Manifestaciones Musculoesqueléticas de la enfermedad de Fabry: reporte de un caso

Blanca Elena Rios Gomes Bica, Lina Maria Saldarriaga Rivera, Breno Valdetaro Bianchi

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Resumen

La enfermedad de Anderson-Fabry es una enfermedad genética, de carácter hereditario, que causa la deficiencia o ausencia de la enzima alfa-galactosidasa (α-Gal A) llevando al acúmulo de globotriacilceramida (GL-3) en diversas células causando sus manifestaciones clínicas, siendo considerada la segunda enfermedad de depósito mas común después de la enfermedad de Gaucher. Describimos el caso de un paciente que presento manifestaciones musculoesqueléticas compatibles con la enfermedad de Fabry.

Palabras clave

Enfermedad de Fabry; manifestaciones musculoesqueléticas; genética

Referencias

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