March 3, 2026Open Access

Impact of MEFV gene variants on clinical presentation in Familial Mediterranean Fever: A focus on Exon 2 mutations

Key Points

Atypical clinical presentations in familial Mediterranean fever are linked to exon 2 mutations.
Arthralgia and myalgia are common indicators associated with exon 2 variants.
The analysis highlights the importance of family history and symptom onset age in variant identification.
Personalized clinical approaches may be necessary for effective management of familial Mediterranean fever.

Abstract

Exon 2 mutations are associated with atypical presentations in FMF. Arthralgia and myalgia presentations are mostly indicative of Exon 2 variant, while a family history and earlier age of symptom onset are characteristic of Exon 10 variant. Clinicians should recognize the complex nature of FMF and adopt a personalized approach.

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Discussion

Authors

Bilal Kulaksiz

Beste Acar

Oguzhan Omer Kizilkaya

Journals

Reumatología Clínica (English Edition)

Actions

Institutions

Istanbul University

Istanbul University-Cerrahpaşa

References and Citations

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Building similarity graph...

Analyzing shared references across papers

Impact of MEFV gene variants on clinical presentation in Familial Mediterranean Fever: A focus on Exon 2 mutations

Key Points

Abstract

Citation Network

Connected Papers

Discussion

Authors

Journals

Actions

Institutions

References and Citations

Citation Network

Connected Papers

Discussion

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