All are TRUE about Fabry disease, EXCEPT:: (A) X-linked dominant disorder, (B) Premature atherosclerosis is seen, (C) Retinitis pigmentosa is well described in Fabry, (D) Accumulation of ceramide trihexoside in nerves and blood vessels
Answer is C. Fabry disease (angiokeratoma corporis diffusum) is an X-linked dominant disorder. Angiokeratomas are reddish-purple maculopapular lesions that are usually found around the umbilicus, scrotum, and perineum. Premature atherosclerosis is a feature that often lead to death by the fifth decade of life. Some patients also manifest a dilated cardiomyopathy. Fabry disease is due to mutations in the Alpha-galactosidase gene that leads to the accumulation of ceramide trihexoside in nerves and blood vessels. Retinitis pigmentosa is not a feature of Fabry, it is a feature of Refsum disease. Refsum disease can manifest with the classic tetrad of (1) peripheral neuropathy, (2) retinitis pigmentosa, (3) cerebellar ataxia, and (4) elevated CSF protein concentration.