Characteristics and outcomes of adult patients with familial Mediterranean fever: Comparison of patients with one versus two pathogenic exon 10 MEFV mutations.

• Tác giả: Zohra Aknouche, Achille Aouba, Samuel Ardois, Guilaine Boursier, Laurence Cuisset, Anaël Dumont, Sophie Georgin-Lavialle, Gilles Grateau, Carole Lacout, Léa Savey, Hélène Vergneault
• Ngôn ngữ: eng
• Ký hiệu phân loại: 364.131 Political offenses
• Thông tin xuất bản: France : Joint bone spine , 2025
• Bộ sưu tập: NCBI
• ID: 217937

Tóm tắt

 OBJECTIVE: To describe the main features and outcomes of a large cohort of adult familial Mediterranean fever (FMF) patients with one pathogenic MEFV mutations and compare them to FMF patients displaying 2 pathogenic MEFV mutations. METHODS: In a retrospective single-referential French center cohort of 581 patients with FMF, 178 FMF patients with one pathogenic mutation were retrieved and compared to 403 patients with 2 pathogenic MEFV mutations. The diagnosis of FMF was based on the Eurofever/PRINTO classification criteria for all patients, and they had all been sequenced for MEFV. Patients with M694V/E148Q genotype were also compared to M694V/WT patients. RESULTS: Compared to FMF patients with 2 pathogenic MEFV mutations, patients with one pathogenic mutation showed significantly higher age at diagnosis and at disease onset (25 vs 10years and 12 vs 5years, P<
 0.001, respectively), higher personal history (21% vs 5%, P<
 0.001) or familial history (13% vs 5%, P=0.001) of recurrent aphthous stomatitis (RAS) and higher body mass index (BMI) (24 vs 23kg/m CONCLUSION: Adult FMF patients with a single pathogenic MEFV mutation display specific clinical features as well as different evolution compared to patients with 2 pathogenic MEFV mutations.