[Diagnosis of Fabry disease: usefulness of the clinical investigation]. / Le diagnostic de la maladie de Fabry: intérêt de l'enquête clinique.

ABSTRACT

Fabry disease, an X-linked lysosomal storage disorder due to alpha-galactosidase A deficiency, leads to an accumulation of globotriaosylceramide resulting in a multisystemic disorder. The initial manifestations of the disease are not specific, leading to a delayed diagnosis. We report a patient in whom the diagnosis was obtained by family screening and the confrontation of clinical signs. We also present a 4 year follow-up under enzyme replacement therapy (agalsidase ß, 1 mg/kg/14 days).