Rückbildung der Schwerhörigkeit bei einer Patientin mit Muckle-Wells-Syndrom unter Therapie mit Anakinra

Zusammenfassung

Das Muckle-Wells-Syndrom(MWS) ist eine Erkrankung aus der Gruppe der Cryopyrin-assoziierten periodischen Syndrome (CAPS). Vorgestellt wird ein 8-jähriges Mädchen mit MWS, bei dem neben Fieberschüben, urtikariellem Exanthem, Coxitiden, Osteitiden, beidseitiger Uveitis anterior und erhöhten laborchemischen Entzündungsparametern von C-reaktivem Protein (CRP) und Serumamyloid A (SAA) eine Schallempfindungsschwerhörigkeit beidseits bestand. Unter Therapie mit Anakinra bildete sich die klinische Symptomatik für nunmehr 2 Jahre nahezu komplett zurück. SAA und CRP blieben seit Therapiebeginn normwertig und somit langfristig das Amyloidoserisiko minimiert. Bemerkenswert ist die rasche und vollständige Rückbildung der Innenohrschwerhörigkeit. Dies wirft Fragen zur Pathophysiologie der Innenohrschwerhörigkeit bei MWS auf und unterstreicht die Vorteile einer frühen Diagnose und effektiven Therapie.

Abstract

Muckle Wells syndrome is an autoinflammatory disease in the group of cryopyrin associated periodic syndromes (CAPS). We report the case of an 8 year old girl with MWS who presented with remitting fever, urticaria, remitting coxitis, osteitis, bilateral uveitis anterior, elevated levels of C-reactive protein (CRP) and Serum amyloid A (SAA) and progressive sensoneurinal hearing loss. After starting treatment with anakinra, clinical symptoms dissolved almost completely for about two years now. CRP and SAA levels normalized quickly and sustained and as a consequence the risk of amyloidosis may be minimized. Notable is the complete recovery from sensoneurinal hearing loss merely two months after start of treatment. This brings up questions about pathophysiology of sensoneurinal hearing loss in MWS and emphasizes the benefits of an early diagnosis, as an early start of treatment possibly reduces long-term damage.

Muckle-Wells-Syndrom - Anakinra - Innenohrschwerhörigkeit - periodische Fiebersyndrome

Muckle-Wells syndrome - Anakinra - sensoneurinal hearing loss - periodic fever syndromes

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