If you're living with a chronic illness, you're in the right place.

Friday, March 21, 2014

In the Spotlight: Sneddon Syndrome

2:45 PM Posted by Tiffany Taft , ,
Our third entry for our "Rare Disease of the Month" theme for 2014 is Sneddon Syndrome.  I have a friend who is affected by this condition and she inspired me to add this to our list of conditions that we're trying to increase awareness of and knowledge about.  We hope you find this useful.  If you or someone you know lives with Sneddon's, we'd love to hear from you about your experience.

Snapshot:  Sneddon syndrome is a rare disease that affects a person's circulatory system, namely their arteries which are responsible for taking blood away from the heart to all the other parts of the body.  Women tend to be diagnosed more frequently than men, and it usually shows up in the 3rd decade of life.  Sneddon's syndrome was first identified in 1965 and the incidence rate (the number of new cases) is estimated at 4 cases per million people per year in the United States.

What is it?
Sneddon syndrome is a chronic, progressive condition that affects a person's arteries, and subsequently impacts the flow of blood to different parts of the body. The arteries in a person living with Sneddon syndrome deteriorate, which can lead to very small blood clots that can lodge in smaller blood vessels, including in the brain which results in stroke.  Recent research classifies Sneddon's as a systemic disease that can affect any part of the body, although it usually affects the brain.  It is not an autoimmune disease like Lupus, however. Sneddon syndrome is thought to be genetic and a dominant trait, which means if 1 parent carries the gene for Sneddon's the child has a 50% chance of inheriting the gene.  It's important to note that not everyone with the gene will develop the disease.

How Common is it?
Sneddon syndrome is very rare and actual rates in the United States are difficult to find.  We do know that the rates of newly diagnosed cases is around 4 in 1 million per year.  Women are more likely to be affected than men.

What about Diagnosis and Treatment?
Early signs of Sneddon's include a condition called livedo reticularis, which is a mottled pattern on the skin that looks a bit like a purple lace discoloration and is often made worse by cold temperatures.

Livedo Reticularis of the Legs and Feet
Other symptoms include headaches, changes in thinking and memory, seizures, tremors, or Raynaud's syndrome which involves color changes to the hands and feet in response to cold temperatures.  People with Sneddon's often describe "spells" or "episodes" where they feel confused, off-balance, or weak. They may have trouble speaking, have vision problems, or experience tingling sensations in their body.  These spells are not necessarily strokes, but are signs that some impact is happening in the brain.  If the person does have several small strokes that damage the brain, early-onset dementia can occur, in addition to the other potential damaging effects of brain injury.

Sneddon syndrome is difficult to diagnose, and unfortunately many people take many years to receive a definitive answer.  In the past, when Sneddon syndrome was thought to be autoimmune, it was treated by rheumatologists; now that it is better understood, a neurologist is who typically can diagnose the condition accurately.  Experts on Sneddon syndrome are not readily available to most patients, and some must travel hundreds of miles to find a physician who is familiar with the disease.

Unfortunately there is no consensus among doctors as to how to diagnose Sneddon syndrome.  Preliminary blood tests for substances called "antiphospholipid antibodies" have questionable accuracy (many people with Sneddon's do not test positive).  Other tests include skin biopsies and MRI scans of the brain to detect lesions that you wouldn't expect in a person under 50 years of age.  If the diagnosis is unclear, some doctors will give a trial dose of the medication Warfarin or other anticoagulants (medications that break up blood clots) to see if the patient gets better.

Anticoagulants are the main treatment of Sneddon syndrome.  These medications must be closely monitored to ensure the proper dose is being given.  Patients need to be careful of any activity that could cause excessive bleeding since their blood may not clot properly due to their treatment.

What is the Social and Emotional Impact?
When I searched for psychosocial research on Sneddon syndrome I came up with 0 studies.  Unfortunately this is a very under-researched disease, especially when it comes to the social and emotional impact.  So I will do my best to try to discuss this without any research to back it up.  First, based on the potential for stroke and limited physicians and treatments available, it's not far reaching to think living with Sneddon syndrome can be highly anxiety provoking.  Any condition that is poorly understood and that can take years to achieve a diagnosis is going to create intense emotions because of its uncertainty.  We know that people who experience stroke are at increased risk for depression due to the loss of functioning that often occurs.  It's logical to think that those who live with Sneddon syndrome and experience similar losses would also report feeling sad or depressed.  I think the the Sneddon's Foundation website sums it up best with this statement:

"For many patients the combination of this unbearable, unpredictable symptom and the loss of hope for treatment is the greatest difficulty to face with this disease, and the area in which they need the greatest support."

Helpful Resources:

List of Sneddon's Research:  http://sneddonsyndrome.org/medical-research/research/

National Organization for Rare Diseases (NORD) Sneddon Syndrome page (includes information for several agencies dedicated to Sneddon's information and research:  https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/1020/viewAbstract