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Non-amyloid liver involvement in familial Mediterranean fever: A systematic literature review
Thibault Fraisse1, Léa Savey1, Véronique Hentgen2
1Service de médecine interne, Hôpital Tenon, APHP, Université Sorbonne, Paris, France.
Introduction:
Familial Mediterranean fever (FMF), the most frequent autoinflammatory disease, is caused by mutations in the MEFV gene. It is characterized by recurrent febrile attacks of polyserositis. Liver abnormalities may develop during its course, but they remain poorly defined.
Objective:
To describe liver involvement in FMF patients.
Methods:
A systematic search was conducted through PubMed/Medline and Embase from 1946 to January 2020. All articles describing children and adults with FMF and liver involvement were included. Patients with amyloidosis were excluded. The selected full-text articles were independently reviewed by three investigators.
Results:
Forty-three articles were identified, of which 20 articles with a total of 99 patients were included: 74 adults, 23 children and two patients of unknown age. Ten patients had cryptogenic cirrhosis, 48 had nonalcoholic fatty liver disease (NAFLD), four had Budd-Chiari syndrome (BCS), 12 had isolated hyperbilirubinaemia and 25 had elevated liver enzymes.
Conclusion:
Despite a low prevalence of metabolic risk factors, FMF may be associated with NAFLD and cryptogenic cirrhosis as a consequence of chronic or recurrent inflammation. FMF patients should be regularly screened for liver injury. The latter may be prevented and treated by daily colchicine intake. The evidence was insufficient to establish an association with BCS, hyperbilirubinaemia or autoimmune hepatitis.
Insights
Familial Mediterranean fever (FMF) is linked to liver issues like nonalcoholic fatty liver disease and cirrhosis, even without typical risk factors. Regular screening and colchicine treatment are recommended for FMF patients to manage liver health.
Area of Science:
- Autoinflammatory diseases
- Genetics
- Hepatology
Background:
- Familial Mediterranean fever (FMF) is the most common autoinflammatory disease, caused by MEFV gene mutations.
- FMF presents with recurrent febrile polyserositis, but liver involvement is not well-defined.
Purpose of the Study:
- To systematically review and describe liver involvement in patients with Familial Mediterranean fever (FMF).
Main Methods:
- A systematic literature search was performed on PubMed/Medline and Embase (1946-2020).
- Included articles described FMF patients with liver involvement, excluding those with amyloidosis.
- Data from 20 articles involving 99 patients were analyzed.
Main Results:
- The study identified 99 FMF patients with various liver conditions.
- Common findings included nonalcoholic fatty liver disease (NAFLD) in 48 patients and cryptogenic cirrhosis in 10.
- Elevated liver enzymes and isolated hyperbilirubinemia were also noted in some patients.
Conclusions:
- FMF is associated with NAFLD and cryptogenic cirrhosis, likely due to chronic inflammation.
- Regular screening for liver injury in FMF patients is advised.
- Colchicine may prevent and treat FMF-related liver disease, though evidence for other conditions like Budd-Chiari syndrome is insufficient.
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