Surgery for acute abdomen and MEFV mutations in patients with FMF.
OBJECTIVE
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.


METHODS
A total of 159 patients were referred to our department with a diagnosis of FMF. 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.
Samli
Hale
H
Uludag University, Department of Moleculer Biology, Bursa, Turkey. halesamli@gmail.com
Içduygu
Fadime Mutlu
FM
Ozgöz
Asuman
A
Akbulut
Gökhan
G
Hekimler
Kuyas
K
Imirzalioglu
Necat
N
D000006:Abdomen, Acute / Q000175:diagnosis / Q000209:etiology / Q000601:surgery*; D003598:Cytoskeletal Proteins / Q000235:genetics*; D010505:Familial Mediterranean Fever / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D009154:Mutation; D000071198:Pyrin
D003598:Cytoskeletal Proteins; C000604192:MEFV protein, human; D000071198:Pyrin