31. Fabry’s Disease
Definition
Fabry’s disease is a genetic, congenital, X-linked disorder of glycosphingolipid metabolism that is progressive, destructive, and potentially fatal.
Incidence
Internationally, among males, the incidence of Fabry’s disease is 1:40,000 to 1:60,000. Among all live births it is 1:80,000 to 1:117,000. Because Fabry’s disease is an X-linked inherited disease, it is males who are affected almost exclusively.
Etiology
Alpha-galactosidase A (α-GAL A) deficiency results from an abnormality on the long arm of the X chromosome, specifically Xq22.
Signs and Symptoms
• Acroparesthesias (episodic and chronic)
• Angiokeratomas
• Aplasia
• Cardiomegaly
• Conduction defects
• Diplopia
• Dysarthria
• Hemianopia
• Hemiparesis
• Internuclear ophthalmoplegia
• Left ventricular hypertrophy
• Lens opacities
• Myocardial infarction
• Nystagmus
• Peripheral neuropathy
• Progressive renal failure
• Proteinuria
• Retinal and conjunctival vascular malformations
• Sensory loss
