Since the age of 10 this 28-year-old man has had multiple progressive dark red papules on the lower half of the body associated with episodic heat-triggered acral pain, decreased sweating, dry skin, abdominal pain and an impaired quality of life. He had relatives with chronic burning pain in the extremities, bowel disorders, red purple papules, psychiatric and cardiac diseases. The clinical suspicion of Fabry disease was confirmed with low alpha-galactosidase A activity in blood and a mutation in the alpha-galactosidase A gene. Additional findings included microalbuminuria, perypheral neuropathy, vascular tortuosity in conjunctiva and retina as well as cornea verticilata..
Fabry disease is a rare X-linked disorder caused by deficient activity of the lysosomal enzyme alpha-galactosidase A. Progresive accumulation of the substrate globotriaosylceramide in cells throughout the body leads to major organ failure and premature death. Enzyme replacement therapy with agalsidase alpha leads to significant clinical benefits in patients with Fabry disease, and treatment is likely to alter the natural history of this disorder.
