title: [Fabry's disease associated with rheumatoid arthritis. Multisystemic crossroads].
abstract: Fabry's disease is a rare congenic disorder of glycosphingolipid catabolism resulting from deficient activity of the alpha galactosidasa. Is an X-linked disorder and in hemizygous males the activity of this enzyme is very low, resulting in severe manifestations. Fabry disease is confirmed by the lack alfa-galactosidase in serum. In the literature have been reported a few cases of coexistent Fabry's disease and connective disorders, but there is not cases of rheumatoid arthritis coexistent. This report describes a case of a female with Fabry's disease who vas subsequently diagnosed with rheumatoid arthritis. The suspect diagnosis was very important because the two disorders are multisystem and new symptoms could be attributed to Fabry's disease. The accumulation of lipids may results in numerous pathogenic autoantibodies, which could make immunocomplex. This is the potential pathogenic mechanisms explaining the association between Fabry's disease and autoimmune diseases.
authors.affiliation: Servicios de Medicina Interna y Reumatología, Hospital Universitario La Paz, Universidad Autónoma, Madrid.
authors.forename: N
authors.initials: N
authors.lastname: Arias Martínez
authors.forename: F J
authors.initials: FJ
authors.lastname: Barbado Hernández
authors.forename: G
authors.initials: G
authors.lastname: Pérez Martín
authors.forename: C
authors.initials: C
authors.lastname: Pérez de Ayala
authors.forename: V
authors.initials: V
authors.lastname: Casal Esteban
authors.forename: J J
authors.initials: JJ
authors.lastname: Vázquez Rodríguez
mesh_terms: D001172:Arthritis, Rheumatoid / Q000209:etiology*; D000795:Fabry Disease / Q000150:complications*; D005260:Female; D006801:Humans; D008875:Middle Aged