Autoimmunity secondary to chronic immunostimulation by glucocerebrosides has been reported in Gaucher disease, as well as in Anderson Fabry disease (AFD) by others and us.

AIMS: To get further insight on this association, we looked for antinuclear and antiphospholipid-related autoantibodies in a series of AFD Argentine patients.

METHODS/PATIENTS: 35 patients, 16 hemizygous and 19 heterozygous from 4 families, were studied for: 1) autoantibodies to extractable nuclear antigens (ENAs): (SSA/RO, SSB/La, Sm/RNP, and Jo-1); 2) anti-double stranded DNA (dsDNA), and 3) antiphospholipid antibodies: lupus anticoagulant (LA), anticardiolipin antibodies (ACA), and antiphosphatidylserine antibodies, (APA).

RESULTS: At least one autoantibody was detected in 18 patients (51.4%). They were more frequent found in hemizygous (68.8%) than in heterozygous (42.1%). Elevated titers of ENAs were seen in 11.4% (n=4). Positive for LA were 34.3% (n=12) and for ACA 14.3% (n=5). Three patients shared two autoimmune markers. Anti dsDNA and APA were never present.


  1. There was an unexpected high incidence of autoimmune responses: one every two AFD patients showed at least one autoantibody;

  2. They were more frequent in hemizygous than in heterozygous cases.

  3. The pathologic implications of their presence is still not known, although it is probable that antiphospholipid antibodies contribute to hypercoagulability in AFD.

Autoimmunity seems to play an important role in some pathogenic disturbances seen in other lysosomal storage diseases. So, humoral/clinical correlations should be followed closely to detect the eventual outcome of collagen diseases or other clinical manifestations of autoimmunity in AFD.

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