Aim:
Background: Familial Mediterranean fever (FMF) in Kurdish children is understudied, especially regarding the effect of high parental consanguinity on genetics and disease severity. Objective: To describe the clinical picture, laboratory findings, and MEFV mutation profile of FMF children in Duhok, Iraq, and to examine the influence of consanguinity on genotype‑phenotype relationships.

Material and methods:
Methods: Cross‑sectional study (Jan 2017‑Jan 2025) of 92 children ≤16 years meeting Tel‑Hashomer criteria and with molecularly confirmed MEFV mutations. Data on demographics, family history, consanguinity, symptoms, attack characteristics, acute‑phase reactants, genotype, colchicine response, and complications were collected retrospectively and prospectively. Analyses used SPSS v27 (chi‑square, t‑test, logistic regression; P<0.05.

Results:
Results: Mean age 8 y; 65% male; parental consanguinity 79%; positive family history 63%. Fever (100%) and abdominal pain 85% were universal; arthritis 46.7% and growth retardation 61% were notably high. Mean attack labs: WBC 12.9 × 10⁹/L, ESR 50 mm/h, CRP 63 mg/L. MEFV alleles: E148Q 38%, M694V (22%), V726A (15%), M680I (12%). Exon‑10 homo/compound heterozygotes (M694V/M680I) were linked to earlier onset, more frequent/longer attacks and higher ESR/CRP (OR≈3, p<0.001); simple E148Q carriers had milder disease. Colchicine was effective in 94.6% of patients; no amyloidosis was observed. Consanguinity independently predicted the presence of two pathogenic exon‑10 alleles p=0.02.

Conclusions:
Conclusion: Duhok’s pediatric FMF cohort shows classic fever/serositis but higher arthritis, growth failure, and an unusual predominance of the low‑penetrance E148Q mutation, likely driven by extreme consanguinity. Exon‑10 mutations confer a severe phenotype, while colchicine remains highly effective. Targeted genetic counseling and early mutation‑guided management are warranted in this high‑consanguinity population.