Prevalence of Familial Mediterranean Fever in Children with Cryptogenic Cirrhosis
Fatma İlknur Varol1, Yılmaz Tabel2, Saim Yoloğlu3
1Department of Pediatric Gastroenterology, Hepatology, and Nutrition, Faculty of Medicine, Inonu University, Malatya, Turkey.
Background:
Familial Mediterranean fever (FMF) is an autoinflammatory disease characterized by abdominal and chest pain and recurrent fever due to inflammation in the serosal membranes such as peritoneum, pleura and synovia. In FMF, recurrent inflammatory cytokine production may lead to cirrhosis. The aim of this study was to determine the prevalence of FMF in children with cryptogenic cirrhosis and it was found to be high, to add FMF among the etiological causes of cirrhosis.
Materials And Methods:
This prospective cohort study conducted at the Hospital of İnönü University, Malatya, Turkey. In this study, 44 patients diagnosed with cryptogenic cirrhosis by biopsy, in the Pediatric Gastroenterology, Hepatology and Nutrition Clinic, were included, after the other reasons that may cause chronic liver disease were excluded. MEVF gene analysis was performed for all patients with cryptogenic cirrhosis.
Results:
FMF genetic mutation was detected in 9 (20%) of 44 patients. M694V mutation was detected in one patient (2.27%) and E148Q homozygous mutation was detected in one patient (2.27%). Various other heterozygous mutations were detected in seven other patients. Homozygous and heterozygous R202Q mutations were detected in one patient.
Conclusion:
We suggest that FMF plays a role in the etiologic differential diagnosis of cryptogenic cirrhosis.
Insights
Familial Mediterranean fever (FMF) is linked to cryptogenic cirrhosis in children. This study found a high prevalence of FMF mutations in children with unexplained cirrhosis, suggesting FMF as a potential cause.
Area of Science:
- Pediatric Gastroenterology and Hepatology
- Autoinflammatory Diseases
- Genetics
Background:
- Familial Mediterranean fever (FMF) is an autoinflammatory condition causing recurrent fever and serosal membrane inflammation.
- Chronic inflammation in FMF can lead to liver damage, including cirrhosis.
- The etiological link between FMF and cryptogenic cirrhosis in children requires further investigation.
Purpose of the Study:
- To determine the prevalence of Familial Mediterranean fever (FMF) in children diagnosed with cryptogenic cirrhosis.
- To evaluate FMF as a potential etiological factor in pediatric cryptogenic cirrhosis.
Main Methods:
- A prospective cohort study included 44 children with biopsy-proven cryptogenic cirrhosis.
- Patients underwent MEVF gene analysis to detect FMF-associated mutations.
- Other causes of chronic liver disease were excluded prior to enrollment.
Main Results:
- FMF-associated genetic mutations were identified in 9 out of 44 patients (20.45%).
- Specific mutations found include M694V (2.27%), E148Q homozygous (2.27%), and R202Q (homozygous/heterozygous).
- Seven patients (15.9%) had other heterozygous mutations.
Conclusions:
- Familial Mediterranean fever should be considered in the etiological differential diagnosis of cryptogenic cirrhosis in children.
- The findings highlight a significant association between FMF and unexplained cirrhosis in the pediatric population.
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