Background/Purpose: Familial Mediterranean fever (FMF) is the most common monogenic autoinflammatory disease, associated with MEFV gene mutations. FMF patients can experience liver involvement, potentially leading to cirrhosis but its pathogenesis and presentation are yet poorly understood. The score of steatosis in patients with FMF and hepatic cytolysis did not seem associated with the usual metabolic risk factors. The cumulated dose of colchicine was not associated with score of non-invasive method to estimate hepatic steatosis, necrosis, inflammation and fibrosis. 

This study aimed to evaluate and describe chronic liver involvement in FMF patients at a French tertiary center for adult FMF.

Methods: We conducted an observational study with FMF patients at the Adult National Reference Centre for Autoinflammatory Diseases and Inflammatory Amyloidosis (CEREMAIA) in Paris. Heterozygous patients and those with other causes of liver disease were excluded.

Results: Among 533 patients, 10.7% had chronic liver abnormalities, with 30% who developed cirrhosis, typically 47 years after FMF onset. Colchicine was widely used, but 42% were resistant, and 40% received interleukin-1 inhibitors. Active FMF with elevated CRP was present in 35 patients with liver abnormalities. Cirrhotic patients experienced delayed hepatopathy diagnosis, prolonged FMF delay of diagnosis, and delayed treatment initiation compared to those with only liver function test abnormalities. Colchicine resistance and interleukin-1 inhibitor use were more common in cirrhotic patients. BMI and AA amyloidosis rates did not differ significantly between groups. Liver biopsy in 13 cirrhotic patients revealed steatohepatitis in 8 cases and probable steatohepatitis in 2. Other lesions, like iron overload and sinusoidal dilatation, were sporadically observed.

Conclusion: FMF patients are at risk of chronic hepatopathy, especially elderly patients bearing 2 pathogenic MEFV mutations in exon10. This complication should be considered and sought because of its frequency in FMF patients, but also because of its morbidity with the risk of progression to cirrhosis and death. Chronic inflammation and therefore uncontrolled FMF seemed to be serious candidates in the natural history of this complication. Liver function should be carefully monitored in all patients with FMF
Abnormalities should prompt the hepatologist and rheumatologist to work together to find a balance in treatment to control inflammation and prevent cirrhosis.

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ACR Meeting Abstracts - https://acrabstracts.org/abstract/liver-disease-complicating-familial-mediterranean-fever-a-study-on-57-patients-from-the-french-adult-jir-cohort/