Massaro Maria Grazia, Pompili Maurizio, Sicignano Luca L, Pizzolante Fabrizio, Verrecchia Elena, Vecchio Fabio M, Rigante Donato, Manna Raffaele
Division of Internal Medicine, Rare Diseases and Periodic Fevers Research Centre, Fondazione Policlinico A. Gemelli IRCCS, Rome, Italy.
Università Cattolica del Sacro Cuore, Rome, Italy.
Mediterr J Hematol Infect Dis. 2020 Sep 1;12(1):e2020059. doi: 10.4084/MJHID.2020.059. eCollection 2020.
Hepatic involvement in familial Mediterranean fever (FMF) ranges from a nonspecific increase in liver enzymes to cryptogenic cirrhosis, and the liver is mostly involved in patients bearing the M694V mutation in homozygosis. A 44-year-old Jewish woman with FMF developed nonalcoholic steatohepatitis during colchicine treatment (2,5 mg per day), confirmed by both elastography and liver biopsy. Therefore, combined therapy with the interleukin-1 (IL-1) blocking agent canakinumab (150 mg every four weeks) and colchicine (at a reduced dose of 1.5 mg per day) was started. Three months later, transaminases became normal, and after further six months, there was a marked improvement of liver fibrosis. IL-1 blockade has the power to halt or mitigate liver involvement in FMF patients. However, further experience is required to assess its therapeutic potential in the most severe patients with the hepatic disease who are partially responsive to long-term prophylaxis with colchicine.
家族性地中海热(FMF)的肝脏受累范围从肝酶非特异性升高到隐源性肝硬化,且肝脏受累多见于纯合子携带M694V突变的患者。一名44岁患FMF的犹太女性在秋水仙碱治疗期间(每日2.5毫克)发生了非酒精性脂肪性肝炎,弹性成像和肝活检均证实了这一点。因此,开始使用白细胞介素-1(IL-1)阻断剂卡那单抗(每四周150毫克)和秋水仙碱(每日剂量减至1.5毫克)联合治疗。三个月后,转氨酶恢复正常,再过六个月后,肝纤维化有显著改善。IL-1阻断有能力阻止或减轻FMF患者的肝脏受累。然而,对于那些对秋水仙碱长期预防部分反应的最严重肝病患者,评估其治疗潜力还需要更多经验。