient memory problems often develop roughly ten years after the patient's first neurological episodes, and these can develop into early onset dementia.  Sneddon’s patients who have strokes may have them at any time, and of course the potential lasting effects of stroke are wide-ranging and very well known.

 

Many Sneddon’s patients and their families are terrified by the “progressive” nature of Sneddon’s Syndrome, but it is not clear that the actual symptoms of Sneddon’s will always get worse as the patient gets older, especially with proper treatment.  It is certainly not clear that all Sneddon’s patients will ultimately face dementia or stroke.  Medical researchers have not assessed the long-term affects of proper treatment, but those familiar with many Sneddon’s patients seem to agree that when treated properly many Sneddon’s patients do not develop dementia and many, or even most, will not have strokes.

 

 

 

How was Sneddon’s First Discovered and Understood?

 

“Sneddon’s” Syndrome was first described in 1965, by a doctor of that name, as a combination of transient neurological episodes with vascular causes and widespread livedo reticularis.  It was discovered not long thereafter that people with livedo are much more likely to have strokes.

 

For many years it was thought that Sneddon’s Syndrome was a form of another disease, called “Antiphospholipid Syndrome” (“APS” or “APLS”) or “Sticky Blood Syndrome” or “Hughes Syndrome”.  Sneddon’s and APS are very similar.  They have similar (though not identical) symptoms and, like APS patients, many Sneddon’s patients have Systemic Lupus or some similar autoimmune disorder.

 

There are definitive blood tests for APS and for many years only patients with positive results on those tests were given a diagnosis of Sneddon’s Syndrome.   More recently, it has been shown that most Sneddon’s patients do not, in fact, have positive results on those tests.  As a result, doctors often use the terms “aPL-positive” and “aPL-negative” now to clarify which sort of Sneddon’s patient they’re working with (though as of yet, no clear difference between them in terms of symptoms has been established).

 

While APS is itself an autoimmune disease (like Systemic Lupus), Sneddon’s Syndrome is no longer understood as an autoimmune disease, but is now classified as a “cerebrovascular disease” instead.  This difference has wide-reaching importance when it comes to the process of diagnosis and treatment.   Many doctors may not be aware of this fundamental change in the way Sneddon’s is understood.

 

 

 

How is Sneddon’s Syndrome Diagnosed?

 

For someone with Sneddon’s Syndrome the process of diagnosis can be extremely difficult.  It is not uncommon for Sneddon’s patients to spend many years in the diagnostic process and to struggle, even long after the diagnosis has been clarified, with the trauma of their diagnostic years.

 

There is no consensus among doctors and researchers as to how a diagnosis of Sneddon’s Syndrome should be made, though there do seem to be some common assumptions. To begin, Sneddon’s Syndrome is considered in patients who have the combination of livedo reticularis and transient, generally severe, neurological problems. 

 

Once the two fundamental problems are seen to be present and in need of explanation and treatment, doctors will often begin assessing for Sneddon’s by doing blood tests for “antiphospholipid antibodies”.  A positive result on one of these tests will often (in combination with livedo, episodes, and evidence of other typical Sneddon’s problems) lead a doctor to make a Sneddon’s diagnosis.  Most people with Sneddon’s Syndrome will not have a positive result on these tests, however – a fact doctors doing the test must be careful to acknowledge.

 

Some doctors believe that a skin biopsy is the best method for diagnosing Sneddon’s.  Unfortunately, it is difficult to find a dermatologist familiar enough with Sneddon’s to do the biopsy confidently.  Moreover, it has been shown that a significant number of people with Sneddon’s Syndrome will have a normal result on the biopsy even when it’s performed by an expert, so a normal skin biopsy cannot be used to rule out a diagnosis of Sneddon’s.

 

An MRI of the brain seems to be the most useful neurological test when it comes to diagnosing Sneddon’s.  In a patient who has livedo and transient neurological episodes, an MRI showing “infarcts” (areas of dead brain tissue caused by an obstruction of blood supply) will be sufficient for confirming a diagnosis of Sneddon’s.

 

If a patient with Sneddon’s basic symptoms has an MRI that shows “lesions in the white matter” or “white matter disease”, and the patient is under age fifty, that is often considered sufficient for a diagnosis of Sneddon’s.  A few white matter lesions can be perfectly normal, however, and doctors may dismiss an MRI as normal with this result.  If you or your doctor suspect Sneddon’s Syndrome it is important to look carefully at the report even if it is ultimately described as normal.  It is also important to keep in mind that quite a few white matter lesions would be expected in the brain of an older patient.  Moreover, there are some patients whose MRI results remain normal even through the development of severe disability due to Sneddon’s.  Like the skin biopsy, a normal MRI cannot be used to rule out Sneddon’s Syndrome.

