Fabry Disease

Fabry disease causes a buildup of fatty material in the autonomic nervous system, eyes, kidneys, and cardiovascular system. Fabry disease is an X-linked lipid storage disease, meaning that males are affected primarily. Cases affecting females also occur with symptoms ranging from mild to severe. The inherited deficient enzyme, alpha-galactosidase A (alpha-gal A), causes a build up of glycosphingolipids, which are a type of carbohydrate-attached fat, within the vessels of the lysosome. The accumulation of fatty material damages the autonomic nervous system, eyes, kidneys, and cardiovascular system.

Symptoms

Symptoms of Fabry disease usually appear in childhood or early adolescence and increase with age. Symptoms include an inability to perspire, little body hair, fevers, gastrointestinal problems, renal complications leading to renal failure, and heart enlargement. Many who have the disease experience a feeling of burning pain at the extremities, especially after exercise or in hot weather. Other symptoms include angiokeratomas, which are purplish-reddish small, raised, and benign spots that occur all over the body, but predominantly on the lower torso. There is also a build up of cloudy material in the clear portions of the cornea. This buildup does not affect vision. The accumulation of fatty storage in the blood vessel walls puts the individual at an increased risk for cardiac complications, such as a stroke or heart attack.

Inheritance Patterns

This disorder is an X-linked, inherited lysosomal storage disorder.

Diagnosis and Testing

Diagnosing Fabry disease is a challenge because the range of clinical symptoms are often attributed incorrectly to other diseases, and due to a lack of awareness surrounding this rare disorder. Although symptoms of Fabry disease may first become apparent in childhood, diagnosis is not typically confirmed until 30 years of age. Once an initial clinical diagnosis has been made from the symptoms presented, a biochemical diagnosis measuring a deficiency of enzyme alpha-gal A is performed using white blood cells, tears, or tissue specimens.

Treatment

Recent research has shown that enzyme replacement can reduce the storage of glycosphingolipids, ease pain, and improve organ function. There are many things the affected individual can do to reduce the symptoms associated with Fabry disease. Eliminating strenuous activities helps to lessen discomfort associated with the disease and pain-reducing drugs are often prescribed to alleviate the discomfort. For cardiovascular complications, different medications can be prescribed to control chest pain and prevent blood clotting. Bypass surgery can be performed or pacemakers can be inserted if heart problems are severe or medications cannot control the symptoms.

If renal symptoms are mild, a low-protein diet is often recommended. Should symptoms become more severe, some patients may undergo kidney replacement or dialysis. Taking enzymes, motility agents, as well as following a low-fat diet are often recommended to control gastrointestinal symptoms. Laser technology can also remove skin rashes associated with Fabry disease.

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