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This 38-year-old man suffered for many years from episodes of excruciating leg pains and intermittent tingling sensations in hisfingers. His older brother and maternal uncle had died of kidney disease.
An inborn error of glycosphingolipid catabolism resulting from deficiency of the enzyme alpha-galactosidase A. Transmitted by anX-linked recessive gene, the enzymatic defect causes widespread deposition of glycosphingolipids, mainly ceramide trihexoside. Affected vessels becomenarrowed, and the consequent tissue ischemia presumably accounts for many of the clinical features. Women usually are carriers.
The telltale sign of Fabry’s disease is the angiokeratoma—distended capillaries protruding into a hyperkeratotic epidermis(image 3). These lesions appear as discrete, punctuate, purple-red papules predominantly in the “bathing suit” area (images 1&2).
Another hallmark is pain, often debilitating, and usually in the extremities. It may be constant or may occur in crises that lastfrom minutes to several days.
Additional manifestations include acroparesthesias, cardiac abnormalities, and intracranial events. Renal failure is the usual causeof death.
Prevention is the most effective therapy; hence, genetic counseling is essential.
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