Cryopyrin-assoziierte periodische Syndrome

ZUSAMMENFASSUNG

Die Cryopyrin-assoziierten periodischen Syndrome (CAPS) umfassen ein klinisches Spektrum autoinflammatorischer Phänotypen unterschiedlicher Schweregrade. Hierzu zählen das familiäre autoinflammatorische Kälte-Syndrom (FCAS), das Muckle-Wells-Syndrom (MWS) und das chronisch infantile neurologische kutane und artikuläre Syndrom (CINCA), das auch als neonatale Multisystem-Entzündungserkrankung (NOMID) bekannt ist. Die Ursache für CAPS liegt meist in pathogenen NLRP3-Varianten, die zu erhöhter Aktivität des Inflammasoms, Überproduktion von Interleukin-1β und Entzündungen führen. Die Klinik umfasst erhöhte Entzündungsmarker, Müdigkeit, Fieber, Hautausschläge sowie Muskel-, Skelett- und ZNS-Symptome, Hörverlust und Sehstörungen. Die diagnostische Herausforderung liegt in sich überlappenden Phänotypen, somatischen Mutationen und Varianten mit geringer Ausprägung oder unklarer Bedeutung. Diagnose und Klassifikationskriterien unterstützen bei der Diagnosestellung und helfen bei der Definition von Studienkohorten. Für die wirksame Behandlung stehen biologische Therapien zur Verfügung, wovon Interleukin (IL)-1-Inhibitoren für die Behandlung zugelassen sind.

Schlüsselwörter

CAPS - CINCA - FCAS - MWS - NOMID - Anti-IL-1-Therapie - autoinflammatorische Erkrankung - Schwerhörigkeit

Publikationsverlauf

Artikel online veröffentlicht:
06. September 2023

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