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

Marion Delplanque¹, Xavier Amiot², Dominique Wendum³, François Rodrigues¹, Zohra Aknouche¹, Rim Bourguiba¹, Benoit Terris⁴, Christophe Duvoux⁵, Pierre Bedossa⁶, Didier Lebrec⁷, Philippe Sogni⁸, Lucia Parlati⁸, Frederic Charlotte⁹, Vlad Ratziu¹⁰, Stéphane Mouly¹¹, Jeremy Augustin¹², Julien Calderaro¹², Giovanna Scoazec⁵, Jean Michel Vignaud¹³, Jacques Arnaud Seyrig¹⁴, Gilles Grateau¹, Léa Savey¹, Sophie Georgin-Lavialle¹

Affiliations

¹ 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.
² Sorbonne Université, Service de Gastroenterologie, Assistance Publique des hôpitaux de Paris Hôpital Tenon, Paris, France.
³ Sorbonne Université, Service d'anatomopathologie, Assistance Publique des hôpitaux de Paris Hôpital Saint Antoine, Paris, France.
⁴ Université de Paris, Service d'anatomopathologie, Assistance Publique des hôpitaux de Paris, Hôpital Cochin, Paris, France.
⁵ Service d'hépatogastroenterologie, Assistance Publique des hôpitaux de Paris, Hôpital Mondor, Créteil, France.
⁶ Université Paris Cité, Service d'anatomopathologie, Assistance Publique des hôpitaux de Paris, Hôpital Beaujon, Clichy, France.
⁷ Université Paris Cité, Service d'hépatogastroenterologie, Assistance Publique des hôpitaux de Paris, Hôpital Beaujon, Clichy, France.
⁸ Université Paris Cité, Service d'hépatogastroenterologie Assistance Publique des hôpitaux de Paris, Hôpital Cochin, Paris, France.
⁹ Sorbonne Université, Service d'anatomopathologie, Assistance Publique des hôpitaux de Paris, Hôpital Pitié Salpêtrière, Paris, France.
¹⁰ Sorbonne Université, Service d'hépatogastroenterologie, Assistance Publique des hôpitaux de Paris, Hôpital Pitié Salpêtrière, Paris, France.
¹¹ Université Paris Cité, DMU INVICTUS, Département de Médecine Interne, Assistance Publique des hôpitaux de Paris, Hôpital Lariboisière, Paris, France.
¹² Service d'anatomopathologie, Assistance Publique des hôpitaux de Paris, Hôpital Mondor, Créteil, France.
¹³ Service d'anatomopathologie, CHU Nancy, Nancy, France.
¹⁴ Service d'hépatogastroenterologie, CH Pontivy, Pontivy, France.

PMID: 39790043
DOI: 10.1111/liv.16232

Observational Study

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

Marion Delplanque et al. Liver Int. 2025 Feb.

. 2025 Feb;45(2):e16232.

doi: 10.1111/liv.16232.

Authors

Affiliations

¹ 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.
² Sorbonne Université, Service de Gastroenterologie, Assistance Publique des hôpitaux de Paris Hôpital Tenon, Paris, France.
³ Sorbonne Université, Service d'anatomopathologie, Assistance Publique des hôpitaux de Paris Hôpital Saint Antoine, Paris, France.
⁴ Université de Paris, Service d'anatomopathologie, Assistance Publique des hôpitaux de Paris, Hôpital Cochin, Paris, France.
⁵ Service d'hépatogastroenterologie, Assistance Publique des hôpitaux de Paris, Hôpital Mondor, Créteil, France.
⁶ Université Paris Cité, Service d'anatomopathologie, Assistance Publique des hôpitaux de Paris, Hôpital Beaujon, Clichy, France.
⁷ Université Paris Cité, Service d'hépatogastroenterologie, Assistance Publique des hôpitaux de Paris, Hôpital Beaujon, Clichy, France.
⁸ Université Paris Cité, Service d'hépatogastroenterologie Assistance Publique des hôpitaux de Paris, Hôpital Cochin, Paris, France.
⁹ Sorbonne Université, Service d'anatomopathologie, Assistance Publique des hôpitaux de Paris, Hôpital Pitié Salpêtrière, Paris, France.
¹⁰ Sorbonne Université, Service d'hépatogastroenterologie, Assistance Publique des hôpitaux de Paris, Hôpital Pitié Salpêtrière, Paris, France.
¹¹ Université Paris Cité, DMU INVICTUS, Département de Médecine Interne, Assistance Publique des hôpitaux de Paris, Hôpital Lariboisière, Paris, France.
¹² Service d'anatomopathologie, Assistance Publique des hôpitaux de Paris, Hôpital Mondor, Créteil, France.
¹³ Service d'anatomopathologie, CHU Nancy, Nancy, France.
¹⁴ Service d'hépatogastroenterologie, CH Pontivy, Pontivy, France.

PMID: 39790043
DOI: 10.1111/liv.16232

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.

Keywords: cirrhosis; colchicine; cytolysis; familial Mediterranean fever; hepatopathy; interleukin 1 inhibitors.

PubMed Disclaimer

References

1. S. Georgin‐Lavialle, V. Hentgen, K. Stankovic Stojanovic, et al., “Familial Mediterranean Fever,” La Revue de medecine interne 39, no. 4 (2018): 240–255.
1. S. Ozen, E. Demirkaya, B. Erer, et al., “EULAR Recommendations for the Management of Familial Mediterranean Fever,” Annals of the Rheumatic Diseases 75, no. 4 (2016): 644–651.
1. T. Fraisse, L. Savey, V. Hentgen, et al., “Non‐amyloid Liver Involvement in Familial Mediterranean Fever: A Systematic Literature Review,” Liver International: Official Journal of the International Association for the Study of the Liver 40, no. 6 (2020): 1269–1277.
1. P. Ginès, A. Krag, J. G. Abraldes, E. Solà, N. Fabrellas, and P. S. Kamath, “Liver Cirrhosis,” Lancet 398, no. 10308 (2021): 1359–1376.
1. D. Rimar, I. Rosner, M. Rozenbaum, and E. Zuckerman, “Familial Mediterranean Fever: An Association With Non‐alcoholic Fatty Liver Disease,” Clinical Rheumatology 30, no. 7 (2011): 987–991.

Publication types

Actions

MeSH terms

Actions
Actions
Actions
Actions
Actions
Actions
Actions
Actions
Actions
Actions
Actions
Actions
Actions

Substances

Actions
Actions
Actions

LinkOut - more resources

Full Text Sources
- Ovid Technologies, Inc.
- Wiley
Medical
- MedlinePlus Health Information

Save citation to file

Email citation

Add to Collections

Add to My Bibliography

Your saved search

Create a file for external citation management software

Your RSS Feed

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

Affiliations

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

Authors

Affiliations

Abstract

References

Publication types

MeSH terms

Substances

LinkOut - more resources

Full Text Sources

Medical