Fabry disease is an X-linked, lysosomal storage disease caused by the inherited
deficiency of the enzyme α-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.
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