Living with Familial Mediterranean Fever (FMF): what helps you cope better?

Article title: The effects of self-efficacy in managing the disease and disease adaptation levels of Familial Mediterranean

Fever (fmf) patients on satisfaction with life: a web-based cross-sectional study

First author: Demir RN

Journal: Orphanet Journal of Rare Diseases

Link to the article: https://ojrd.biomedcentral.com/articles/10.1186/s13023-025-03931-w

Author of the abstract: Rim BOURGUIBA

Abstract

Familial Mediterranean Fever (FMF) is the most common monogenic autoinflammatory disease in the world. It is characterized by recurrent inflammatory episodes of fever, abdominal pain, chest pain, and joint pain. Treatment is based on colchicine as first-line therapy, with biotherapy sometimes necessary. In addition to medical management, patients' ability to adapt to chronic disease and their sense of self-efficacy, defined as their feeling of personal effectiveness in managing the disease, can influence their quality of life. The objective of this study was to evaluate the impact of self-efficacy in FMF management and levels of adaptation to the disease on the satisfaction/quality of life of patients with FMF.

Methods:

A cross-sectional observational study was conducted using an online questionnaire distributed on Facebook and Instagram (FMF patient groups) between February and April 2024. The authors included adult Turkish patients (≥18 years old) who had been diagnosed at least one year prior.

The assessment tools used were:

- Self-Efficacy Scale for Chronic Disease (6 items).

- Adaptation to Chronic Illness Scale (25 items: physical, psychological, and social adaptation).

- Satisfaction With Life Scale.

Results

In this study of 423 adult Turkish patients with FMF, there was a predominance of females (73.8%), with ages ranging from 32 to 45 years. A disease duration of 21 years or more was reported in 38.3% of patients. The average self-efficacy score in disease management was relatively high (4.67/10). Adaptation to the disease was moderate overall (3.10/5), with better physical adaptation (3.36), followed by psychological adaptation (2.92) and social adaptation (2.87). Life satisfaction was below average (2.68/5). The correlation study revealed positive and significant associations between self-efficacy and adaptation (r = 0.532), between self-efficacy and life satisfaction (r = 0.417), and between adaptation and life satisfaction (r = 0.564) (Table 1). Regression analysis showed that self-efficacy explained 17.4% of the variance in life satisfaction, while adaptation to the disease explained 31.8%, confirming their decisive role in the self-management of FMF on quality of life (Table 2).

Conclusion

This study shows that in patients with FMF, self-efficacy and adaptation to the disease directly influence the overall low quality of life in this population. Strengthening therapeutic education and psychosocial support appears essential to improving the quality of life of adult patients with FMF.

Table 1: Correlation study between self-efficacy and quality of life in FMF patients

Table 2: Regression analysis of self-efficacy on quality of life and disease management

Vivre avec la fièvre méditerranéenne familiale : qu’est-ce qui aide à mieux s’en sortir.pd

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Liver disease complicating Familial Mediterranean Fever: a study on 66 patients out of 533 adult from the JIR cohort

First author: M. DELPLANQUE et al,

Journal: Liver International

Link to the article: https://doi.org/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 center for adult FMF.

Methods: We conducted an observational study with FMF patients displaying 2 pathogenic MEFV mutations at the Adult National Reference Centre 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 percent 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 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.

Lay Summary

More than, 10% of FMF patients develop chronic liver abnomalities over time and 4% cirrhosis. High-risk includes those with 2 MEFV mutations and colchicine resistance and chronic liver disease often begins after age 55 in FMF patients. In FMF patient with impaired liver function optimizing treatment targeting chronic inflammation is a key point in their care.

Liver biopsy of FMF patient

a. Liver biopsy with cirrhosis (sirius red staining)

b. Same liver biopsy with steatohepatitis associating steatosis, hepatocellular ballooning and inflammation (H&E staining)

Biopsie du foie d'un patient atteint de FMF

Complications of cirrhosis in FMF patients

(A) Esophageal varices visualized by upper gastrointestinal endoscopy

(B) Hepatomegaly and ascite of a cirrhotic FMF patient detected in an abdominal CT scan

(C) Hepatomegaly and ascite of a cirrhotic FMF patient detected in an abdominal CT scan

Complications de la cirrhose chez les patients atteints de FMF

Table 1. Demographic and clinical characteristics of the enrolled cohort.

Data are presented as median [Q1-Q3]. N= number of patients

††CRP C protein reactive, BMI Body Mass Index, FMF Familial Mediterranean fever, W women, M men

Table 4. Complication and Child Pugh Score of FMF patients with cirrhosis (n=20)

Transjugular intrahepatic portosystemic shunts (TIPS)

(% among cirrhotic patients)

Liver Disease Complicating Familial Mediterranean Fever.

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Genetic and clinical features of Familial Mediterranean Fever in a cohort of patients with kidney failure

First author: Ahmed Sheyyab

Journal: Journal of Nephrology

Link to the article: doi.org/10.1007/s40620-025-02272-y

Author of the abstract: Rim BOURGUIBA

Introduction

Familial Mediterranean Fever (FMF) is the most common monogenic autoinflammatory disease worldwide. In its classic form, it is mainly associated with mutations in exon 10 of the MEFV gene. AA amyloidosis is the most severe complication of FMF.

The aim of this study was to compare the frequency of MEFV variants in hemodialysis patients versus healthy controls in a Mediterranean country, Jordan.

Methods

This was a cross‑sectional study including 78 patients with end‑stage kidney disease on hemodialysis and 201 healthy controls in Jordan. All patients underwent Sanger sequencing for the main MEFV variants. The following variants were tested: p.E148Q, p.P369S, p.F479L, p.M680I (G/C), p.M680I (G/A), p.I692del, p.M694V, p.M694I, p.K695R, p.V726A, p.A744S, and p.R761H.

Patients carrying a variant were then clinically assessed according to the Tel‑Hashomer criteria. Five underwent rectal biopsy to detect amyloidosis.

Results

Among dialysis patients, 16% had at least one MEFV variant versus 12.9% in the control group (not significant). The two most frequent mutations in the hemodialysis group were M694V (p = 0.035) and V726A (p = 0.009). The variants detected in both groups are summarized in Table 1. In the control group without renal failure, 22 individuals were heterozygous for the E148Q variant. Three patients met diagnostic criteria for FMF, and one case of AA amyloidosis was confirmed by biopsy.

Conclusion

FMF is the most common autoinflammatory disease in Mediterranean countries, yet it remains underdiagnosed even in high‑risk populations. This diagnostic delay leads to complications, notably AA amyloidosis. This study shows that 4% of hemodialysis patients were diagnosed with FMF. It also confirms the non‑pathogenic nature of the E148Q variant, which was detected in 22 healthy, asymptomatic individuals.

Overall, these findings underscore the importance of testing for MEFV mutations in patients with AA amyloidosis in countries where FMF is highly prevalent, in order to offer appropriate treatment to prevent AA amyloidosis and progression to renal failure.

Genetic and clinical features of familial Mediterranean fever in a cohort of patients with.

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