 

If a patient is having memory or concentration problems it is often diagnostically useful to have cognitive testing to determine exactly what these problems are and how severe they may be.  Not all Sneddon’s patients have cognitive problems, however, and those who do often develop them only after many years of untreated episodes.  That is to say, unfortunately, that normal cognitive tests cannot be used to rule out Sneddon’s either.

 

A Sneddon’s patient with a normal result on antiphospholipid antibody tests and without infarcts on the MRI is in a very difficult position, and so is her, or his, doctor.  Many doctors will be reluctant to make a “clinical diagnosis” of Sneddon’s (that is, a diagnosis based primarily on symptoms) because they don’t feel they have the necessary expertise.   

 

Generally speaking, a doctor faced with such a patient – i.e. someone who has livedo, who suffers with severe transient neurological problems, who also struggles with dizziness, head or eye pain or other typical Sneddon’s symptoms – will use treatment for diagnostic purposes.  When symptoms are severe and there is strong suspicion of Sneddon’s Syndrome, a trial period on anticoagulant medications is typically offered to the patient (assuming all relevant risk factors have been assessed and carefully explained to the patient).  If the patient improves significantly on these medications a diagnosis of Sneddon’s Syndrome is often considered to be confirmed.

 

 

 

How is Sneddon’s Syndrome Treated?

 

For many years there was significant confusion among doctors as to how Sneddon’s Syndrome should be treated.  When it was believed that Sneddon’s Syndrome is an autoimmune disease doctors often treated it with steroids (like Prednisone or SoluMedrol) or immunosuppressant medications (like Azathioprine or Cytoxin), but research has shown that these medications are not effective in treating Sneddon’s even when the patient also has autoimmune disease.

 

Doctors now believe that treatment with anticoagulant medications is necessary for all Sneddon’s patients.  Generally speaking, it is thought that milder anticoagulants, like aspirin and clopidogrel (“Plavix”), are not sufficient to treat Sneddon’s (even though they are sometimes strong enough for patients with the very similar disease Antiphospholipid Syndrome).  Alternatively, some Sneddon’s patients are given “low molecular weight heparin” (also known as “Lovenox”) through daily injections at home. 

 

Most often, Sneddon’s patients are treated with Warfarin (also known as “Coumadin”).  Because many other medications, and many foods, affect the way the body metabolizes Warfarin, this medication requires regular monitoring through blood tests or finger stick to make sure that the level of anticoagulation is maintained consistently. 

 

Doctors and “Coumadin Clinics” keep track of the level of anticoagulation in a patient’s blood through measuring the patients “INR” (for “International Normalized Ratio”).  It is generally believed that the Sneddon’s patient needs to maintain an INR between 3-4 (while patients with Antiphospholipid Syndrome are maintained at a lower lever, between 2-3).  Some research suggests that neurological events occur when a Sneddon patient’s INR drops to 2 or below.

 

It is crucial for Sneddon’s patients to be constantly aware of the risks involved in taking this medication.  Regular monitoring is absolutely essential, as is avoidance of any activity that can cause bleeding.  Warfarin is an anti-clotting medication and there are times, as with injury, when an inability to clot can be extremely dangerous.

 

 

 

 

Unfortunately, it seems that general medical training has not typically included familiarizing new doctors with Sneddon’s Syndrome.  Very few general practitioners would know to consider a Sneddon’s diagnosis even when a patient with constant severe livedo is disabled by unexplained neurological problems.  If the MRI does not show any major abnormalities – which, unfortunately, it often doesn’t – the Sneddon’s patient is frequently ignored, often labeled as a “difficult patient”, and not uncommonly humiliated by the suggestion that her, or his, symptoms are caused by stress or anxiety.  Because early treatment may be essential to effective management of Sneddon’s Syndrome, this problem is no small matter.

 

Sneddon’s has been reported to occur with a frequency of four cases per million people.  It is generally believed, however, that this figure is not a real measure of how often the disease occurs, but rather of how rare it is for doctors to be familiar enough with the disease to pursue it as a diagnostic possibility.  That is to say that there are a great many people who currently suffer from Sneddon’s Syndrome but have been given a diagnosis of “anxiety”, no diagnosis, or an actual misdiagnosis.

 

Migraine

If the Sneddon’s patient has severe head or eye pain often she, or he, is misdiagnosed with migraine.  When memory problems develop, sometimes doctors will attribute those to migraine as well and not pursue further testing.  Fortunately, recent work in headache clinics has shown a strong correlation between headache patients who have livedo reticularis and those who go on to have stroke.  Hopefully, at some point all patients diagnosed with migraine who do not respond to treatment will be routinely evaluated for livedo reticularis, and considered for Sneddon’s Syndrome when livedo is apparent.

