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

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.

Bibliographic Details

Main Authors:	Silva,Leticia Bueno Nunes da, Badiz,Thais Cardoso de Mello Tucunduva, Enokihara,Milvia Maria Simoes e Silva, Porro,Adriana Maria
Format:	Digital revista
Language:	English
Published:	Sociedade Brasileira de Dermatologia 2014
Online Access:	http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0365-05962014000100141
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