March 3, 2026Open Access

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

Puntos clave

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.

Resumen

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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Cite This Study

Kulaksiz et al. (Thu,) studied this question.

synapsesocial.com/papers/69a75f01c6e9836116a2a10e https://doi.org/https://doi.org/10.1016/j.reumae.2026.502040

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