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Schnitzler Syndrome: an Acquired Autoinflammatory Disorder
Heleen D. de Koning1, Anna Simon1, Evelien J. Bodar1, and Jos W M. van der Meer1
1Dept. of General Internal Medicine, Radboud University Medical Centre Nijmegen, the Netherlands, 6500 HB
Schnitzler syndrome is a rare disorder characterised by urticarial rash, periodic fever, arthralgia or arthritis, and bone pain, accompanied by a monoclonal gammopathy. We reviewed 80 cases published in literature and seen in our own clinic and retrieved follow-up data from 40 of them.
The mean age of onset is 52 years. All patients suffer from episodes of seemingly unprovoked urticarial rash, in more than 80% of cases accompanied by intermittent fever and in more than 60% by arthralgia. The frequency of attacks ranges from daily to twice a year. Bone pain is reported in half of the cases. In all cases a monoclonal gammopathy is found, mostly of IgM type, sometimes IgG.
The pathophysiology is still unknown; autoantibodies or antigen-specific T-cells are lacking. No mutation in the cryopyrin gene exon 3 was found in two of our patients.
Schnitzler syndrome follows a chronic, relapsing course, and no spontaneous complete remissions have been reported. Ten out of the 80 cases have developed Waldenström’s macroglobulinemia.
Many different treatments, including antihistamines and NSAIDs, have proved ineffective. Serious side effects limited the use of high-dose corticoids and thalidomide. Recently, however, we have reported rapid remission with the use of interleukin-1 receptor antagonist (anakinra) in three patients (Ann Rheum Dis online first 11 August 2005 doi:10.1136/ard.2005.045245).
Conclusion: Schnitzler syndrome is an acquired disorder with clear resemblance to cryopyrin-associated periodic syndromes, including a phenotype of urticaria, periodic fever and arthralgia, and a dramatic response to IL-1ra treatment. In view of this phenotype and the lack of high-titer autoantibodies or antigen-specific T-cells, we propose that Schnitzler syndrome should be incorporated in the group of systemic autoinflammatory syndromes.
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