Çukurova Üniversitesi Tıp Fakültesi Dergisi (Aug 2014)
Distribution of Familial Mediterranean Fever mutations in surgical emergencies including nonspecific abdominal pain: Surgical point of view
Abstract
Purpose : Familial Mediterranean fever (FMF) is characterized by recurrent episodes of fever and serositis, resulting in pain in the abdomen, chest, joints and muscles. While patients diagnosed with FMF are under follow-up of the internal medicine doctors, surgeons are rarely responsible the initial diagnosis of FMF. We aimed to investigate the frequency of the FMF in the surgical emergency in those with acute nonspecific abdominal pain. Material and Methods: All patients admitted to emergency service due to acute abdominal pain were evaluated and those resulted with nonspecific pain were enrolled. During six months period, patients consistent with above criteria were examined with abdominal x-ray and ultrasound(US), hematological and biochemical test, and physical examinations. Nine type of FMF mutations were investigated in the patients. All results were comparatively evaluated considering MEFV (+) or MEFV(-). Results: There were 68 patients (35, 51.4% male and 33, 48.5% female) with a mean age of 29.5+/-10.1 (range: 17-49 years). All patients displayed mild or severe abdominal pain. Genetic analysis revealed that 19 [MEFV(+)] out of 68 patients (27,9%) carry mutation either homozygote or heterozygote. The most frequent mutation seen in seven patients was M694V (36.8%). In MEFV(+) patients, fibrinogen, CRP and lactate dehydrogenase levels(LDH) were significantly higher (p<0.05). On computed tomography, in six patients in whom US showed decompressed appendix, appendicitis was confirmed and appendectomy was performed. Conclusions: The patients with nonspecific abdominal pain should also be considered for FMF before decision of surgery. High levels of fibrinogen, CRP and LDH in addition to clinical history of similar attacks that arise strong clinical suspicion can help diagnose FMF with genetic analysis. Our results need confirmation in larger prospective studies to confirm these preliminary results. [Cukurova Med J 2014; 39(4.000): 814-821]
