INCREASED FREQUENCY OF MEFV GENES IN
PATIENTS WITH EPIGASTRIC PAIN SYNDROME
Coskun BD1, Kiraz A2, Sevinc E1, Baspinar O3, Cakmak E4
*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
page: 51
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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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