Inflammatory biomarker analysis confirms reduced disease severity in heterozygous patients with familial Mediterranean fever.

doi:10.1136/rmdopen-2024-004677

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Inflammatory biomarker analysis confirms reduced disease severity in heterozygous patients with familial Mediterranean fever.

RMD open - 24 Nov 2024

Elhani Inès, Backes Stefan, Kallinich Tilmann, Amaryan Gayane, Belot Alexandre, Berendes Rainer, Berger Thomas, Dressler Frank, Foell Dirk, Fühner Sabrina, Giese Arnd, Hinze Claas, Hitzegrad Anna Lisa, Horneff Gerd, Jansson Annette, Klotsche Jens, Lainka Elke, Niehues Tim, Oommen Prasad, Haas Johannes-Peter, Rietschel Christoph, Theodoropoulo Katerina, Vinit Caroline, Weissbarth-Riedel Elisabeth, Hentgen Véronique, Wittkowski Helmut

Abstract excerpt

INTRODUCTION: Familial Mediterranean fever (FMF) is a genetic disease leading to recurrent episodes of inflammation. Two pathogenic variants are required for classical disease, but the disease can occur in heterozygous patients. Patients are treated continuously with colchicine to prevent amyloid A (AA) amyloidosis, including heterozygous patients who display a moderate form of FMF and rarely develop AA...

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PMID: 39581688
DOI: 10.1136/rmdopen-2024-004677
PMCID: PMC11590780

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