Fabry disease: clinical and genotypic aspects of three cases in first degree relatives
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Data
2014-01-01
Autores
Silva, Leticia Bueno Nunes Da
Badiz, Thais Cardoso De Mello Tucunduva
Enokihara, Milvia Maria Simoes E Silva
Porro, Adriana Maria [UNIFESP]
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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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Anais Brasileiros de Dermatologia. Sociedade Brasileira de Dermatologia, v. 89, n. 1, p. 141-143, 2014.