ArticleMediterranean journal of rheumatology2023
Genotype Mutations in Palestinian Children with Familial Mediterranean Fever: Clinical Profile, and Response to Colchicine Treatment: A Retrospective Cohort Study.
Article in Mediterranean journal of rheumatology, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
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3 citing papers in PubMed, 2 citations in OpenAlex.
- Clinico-demographic and molecular characteristics of familial Mediterranean fever in Egypt: a multicenter study.Scientific reports · 2026Article
- [Colchicine-Phoenix from the ashes].Wiener klinische Wochenschrift · 2025Review
- Pediatric COPA Syndrome Overlapping With Heterozygous Familial Mediterranean Fever: A Dual Inflammatory Disorder.Case reports in pediatrics · 2025Article
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Authors and funding
6 authors at 4 institutions in 3 countries.
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Abstract
Background: Familial Mediterranean fever is a hereditary autoinflammatory disease affecting mainly Arabs, Turks, Armenians, and Jews with genotype-phenotype heterogeneity, presenting as recurrent episodes of fever along with polyserositis and rash. To date, more than 370 mutations in the Methods: We conducted a retrospective cohort study involving 124 patients in Hebron, Palestine, diagnosed with FMF at the Al-Ahli, and Palestinian Red Crescent Society (PRCS) Hospitals. Results: The median age of diagnosis was five years, presenting as abdominal pain (76.6%), fever (67.7%), joint pain and arthritis. Regarding Conclusions: We affirm in this study of 124 children with FMF, abdominal pain, followed by fever, joint pain and arthritis were the main manifestations. Further, M694V, E148Q, V726A, A744S, and R202Q were the most frequent mutations, and carrying the M649V mutations is associated with a predisposition to other comorbidities. We believe that this study gives a pervasive overview of FMF in Palestinian patients. Looking forward, future studies on a larger number of patients could precisely highlight the genotype-phenotype association among FMF patients.
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