Balkan Journal of Medical Genetics

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

INTRODUCTION

Functional dyspepsia (FD) is a common functional gastrointestinal disorder in clinical pratice [1,2]. The Rome III consensus proposed the subdivision of FD into postprandial distress syndrome (PDS) and epigastric pain syndrome (EPS). Diagnostic criteria for EPS include intermittent epigastric pain or burning of minimal to moderate severity at least once a week. This condition must have persisted for the last 3 months with the onset of symptoms occuring at least 6 months prior to diagnosis [3]. Functional dyspepsia is treated by two major categories of drug, acid inhibitors (H2-receptor antagonists and proton pump inhibitors) and prokinetic drugs, diet and life-style modification or helicobacter pylori (HP) eradication therapy [4,5]. However, all prescribed medications provide only limited or temporary improvement of dyspeptic symptoms. Thus, the healthy quality of life for patients with FD may deteriorate [1,6]. Familial Mediterranean fever (FMF) is an autosomal recessive inherited disorder, characterized by recurrent attacks of fever and polyserositis. The most frequent symptom is abdominal pain. Familial Mediterranean fever is especially common in Mediterranean populations such as Jews, Arabs, Turks, Greek and Armenians [7]. It is caused by mutations in the Mediterranean fever (MEFV) gene. The carrier rate is 37.0-39.0% in Armenians, and 20.0% in Turks, North African, Ashkenazi Jews, and Arabs [8]. The clinical profile of FMF is wide related to MEFV allelic heterogeneity (typical, atypic and silence type). An atypical clinical form (incomplete attack) was character ized according to several parameters: milder disease severity, the normal or <38 °C fever, attack duration longer or shorter than specific time (12 hours to 3 days), localized abdominal attacks without serositis signs. Non specific symptoms make it difficult to diagnose atypical FMF [9]. We thought that the atypical clinical forms of FMF could be confused with therapy-resistant EPS as these two conditions share the same clinical features (such as abdominal pain). This raises the possibility that FMF is currently being underdiagnosed in patients with therapy-resistant EPS in countries endemic for FMF. Thus, we aimed to determined the frequency of MEFV gene mutations and FMF clinical finding in patients who were followed with a diagnosis of therapy-resistant EPS.

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