This disease is inherited in an X-linked recessive pattern. This means boys are more likely to have disease.
Enzyme deficient in Fabry's disease that usually breaks down ceramide trihexoside.
Substance accumulated in this disease due to deficient enzyme.
Patients with Fabry's disease display decreased sweating, or hypohidrosis. This presents in childhood or adolescence, and has been attributed to selective peripheral nerve damage, or to intracytoplasmic lipid deposits in the small blood vessels surrounding sweat glands.
Angiokeratomas are benign, red scaly papules that represent enlarged vascular spaces in the top layer of the dermis. In addition, there is thickening of the overlying epidermis with hyperkeratosis. In Fabry's disease, angiokeratomas can be extensive and spread all over the body.
This is episodic pain or tingling in extremities caused by damage to nerve fibers from accumulation of ceramide trihexoside.
Cardiac complications occur when ceramide trihexoside builds up in heart cells. Hypertension and cardiomyopathy are commonly observed.
Kidney complications are common in Fabry's. Proteinuria is often the first sign of kidney involvement. End stage renal failure typically occurs in third decade and is common cause of death due to the disease.
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