Persistent Fever as the Solitary Manifestation of Familial Mediterranean Fever: A Case Report

Résumé fourni par la source

Familial Mediterranean fever (FMF) is an autoinflammatory genetic disorder characterized by prolonged periods of fever and serosal inflammation such as peritonitis, pleuritis, and arthritis. FMF is due to a mutation of the MEFV gene encoding pyrin. Although this disorder typically presents in early childhood with recurrent episodes that are self-limiting, atypical and long-lasting febrile episodes may cause significant diagnostic challenges, especially in regions where genetic testing for FMF is not easily available. In this study, we report a case of a four-year-old Syrian girl who presented with persistent fever unresponsive to antipyretics lasting for one month. With the high clinical suspicion, colchicine therapy was initiated, resulting in clinical improvement. This case illustrates the importance of maintaining clinical suspicion of FMF in the pediatric population presenting with persistent fever of unknown origin, and sheds light on the role of colchicine as a therapeutic and diagnostic medication when genetic testing is unavailable.

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