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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
1Sorbonne Université, Service Médecine Interne, Centre de référence des maladies autoinflammatoires et des amyloses (CEREMAIA), Assistance Publique des hôpitaux de Paris, Hôpital Tenon, Paris, France.
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.
Insights
Familial Mediterranean fever (FMF) patients face chronic liver disease risks. Regular monitoring is vital to prevent progression to cirrhosis and associated complications.
Area of Science:
- Rheumatology
- Hepatology
- Genetics
Background:
- Familial Mediterranean fever (FMF) is a common monogenic autoinflammatory disease linked to MEFV mutations.
- FMF can manifest with liver involvement, potentially progressing to cirrhosis.
Purpose of the Study:
- To assess liver disease prevalence and characteristics in adult FMF patients.
- Evaluate risk factors and outcomes of liver involvement in FMF.
Main Methods:
- Observational study of 533 FMF patients with two pathogenic MEFV mutations.
- Exclusion of heterozygous patients and those with other liver disease causes.
Main Results:
- 12.4% of FMF patients had chronic liver abnormalities; 30% of these developed cirrhosis.
- Cirrhotic patients showed delayed diagnosis and treatment initiation.
- Steatohepatitis was a common finding in liver biopsies.
Conclusions:
- FMF patients are susceptible to chronic liver disease and cirrhosis.
- Routine liver function monitoring is essential for early detection and management.
- Prompt treatment initiation is crucial to mitigate liver disease progression.
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