Work

OP–133 Not all mutations are equal: distinct clinical manifestations across fmf genotypes in azerbaijani pediatric patients

Year: 2026

Type: conference-paper

Abstract: Aim Familial Mediterranean Fever (FMF) is an autosomal recessive autoinflammatory disease caused by MEFV gene mutations. The relationship between clinical severity and MEFV genotype across different zygosity states of the M694V mutation remains an important area of investigation. This study compared the clinical phenotype and treatment response of pediatric FMF patients from Azerbaijan across three genotype groups: M694V homozygous, M694V heterozygous, and other exon mutation carriers.Material and Method A total of 350 children followed at pediatric centers in Azerbaijan (November 2023–2025) were retrospectively analyzed and classified into three groups: M694V homozygous (n=59), M694V heterozygous/compound heterozygous (n=115), and other exon mutations (n=176). Inclusion criteria required age ≤18 years, FMF diagnosis per Yalcinkaya-Ozen/Tel-Hashomer or Eurofever/PRINTO criteria, and at least 6 months of follow-up. Symptom profiles, attack duration, and colchicine response were compared between groups.Results The cohort comprised 350 patients (60.45% boys), with median age at symptom onset and diagnosis of 4 and 7 years, respectively. M694V homozygous patients showed the most severe phenotype: fever (86.4%), abdominal pain (78.0%), arthritis (25.4%), and arthralgia (27.1%). In the heterozygous group, fever and abdominal pain were observed in 77.4% and 67.8%, with arthritis dropping to 10.4%. Patients with other exon mutations had a milder overall phenotype, though arthralgia (19.9%) and arthritis (18.2%) were comparatively frequent. Attack duration was predominantly 1–3 days across all groups. Colchicine response was excellent: 98.2%, 97.3%, and 96.9% in homozygous, heterozygous, and other exon mutation groups, respectively. No amyloidosis was detected in any group. The clinical features and treatment outcomes across the three MEFV genotype groups are summarized in table 1.Conclusion M694V homozygous patients displayed the most severe clinical phenotype, with higher rates of fever, abdominal pain, and musculoskeletal involvement. Colchicine response was excellent across all genotype groups. These findings support the value of genotype-phenotype correlations in clinical decision-making and genetic counseling for pediatric FMF patients.Abstract OP–133 Table 1Clinical features and treatment outcomes by MEFV genotype group in pediatric FMF patientsFeatureM694V Homozygous (n=59)M694V Heterozygous (n=115)Other Exon Mutations (n=176)Fever86.4%77.4%74.4%Abdominal pain78.0%67.8%62.5%Arthritis25.4%10.4%18.2%Arthralgia27.1%14.8%19.9%Chest pain5.1%10.4%4.0%ELE6.8%1.7%2.3%Vomiting10.2%5.2%8.0%Attack duration (most common)1–3 days1–3 days1–3 daysColchicine response98.2%97.3%96.9%Amyloidosis0%0%0%

Source: BMJ Paediatrics Open

DOI: 10.1136/bmjpo-2026-epa-unepsa.131

Authors: Şeyma Şimşirgil Kara, Elife Çapan, Vafa Guliyeva

Institutions: Sinop University, Dr Lütfi Kırdar Kartal Eğitim ve Araştırma Hastanesi

Language: English

Topic: Inflammasome and immune disorders

Subfield: Molecular Biology

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: diamond

OpenAlex ID: W7225328541