Fabry’s Disease

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

Aug 5, 2016 | Posted by in ANESTHESIA | Comments Off on Fabry’s Disease

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