Evaluation and Assessments: The medical management of Fabry disease is diverse and complex and needs to be patient specific. With any multisystemic disorder, effective treatment needs to have a multidisciplinary effort. It is very important that patients be seen at a comprehensive treatment center for a thorough evaluation and assessment in order to develop a complete treatment plan.

Supportive Treatment: The type of pain associated with Fabry disease is extremely challenging to treat. Often Fabry pain can respond poorly to conventional analgesics. Certain anticonvulsant drugs, as reported in many of the publications, have been shown to effectively reduce pain. However, in order for these agents to be effective, you have to take them prophylactic ally. Daily usage can lead to serious side effects. This is why it is extremely important to be monitored closely by a physician with knowledge of Fabry disease.

Certain lifestyle changes can also be helpful in minimizing painful episodes. In the anticipation of exercise or exposure to heat, drink water before and after exercise. Avoidance or minimizing factors that can cause pain such as stress, physical exertion or heat and sun exposure and extreme temperatures can be helpful.

For gastrointestinal distress a number of medications (pancreatic enzyme replacements) have been helpful for some, but not all. Smaller and more frequent meals may be helpful in limiting the amount of diarrhea. Dietary changes can also impact gastrointestinal distress, by reducing the amount of fats.

The treatment for cardiac, pulmonary, cerebrovascular and renal manifestations would be the same as treating the general population with these symptomatic conditions.

Enzyme Replacement Therapy: The most direct approach to reducing the built up substrate and the only disease specific therapy available to Fabry patients. Enzyme Replacement Therapy addresses the enzyme deficiency in Fabry disease by providing an exogenous source of the deficient alpha GAL enzyme. Accumulation of GL-3 is a direct consequence of low or absent alpha-GAL levels. The goal of ERT is to restore enough enzyme to break down the built-up substrate and prevent further accumulation.

Fabrazyme is a recombinant human α-Gal enzyme, indicated for use in patients with Fabry disease, through clinical trials, Fabrazyme has been shown to reduce the build up of GL-3 in the capillary endothelium of the kidney and certain other cell types.

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•  Dosing and Administration
•  Package Insert

A second enzyme known as Replagal, manufactured by Shire/TKT of Cambridge, Ma and is available outside the United States.