Delplanque Marion, Amiot Xavier, Wendum Dominique, Rodrigues François, Aknouche Zohra, Bourguiba Rim, Terris Benoit, Duvoux Christophe, Bedossa Pierre, Lebrec Didier, Sogni Philippe, Parlati Lucia, Charlotte Frederic, Ratziu Vlad, Mouly Stéphane, Augustin Jeremy, Calderaro Julien, Scoazec Giovanna, Michel Vignaud Jean, Arnaud Seyrig Jacques, Grateau Gilles, Savey Léa, Georgin-Lavialle Sophie
Sorbonne Université, Service Médecine Interne, Centre de référence des maladies autoinflammatoires et des amyloses (CEREMAIA), Assistance Publique des hôpitaux de Paris, Hôpital Tenon, Paris, France.
Sorbonne Université, Service de Gastroenterologie, Assistance Publique des hôpitaux de Paris Hôpital Tenon, Paris, France.
Liver Int. 2025 Feb;45(2):e16232. doi: 10.1111/liv.16232.
Familial Mediterranean fever (FMF) is the most common monogenic autoinflammatory disease, associated with MEFV mutations. FMF patients can experience liver involvement, potentially leading to cirrhosis.
This study aimed to evaluate liver involvement in FMF patients at a French tertiary centre for adult FMF.
We conducted an observational study with FMF patients displaying 2 pathogenic MEFV mutations at the National Reference Center for Autoinflammatory Diseases and Inflammatory Amyloidosis (CEREMAIA) in Paris and included in the JIR cohort. MEFV heterozygous patients and those with other liver disease causes were excluded.
Among 533 FMF patients 12.4% had chronic liver abnormalities, with 30% who developed cirrhosis 54 years [36-57] in median after disease onset. Forty-seven per cent were colchicine resistant, and 41% received interleukin-1 inhibitors. Cirrhotic patients experienced delayed hepatopathy diagnosis, prolonged FMF diagnosis delay and late-onset treatment initiation compared to those with only liver function test abnormalities. Colchicine resistance and interleukin-1 inhibitor use were more common in cirrhotic patients. Body mass index and AA amyloidosis rates did not differ significantly between groups. Twenty-one patients had undergone liver biopsies including 14 cirrhotic patients revealing steatohepatitis in 12 cases and probable steatohepatitis in 4. Other lesions, like iron overload and sinusoidal dilatation, were sporadically observed.
FMF patients are at risk of chronic liver disease. Regular liver function monitoring is crucial, particularly in case of persistent inflammation, due to the risk of progression to cirrhosis and its associated morbidity and mortality.
家族性地中海热（FMF）是最常见的单基因自身炎症性疾病，与MEFV突变相关。FMF患者可能出现肝脏受累，有可能导致肝硬化。
本研究旨在评估法国一家成人FMF三级中心中FMF患者的肝脏受累情况。
我们在巴黎的自身炎症性疾病和炎症性淀粉样变性国家参考中心（CEREMAIA）对表现出2种致病性MEFV突变的FMF患者进行了一项观察性研究，这些患者被纳入JIR队列。排除MEFV杂合子患者和其他有肝脏疾病病因的患者。
在533例FMF患者中，12.4%有慢性肝脏异常，其中30%在疾病发作后中位54年[36 - 57年]发展为肝硬化。47%对秋水仙碱耐药，41%接受白细胞介素-1抑制剂治疗。与仅有肝功能检查异常的患者相比，肝硬化患者肝病诊断延迟，FMF诊断延迟延长且治疗开始较晚。秋水仙碱耐药和白细胞介素-1抑制剂的使用在肝硬化患者中更常见。两组间体重指数和AA淀粉样变性发生率无显著差异。21例患者接受了肝活检，其中14例肝硬化患者中，12例显示脂肪性肝炎，4例可能为脂肪性肝炎。其他病变，如铁过载和肝血窦扩张，偶有观察到。
FMF患者有患慢性肝病的风险。定期进行肝功能监测至关重要，特别是在存在持续性炎症的情况下，因为有进展为肝硬化及其相关发病率和死亡率的风险。
