20 1 
Home Page  

  • SciELO


Anales de Medicina Interna

 ISSN 0212-7199

ARIAS MARTINEZ, N. et al. Fabry's disease associated with rheumatoid arthritis: A multisystem crossroad. []. , 20, 1, pp.36-38. ISSN 0212-7199.

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 coexistant Fabry's disease and conective disorders, but there is not cases of rheumatoid arthritis coexistant.  This report describes a case of a female with Fabry's disease who vas subsequently diagnosed with reumatoid arthritis. The suspect diagnosis was very important because the two disorders are multisystem and new simptoms culd be attributed to Fabry's disease.  The accumulation of lipids may results in mumerous pathogenic autoantibodies, which could make inmunocomplex. This is the potential pathogenic mechanisms explaining the association between Fabry's disease and autoinmune diseases.

: Fabry’s disease; Rheumatoid artritis; Multisistemic disorders.

        · |     · |     · ( pdf )

 

Creative Commons License All the contents of this journal, except where otherwise noted, is licensed under a Creative Commons Attribution License