Fabry Disease Neurologic Symptoms

The most severe impacts from lipid accumulation (primarily GL-3) to the nervous system are Strokes and Transient Ischemic Attacks (TIAs) commonly referred to as mini-strokes. Strokes and TIAs, which are caused by inadequate blood flow to the brain, are believed to occur primarily due to lipid accumulation causing constriction and obstruction of the blood vessels. Improper function of damaged nerve cells caused by lipid accumulation may also contribute to these events.

Both nerve cell damage and loss from lipid accumulation as well as from constriction and obstruction of blood vessels that carry oxygen and nutrients to the organs and tissues may contribute to nervous system damage. Aside from strokes and TIAs, many of the other symptoms of Fabry disease that result in an individual’s diminished quality of life may be related to nerve cell damage.

The earliest symptoms experienced are often episodes of burning or tingling pain primarily in the hands and feet (acroparesthesias). They have been reported to occur as early as age 2. Recurring sudden onset of pain (pain crises) can be mild to severe and may last minutes to several weeks, and can be accompanied by fatigue, low-grade fever and joint pains.

Onset of Central Nervous System (CNS) symptoms (primarily strokes and TIAs) have been shown to occur earlier in males (average age 34) than in females (average age 40). CNS complication may increase with age, and mild dementia (loss of mental ability severe enough to interfere with normal activities) may appear.

Other nervous system related symptoms include deficient perspiration (hypohidrosis) or absent perspiration (anhidrosis), poor temperature and exercise tolerance, poor blood pressure regulation and often low blood pressure, inhibited blood-flow to the brain, impaired pupil constriction, gastrointestinal issues with pain, and decreased tear and saliva formation. Occurrence of these symptoms which are all very common among individuals with Fabry disease can severely inhibit an individual's ability to lead a normal life.

It is very important for individuals with Fabry disease to monitor their activities to avoid pain, limit exposure to extreme temperatures, and stay well hydrated.

A comprehensive neurological evaluation is essential, particularly before beginning Enzyme Replacement Therapy (ERT) if possible, to assess disease extent and severity. Please see the journal article below for more precise details about nervous system involvement and for specific recommendations for evaluation and management of nervous system symptoms. According to the referenced journal article, nervous system symptoms are among the evaluation considerations for offering ERT to females. All adult males should be offered treatment with Enzyme Replacement Therapy.

Note: The primary sources of this information are the September, 2006 Genetics in Medicine journal article entitled "Fabry disease: Guidelines for the evaluation and management of multi-organ system involvement" (link below), and the expert opinion of the NFDF medical advisory board. Much of the information has been reworded, reducing the amount of medical terminology, to make it more readable for the general public.

Fabry Disease Guidelines For The Evaluation and Management of Multi-Organ System Invovlement

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