B. Granel, J. Serratrice, C. Dodé, G. Grateau, P. Disdier, P.-J. Weiller
Service de Médecine Interne, Assistance Publique Hôpitaux de Marseille (AP-HM), Centre Hospitalier de la Timone, Marseille, France
Familial Mediterranean Fever (FMF) and TNF-Receptor Associated Periodic Syndrome (TRAPS) are two inheritable inflammatory disorders. They share some clinical manifestations but their treatments are different. We present here the case of an overlap syndrome of FMF and TRAPS in a patient carrying a mutation in both the MEFV and TNFRSF1A genes.CASE REPORT:A 20-year-old woman of Mediterranean origin had suffered since childhood from attacks of fever and arthritis, with skin and ophthalmic manifestations. The initial diagnosis was FMF. The symptoms responded poorly to colchicine but regressed with steroids. Genetic analysis revealed a homozygous M694V mutation in MEFV and a heterozygous R92Q mutation in TNFRSF1A. We discuss the complexity of this combined FMF–TRAPS phenotype.
This case shows that mutations in MEFV and TNFRSF1A can occur together in a single patient, a condition that may modify the clinical phenotype of the inflammatory disorder and can also modify its response to treatment. It would be interesting to evaluate the role of the R92Q mutation in TNFRSF1A in patients of Mediterranean origin with FMF unresponsive to colchicine.
PMID: 17949559 [PubMed]