Fabry disease: clinical and genotypic aspects of three cases in first degree relatives.

[fabry disease]

Fabry disease is an X-linked , lysosomal storage disease caused by the inherited deficiency of the enzyme Î±-galactosidase A . The diagnosis is usually late , with renal , cardiovascular and /or cerebral complications that reduce life expectancy . Angiokeratomas are asymptomatic lesions present as the initial manifestation and usually less appreciated . Their detection is important for early diagnosis and institution of treatment with enzyme replacement therapy , which prevents late complications reducing morbidity and mortality . We report a case of a male teenager with acroparestesias and angiokeratomas . Family medical research discovered that his mother and brother had similar signs and symptoms and that the three patients had the same mutation in the gene encoding the enzyme , confirming the diagnosis .