 

Systemic Autoimmune Disease

If the Sneddon’s patient also has an autoimmune disease, such as Systemic Lupus, Behcet’s, or Mixed Connective Tissue Disease - as many Sneddon's patients do - a rheumatologist will often attribute both livedo reticularis and transient neurological problems to the autoimmune disease and not proceed with further testing or anticoagulant treatments.  Unfortunately, even when rheumatologists are aware of Sneddon’s Syndrome, many are unaware of recent research showing that most Sneddon’s patients do not have a positive result on blood tests for antiphospholipid antibodies.  Similarly, sometimes they are not aware of research showing that Sneddon’s will not respond to treatment for autoimmune disease even when the patient does actually have an autoimmune disease in addition to Sneddon’s.  When rheumatologists understand Sneddon’s as “secondary to” Lupus or another autoimmune disease often they do not consider the treatment with warfarin that Sneddon’s patients need. 

 

CNS Vasculitis

When neurological problems are severe in patients with autoimmune disease the patient is very often misdiagnosed with the autoimmune disorder “CNS Vasculitis” (also known as “Vasculitis of the Brain”) and treated with high doses of steroids and immunosuppressants.  Some doctors believe that steroids make Sneddon’s symptoms more frequent and more severe. 

 

Some research suggests that the overwhelming majority of patients diagnosed with CNS Vasculitis are not actually suffering from autoimmune, or “inflammatory” problems of the brain, but rather from “vasculopathies” like Sneddon’s Syndrome, which must be treated with warfarin rather than immunosuppressant medications.

 

Finally, when Sneddon’s patients do have a positive result on the antiphospholipid antibody tests many doctors will understand them to have Antiphospholipid Syndrome rather than Sneddon’s Syndrome.  Fortunately, most APS patients are treated with warfarin just as patients diagnosed with Sneddon’s would be.  Lack of information about the differences between the two diseases does continue to be a problem on two counts, however.  First, APS is an autoimmune disease and Sneddon’s is not.  That is to say that, while Sneddon’s is generally treated by rheumatologists, Sneddon’s must be treated by neurologists (or, when autoimmune disease is also present, by a team of rheumatologists and neurologists).  Second, patients with APS are generally understood to have strokes, not TIA’s or “severe but transient neurological events”.  Treating a Sneddon’s patient as an APS patient can lead doctors to dismiss the severity and the importance of what patients endure during these episodes.  Finally, it is generally believed that APS patients will do well with a relatively low level of anticoagulation (INR 2-3), while it is generally believed that Sneddon’s patients need a higher level (INR 3-4).  That small difference in treatment protocol can make the difference between disability and ability for a patient who actually has Sneddon’s Syndrome rather than APS.

 

 

 

Where Can Sneddon’s Patients and their Families Turn for Support?

 

Until very recently, there were few resources for the Sneddon’s patient, or the doctor working to diagnose or treat Sneddon’s.  Both doctors and patients can search under Sneddon’s Syndrome at the National Library of Health website (at www.pubmed.com), but most of what’s there is difficult for the ordinary patient to understand and there is too much of it for the doctor to wade through for the information needed.  Unfortunately, neither the National Stroke Association nor the National Institute for Neurological Disorders even has a listing that defines Sneddon’s syndrome for doctors or patients looking for answers. 

 

The Sneddon’s Foundation is working to remedy these oversights by creating at its website a topic-based listing of medical abstracts about Sneddon’s Syndrome with links to the full medical papers each abstract describes.  We are working too to communicate with larger stroke organizations so that information about Sneddon’s is not so hard to come by.

 

Because of the enormous physical challenges patients with Sneddon’s face, because those challenges can sometimes affect the patient’s thinking and even her, or his, character, and because the process of being diagnosed with Sneddon’s Syndrome can be extremely traumatic, patients with Sneddon’s Syndrome need places to turn for support.  They need to know that, yes, there are others who’ve endured the same episodes, the same fear about waning memory skills, and the same dismissive responses from doctors unfamiliar with their disease.  Because of the enormous range of difficulties it poses, Sneddon’s Syndrome can be a formidable challenge for family members as well. 

 

The National Organization for Rare Disorders (NORD) has information about Sneddon’s, as well as a networking process that puts patients with Sneddon’s Syndrome in touch with each other.

 

The Sneddon’s Foundation is working to establish a complete listing of U.S. patients with Sneddon’s Syndrome, and to create online discussion tools that allow patients and their family members to freely interact with others about all aspects of this difficult disease.  Similarly, we are working to develop a listing of doctors throughout the country who diagnose and treat Sneddon’s.  In the meantime, The Sneddon’s Foundation remains eager to respond to your questions and concerns through the “Contact Us” page at our website.

 

Please keep in mind that all Sneddon’s patients benefit when even a single new Sneddon’s patient contacts the organization.  Because so much of what is known about Sneddon’s was learned from very small samplings of Sneddon’s patients, the larger a group we can create, the easier it will be for doctors and researchers to make progress in clarifying and treating this difficult disease.

 

 

 

~ The Sneddon’s Foundation: Healing Through the Flow of Information ~