title: [A family with a rare disease].
abstract: Fabry disease (FD) is a rare disorder resulting from mutations of the alpha-Galactosidase A lysosomal enzyme gene. Accumulation of enzyme substrates leads to multisystemic clinical manifestations and multiorgan progressive damage with high morbidity and mortality. Recombinant enzyme replacement therapy (RERT) now available aims to delay or even avoid the complications of FD. The index case was a 50-year-old man with bone pain since childhood, coarse facies, angiokeratomas, anemia, renal failure, proteinuria, sinus node disease, valvular disease and massive left ventricular hypertrophy and brain ischemic alterations. FD diagnosis was confirmed during hospital admission for bacterial endocarditis leading to death. Family screening revealed an affected brother with acroparesthesia, chronic cough, sinus bradycardia, long QT interval and near-nephrotic proteinuria, now under RERT. Their mother was not screened due to stroke sequelae. This report illustrates the need for early diagnosis, family screening and treatment, aiming to change the natural history of FD.
authors.affiliation: Serviço de Medicina Interna 1, Hospital de São Teotónio, Viseu.
authors.forename: Joana
authors.initials: J
authors.lastname: Capelo
authors.forename: Carlos
authors.initials: C
authors.lastname: Soares
authors.forename: Adelino
authors.initials: A
authors.lastname: Carragoso
authors.forename: Pedro
authors.initials: P
authors.lastname: Ribeiro
authors.forename: Fernando
authors.initials: F
authors.lastname: Girão
authors.forename: Pedro
authors.initials: P
authors.lastname: Henriques
mesh_terms: D000795:Fabry Disease / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D010375:Pedigree