Wednesday, June 12, 2024

Genetics of Fabry Disease

Background

Fabry disease is an X-linked lysosomal storage disease that is caused by deficient activity of lysosomal enzyme α-galactosidase A (α-Gal A). Most males with no α-Gal A activity develop the classic phenotype of Fabry disease, which affects multiple organ systems. The first clinical manifestations of the disease, which consist of episodes of severe pain in the extremities (acroparesthesias), hypohidrosis, corneal and lenticular changes, and skin lesions (angiokeratoma), develop in childhood.
See the images below.

Angiokeratoma is the small punctate reddish-to-blu

Angiokeratoma is the small punctate reddish-to-bluish angiectases on the umbilicus.

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Angiokeratomas are commonly observed as dense clus

Angiokeratomas are commonly observed as dense cluster of lesions on the flank and private areas.

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Corneal verticillata, commonly seen in patients wi

Corneal verticillata, commonly seen in patients with Fabry disease, detectable by slit lamp examination.

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The rate of disease progression and specific organ damage demonstrate intrafamilial and interfamilial variability. Renal failure, cardiovascular disease, and stroke are the major causes of morbidity and mortality, occurring in the fourth or fifth decade of life.

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