Epidemiologic, Clinical and Genetic Characteristics of Familial Mediterranean Fever in Egyptian Children’s Tertiary Care Center

Authors

• Ghada Ahmed Elsayed Mgahed, M.B. B.Ch. M.Sc, EgyptFollow
• Mayada Sabry Zeid, Pediatrics Department, Mansoura Faculty of Medicine, Egypt
• Ali Sobh, Pediatrics Department, Mansoura Faculty of Medicine, Egypt
• Shaltout A, Pediatrics Department, Mansoura Faculty of Medicine, Egypt

Subject Area

Pediatric Surgery

Article Type

Original Study

Abstract

Background: Familial Mediterranean fever (FMF) is an inherited disorder known by recurrent, brief, and self-limiting episodes of fever and serosal inflammation. It is primarily defined by acute inflammatory involvement of serosal membranes, including the pleura, peritoneum, and/or synovial tissues, typically associated by fever. This inflammatory cascade is inherently self-propagating and, if inadequately controlled, may lead to recurrent episodes or sustained inflammatory activity.

Aim of the work: To examine the clinical and demographic characteristics of individuals with childhood- initiation FMF, to determine the prevalence of the most frequent mutations in the FMF-linked gene within this population, and to assess the potential correlation between genotypic variations and phenotypic expression.

Patients and methods: This study included 250 participants 128 males and 122 females with median age 9 years ranging from 3 years to18 years of FMF who were recruited from tropical and infectious disease department and outpatient clinic at MUCH .All patients are subjected to detailed medical history , history of disease , clinical manifestation , therapeutic history and colchicine efficacy , intensity of disease , triggers of attacks and laboratory tests as CBC, CRP , ESR , SAA, urine analysis, LFT, serum creatinine and Real time PCR for MEFV gene mutation.

Results: Positive family record was detected among 49.2% and positive consanguinity was detected among 24.4%. Colchicine efficacy was assessed among 243 cases who received colchicine with the following distribution; 29 cases no response, 52 cases incomplete and 162 cases complete response. Positive gene mutation was reported in 80% of the cases. Heterozygous gene mutation was reported in 76.8% while homozygous gene mutation was reported in 3.2%. Gene mutation was linked with higher attacks frequency with 12.2% of cases with mutation had more than 3 attacks per month versus 2.1% of cases without mutation.

Conclusion: FMF is linked with gene mutation mainly the heterozygous form. The existence of gene mutation is linked with more marked form of the disease. As regard genotype phenotype correlation, the most severe genotype is M694V followed by M694I and M680I. Although genotypes V726A and E148Q are frequent but they are a mild pathogenic variant.

Recommended Citation

Mgahed, Ghada Ahmed Elsayed; Zeid, Mayada Sabry; Sobh, Ali; and A, Shaltout (2026) "Epidemiologic, Clinical and Genetic Characteristics of Familial Mediterranean Fever in Egyptian Children’s Tertiary Care Center," Mansoura Medical Journal: Vol. 55 : Iss. 6 , Article 14.
Available at: https://doi.org/10.58775/2735-3990.1582

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