ESPN 51th Annual Meeting

ESPN 2018


 
GENOTYPE-PHENOTYPE CORRELATION IN FMF PATIENTS
GÖZDE GÜRPINAR 1 NURVER AKINCI 1 GÜL ÖZÇELİK 1 YILDIZ YILDIRMAK 1

1- SİSLİ HAMİDİYE ETFAL EDUCATİON AND RESEARCH HOSPİTAL
 
Introduction:

 Familial Mediterranean Fever is a common hereditary disease in Turkey. 

Material and methods:

The aim of the current study was to determine the frequency of the Mediterranean Fever (MEFV) gene pathogenic variants in 200 children diagnosed with Familial Mediterranean Fever (FMF) and to compare the phenotype-genotype correlation.

Results:

Here we report the MEFV gene variations in exons 2, 3, 5 and 10 and their relations to major clinical symptoms of FMF in 200 unrelated (93 males and 107 females) patients. All the patients involved in our study were carrying genetic mutations related with FMF disease and were under treatment. Ninety-six(48%) patients were heterozygous, sixty-three (32%) patients were compound heterozygous, fourty-one (20%) patients were homozygous.

Allele frequencies of MEFV mutations were R202Q (29,5%), M694V (22,5%), E148Q (11%). The most prominent clinical symptoms were abdominal pain (92,5%), fever (68,5%) and arthralgia (39,5%). Almost all major clinical symptoms of FMF were higher in patients with one or more M694V mutant allele. Patients with M694V have higher fever  and arthralgia than expected. In contrast, patients having E148Q  heterozygous showed fewer clinical FMF symptoms. Myalgia was high in R202Q homozygous genotype.

It was found that the clinical course of the patients carrying E148Q mutation was better.

Conclusions:

 

This has to be kept in mind that, besides the mostly seen mutation of M694V, patients carrying the mutation of R202Q and E148Q together with the clinical signs should also be investigated for FMF disease.