Familiäres Mittelmeerfieber- aktuelle Empfehlungen zu Diagnostik und Therapie gemäß der EULAR- und SHARE-Initiativen

Zusammenfassung

Die Diagnose des Familiären Mittelmeerfiebers (FMF) wird anhand der Klinik gestellt. Seit der Entdeckung des MEFV-Gen (MEditerranean FeVer) kann eine genetische Untersuchung die Diagnostik ergänzen, wobei die Interpretation des genetischen Befunds oftmals eine Herausforderung darstellt. Darüberhinaus wurden Fragen zur Dosierung des Colchizins, zum Management von Nebenwirkungen, zum Einsatz unter speziellen Bedingungen und zur Definition eines Therapieversagens in der Vergangenheit häufig wenig klar formuliert. Im folgenden Artikel werden daher aktuelle Empfehlungen von Konsensusprozessen der SHARE-Initiative aus dem Jahr 2015 und der EULAR-Initiative aus dem Jahr 2016 zum Management des FMF präsentiert und erläutert, die den aktuellen Kenntnisstand bei der Erkrankung widerspiegeln und helfen die Versorgung der Patienten zu vereinheitlichen und zu verbessern.

Abstract

The diagnosis of Familial Mediterranean Fever (FMF) is based on clinical findings. Since the discovery of the MEFV-gene (MEditerranean FeVer), a genetic test can aid the diagnostic process, but the interpretation of the genetic findings can be difficult. Furthermore, questions regarding the dose of colchicine, the management of side-effects, application under special circumstances and the definition of treatment failure were often not clearly expressed in the past. The article at hand presents and explains the latest recommendations resulting from consensus procedures of the SHARE initiative from the year 2015 and the EULAR initiative from the year 2016 regarding the management of FMF, which reflect the latest state of scientific knowledge and may help to standardise and improve patient care.

Schlüsselwörter

Familiäres Mittelmeerfieber (FMF) - MEFV-Gen - Colchizintherapie

Key words

familial mediterranean fever (FMF) - MEFV-gene - colchicine therapy

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