MEFV Mutations And Clinical Findings in Patient With Familial Mediteranean Fever: The Emergency Department Experiences

INTRODUCTION: We examined emergency department utilization patterns by identifying the characteristics of FMF cases in the emergency department and analyzing the relationship between genotype-related characteristics and clinical findings.
METHODS: One hundred and thirty-five patients with FMF were evaluated. The present study included adult Turkish patients (≥18 years old) who had been diagnosed according to the Tel Hashomer and Livneh criteria. A comprehensive data set encompassing demographic and clinical information was meticulously compiled for the entire patient cohort from the clinic's database and medical records.
RESULTS: A total of 135 patients (81 [60%] female/54 [40%] male) with FMF were included to study. The mean age was 28.19±9.71 years and the disease duration was 6.62±5.38 years. The most common allele freuquency was identified as M694V, present in 36 (26.5%) patients. The other mutations were listed as R202Q (14%), M680I (5.9%), E148Q (8.4%) and V726A (12.5%) respectively. While patients with M694V gene mutations have more severe clinical symptoms (constipation, fatigue, erysipelas-like erythema, scrotal pain, appendicitis surgery), E148Q and V726A gene mutations shows milder clinical symptoms. A correlation was identified between M694V and appendectomy, arthritis/arthralgia, and constipation.
DISCUSSION AND CONCLUSION: Abdominal pain and fever was the most frequent symptom. M694V, E148Q, R202Q, M680I, and V726A were the most common mutations in FMF patients. Appendectomy, arthritis/ arthralgia and constipation were significantly correlate in patients with M694V mutations.

Keywords: emergency, familial mediterranean fever, genetic mutation, clinical symptoms