Liver Disease Complicating Familial Mediterranean Fever: A Study on 66 Patients Out of 533 Adult From the JIR Cohort.

Pierre Bedossa, Jacques Arnaud Seyrig, Jean Michel Vignaud, Giovanna Scoazec, Jeremy Augustin, Rim Bourguiba, Zohra Aknouche, Dominique Wendum, Marion Delplanque, Christophe Duvoux, Xavier Amiot, Sophie Georgin-Lavialle, Léa Savey, Vlad Ratziu, Julien Calderaro, François Rodrigues, Lucia Parlati, Stéphane Mouly, Frederic Charlotte, Philippe Sogni, Didier Lebrec, Gilles Grateau, Benoit Terris

Journal: Liver international : official journal of the International Association for the Study of the Liver 2025;45(2):e16232

PMID: 39790043

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Abstract

BACKGROUND

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.

OBJECTIVES

This study aimed to evaluate liver involvement in FMF patients at a French tertiary centre for adult FMF.

METHODS

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.

RESULTS

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.

CONCLUSION

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.

Address: 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.; Sorbonne Université, Service d'anatomopathologie, Assistance Publique des hôpitaux de Paris Hôpital Saint Antoine, Paris, France.; Université de Paris, Service d'anatomopathologie, Assistance Publique des hôpitaux de Paris, Hôpital Cochin, Paris, France.; Service d'hépatogastroenterologie, Assistance Publique des hôpitaux de Paris, Hôpital Mondor, Créteil, France.; Université Paris Cité, Service d'anatomopathologie, Assistance Publique des hôpitaux de Paris, Hôpital Beaujon, Clichy, France.; Université Paris Cité, Service d'hépatogastroenterologie, Assistance Publique des hôpitaux de Paris, Hôpital Beaujon, Clichy, France.; Université Paris Cité, Service d'hépatogastroenterologie Assistance Publique des hôpitaux de Paris, Hôpital Cochin, Paris, France.; Sorbonne Université, Service d'anatomopathologie, Assistance Publique des hôpitaux de Paris, Hôpital Pitié Salpêtrière, Paris, France.; Sorbonne Université, Service d'hépatogastroenterologie, Assistance Publique des hôpitaux de Paris, Hôpital Pitié Salpêtrière, Paris, France.; Université Paris Cité, DMU INVICTUS, Département de Médecine Interne, Assistance Publique des hôpitaux de Paris, Hôpital Lariboisière, Paris, France.; Service d'anatomopathologie, Assistance Publique des hôpitaux de Paris, Hôpital Mondor, Créteil, France.; Service d'anatomopathologie, CHU Nancy, Nancy, France.; Service d'hépatogastroenterologie, CH Pontivy, Pontivy, France.

DOI: 10.1111/liv.16232

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MeSH Terms: Humans, Familial Mediterranean Fever, Female, Male, Middle Aged, Adult, Colchicine, Liver Cirrhosis, Pyrin, Mutation, Paris, Liver