Fabry Disease

Fabry disease is an X-linked lysosomal alpha-galactosidase-A deficiency causing globotriaosylceramide accumulation in vascular endothelium, kidney, heart, and brain. Classic males: acroparesthesias, angiokeratoma corporis diffusum, hypohidrosis, corneal verticillata, progressive renal failure, hypertrophic cardiomyopathy, and stroke. Heterozygous females may be symptomatic. Treatment: enzyme-replacement therapy (agalsidase) plus supportive renal/cardiac care.

Common Symptoms

Acroparesthesias; angiokeratoma; hypohidrosis; corneal verticillata; renal failure; cardiomyopathy; stroke

Causes and Pathogenesis

Alpha-galactosidase-A deficiency causes globotriaosylceramide accumulation in vascular/renal/cardiac/neural endothelium, causing ischemia and organ failure.

Treatment

Enzyme-replacement therapy; chaperone therapy; supportive renal/cardiac/cerebrovascular care; pain management

Preventive Measures

Family screening; enzyme replacement early; manage renal/cardiac risk.

Department to Visit

It is recommended to visit the Nephrology department; an appointment can be booked on this platform before the visit.

Warm reminder: The above information is for health science reference only and cannot replace professional medical diagnosis. If you have related symptoms, please seek medical attention at a regular hospital promptly.