Das Schnitzler-Syndrom – eine seltene Differenzialdiagnose und interdisziplinäre Herausforderung

Zusammenfassung

Das seltene Schnitzler-Syndrom gehört zu den systemischen autoinflammatorischen Erkrankungen mit polygenetischem, multifaktoriellem Hintergrund. Die Pathophysiologie dieser Erkrankung ist weitgehend ungeklärt, die inflammasom-assoziierten Zytokine der IL-1-Familie spielen jedoch eine Schlüsselrolle. Im Gegensatz zu monogenetischen autoinflammatorischen Erkrankungen mit Einsetzen der klinischen Symptomatik im Kindesalter liegt der Krankheitsbeginn beim Schnitzler-Syndrom erst im fortgeschrittenen Erwachsenenalter. Die Hauptdiagnosekriterien beinhalten eine Kombination aus urtikariellem Exanthem und monoklonaler Gammopathie. Klinisch äußert sich das Schnitzler-Syndrom ferner durch begleitende Gelenk-, Knochen- und Muskelschmerzen sowie Auftreten von Fieberepisoden variabler Dauer. Als Langzeitkomplikationen gelten lymphoproliferative Erkrankungen und Amyloidose. Bislang gibt es keine zugelassene Therapie für das Schnitzler-Syndrom. Antihistaminika, nicht-steroidale Antiphlogistika und Immunsuppressiva zeigen in der Regel keine oder nur unzureichende Wirksamkeit. Der Einsatz von Interleukin-1-Blockern hat sich in Fallserien und ersten klinischen Studien als effektive Therapieoption im Hinblick auf klinische Symptomatik und Rückgang von Entzündungsmarkern erwiesen.

Abstract

Schnitzler’s syndrome is a rare systemic autoinflammatory disease with a polygenic multifactorial background. Its pathophysiology is still largely unknown, but inflammasome-associated cytokines of the IL-1 family play a key role. In contrast to monogenic autoinflammatory diseases, which are characterised by disease onset in childhood, the first symptoms of Schnitzler’s syndrome usually appear in advanced adulthood. The main diagnostic criteria include a combination of urticarial exanthema and monoclonal gammopathy. In addition, Schnitzler’s syndrome is accompanied by arthralgia, bone and muscle pain as well as recurrent fever episodes of varying duration. Long-term complications include lymphoproliferative disorders and amyloidosis. There is no approved therapy for Schnitzler’s syndrome to date. Antihistamines, non-steroidal antiphlogistics and immunosuppressant agents usually have no or insufficient efficacy. The use of IL-1-blockers in numerous case reports and initial clinical trials demonstrated good effects on the reduction of clinical symptoms and inflammation markers.

Schlüsselwörter

Key words

Schnitzler’s syndrome - autoinflammation - urticaria - interleukin-1β

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