Surgery for acute abdomen and MEFV mutations in patients with FMF

Abstract

Objectives: Familial Mediterranean Fever (FMF) is an autosomal recessive disease characterized by recurrent fever, peritonitis, arthritis, pleuritis, and secondary amyloidosis. In the current study, we sought to determine the frequency of acute surgical abdominal intervention and MEFV gene mutations in FMF patients.

Patients and Methods: A total of 159 patients were referred to our department with a diagnosis of FME Twenty-six patients (16.4%) had a history of surgical intervention. Of these, 17 (10.7%) were operated on due to appendicitis, and 9 (5.7%) were operated on due to other acute abdomen reasons. Genomic DNA was isolated from the blood samples, and in the isolated DNA samples, 12 MEFV gene mutations were studied.

Results: Mutation frequency was detected to be 80.8% in the patients with acute abdomen surgery intervention and 56.4% in the patients without acute abdomen surgical intervention. Upon mutational evaluation of these patients, we noted that the M694V (40.5%) and E148Q (21.4%) mutations occurred most frequently.

Conclusions: The MEFV gene mutation frequency in FMF patients with acute abdomen surgical intervention was significantly higher than that in patients without such intervention. Increased mutation scanning in FMF patients will significantly decrease unnecessary surgical interventions in this patient group.