Journal of Inherited Metabolic Disease

, Volume 30, Issue 3, pp 365–369 | Cite as

High incidence of autoantibodies in Fabry disease patients

  • P. Martinez
  • M. Aggio
  • P. Rozenfeld
Original Article


Fabry disease (FD) is an X-linked disorder of glycosphingolipid catabolism that results from a deficiency of the lysosomal enzyme α-galactosidase A. This defect leads to the accumulation of its substrates, mainly globotriaosylceramide, in lysosomes of cells of different tissues. Different studies have shown the involvement of immunopathologies in different sphingolipidoses. The coexistence of FD and immune disorders such as systemic lupus erythematosus, rheumatoid arthritis and IgA nephropathy, has been described in the literature. The aim of this study was to evaluate the prevalence of a group of autoantibodies in a series of Argentine FD patients. Autoantibodies against extractable nuclear antigens (ENAs), double-stranded DNA, anticardiolipin and phosphatidylserine were assayed by ELISA. Lupus anticoagulants were also tested. Fifty-seven per cent of the samples showed reactivity with at least one autoantigen. Such reactivities were more frequent among males than among females. Antiphospholipid autoantibodies were detected in 45% of our patients. The high rate of thrombosis associated with FD could be related, at least in part, to the presence of antiphospholipid autoantibodies in Fabry patients. We found the presence of ENAs, which are a characteristic finding of rheumatological diseases, previous a frequent misdiagnosis of FD, in around 39% of the cases. The detection of a high level of autoantibodies must be correlated clinically to determine the existence of an underlying autoimmune disease. With the recent development of therapy, the life expectancy in FD will increase and autoimmune diseases might play an important role in the morbidity of FD.


Systemic Lupus Erythematosus Fabry Disease Gauche Disease Lupus Anticoagulant Gaucher_s Disease 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.





double-stranded DNA


extractable nuclear antigens


Fabry disease


lupus anticoagulant




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Copyright information

© SSIEM and Springer 2007

Authors and Affiliations

  1. 1.Servicio de HematologíaHospital PennaBahía BlancaArgentina
  2. 2.LISIN, Facultad de Ciencias ExactasUniversidad Nacional de La PlataPcia de Buenos AiresArgentina

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