INCREASED FREQUENCY OF MEFV GENES IN PATIENTS WITH EPIGASTRIC PAIN SYNDROME
Coskun BD, Kiraz A, Sevinc E, Baspinar O, Cakmak E
*Corresponding Author: Banu D. Coskun, M.D., Kicikapı Mahallesi Hoca Ahmet Yesevi Cad Hidayet Eraslan sitesi B Blok No: 12, Talas/Kayseri Turkey. Tel: +90-506-323-24-86. Fax: +90-352-437-52-73. E-mail: demetcoskun2@gmail.com
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RESULTS

The EPS patients and controls had mean ages of 38.9 13.9 and 34.6 7.6, respectively. Seventy-two percent of EPS patients were female. Eighteen patients (24.0%) had a family history of FMF. The mean duration of abdominal pain was 10 2.5 years (range from 5 to 22 years). Ten (13.3%) patients were the result of consanguineous parents. Episodic epigastric pain was the principal complaint reported by all patients. Other observed complaints consisted of several types: fever (28; 37.3%), arthralgia (27; 36.0%), chest pain (11; 14.6%), history of kidney stones (9; 12.0%) and oral ulcers (10; 13.3%). In the patients, the mean erythrocyte sedimentation rate was 21.4 11.4 mm/h (normal value <15 mm/h), C-reactive protein was 8.0 3.3 mg/dL (normal range: 0.0-6.0 mg/dL) and fibrinogen 311.8 85.0 mg/dL (normal range: 180.0-400.0 mg/dL). Of the 75 patients, 43 (57.3%) had MEFV gene mutations. Thirty out of 43 patients (69.7%) were heterozygous, three patients (6.9%) were homozygotes (R202Q/R202Q), six patients (13.9%) were compound heterozygotes for two mutation and four patients (9.3%) were compound heterozygotes for three mutations. The most common MEFV gene mutation was R202Q (55.8%), followed by E148Q (16.2%), R761H (16.2%), V726A (9.3%), M680I (9.3%) and M694V (4.6%). In addition, the rare mutations were identified as: K695R (2.3%, n = 1), L110P (2.3%, n = 1) and G304R (2.3%, n = 1). R202Q was detected in 24 patients, of which 15 (34.8%) were heterozygous, three (6.9%) were homozygous and one (6.9%) were a compound hetrozygote for three mutations. The demographic, clinical and laboratory characteristics of the patients with EPS and the control group are shown in Table 2. In the control group, eight subjects (40.0%) had MEFV gene mutations. The frequency of MEFV mutation in EPS patients was significantly higher than in the control group (p <0.05). All participants in the control group were heterozygous (R202Q in one patients, E148Q in two patients, V726A in two patients, M680I in two patients and M694I in one patient). The frequency of MEFV mutations in EPS patients and the control group are shown in Table 3. No significant differences were observed in the frequencies of consanguinity, fever, arthralgia, chest pain and FMF family history in EPS patients with or without the MEFV mutation. In the EPS group, three patients with compound heterozygosities for three mutations, two patients with compound heterozygosities for two mutations (K695R/V726A and R202Q/R761H), one patient with homozygous R202Q, one patient with heterozygous R202Q, and one patient with a heterozygous G304R/ mutation had clinical FMF symptoms and were started on colchicine therapy. Proteinuria was not detected in patients who were diagnosed with FMF. The genotype, clinical and demographic findings in FMF patients are shown in Table 4. The remaining EPS patients with MEFV gene mutations have no FMF clinical symptoms or family history of FMF. The other clinically asymptomatic patients who have MEFV gene mutations (homozygotes or compound heterozygotes) were followed with urine analysis to development of amyloidosis, without colchicine. The comparison of clinical findings between EPS patients with/ without MEFV gene mutations, are shown in Table 5.



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