Genotype and Phenotype Correlations in Children with Familial Mediterranean Fever

Abstract

Objective: The aim of this study was to review the demographic, clinical, and laboratory data of pediatric familialMediterranean fever (FMF) patients, and to investigate whether there is a correlation between phenotype and genotypein this population. Material and Methods: The medical records of 192 children (106 male and 86 female) with FMF who were followedat Department of Rheumatology-İstanbul Göztepe Training and Research Hospital, were retrospectively evaluated.The patients were divided into four groups according to the most common mutations of M680I, M694V, and V726Aas follows: group 1: M694V heterozygote; group 2: M694V/M694V homozygote; group 3: compound heterozygote(M694V/M680I or M694V/V726A); group 4: group with no mutation. These groups were compared to each otheraccording to age, gender, age at disease onset, age at diagnosis, fever, abdominal pain, arthralgia-arthritis, chest pain,erysipelas-like erythema, disease severity score, amyloidosis and family history.Results: The disease severity score was higher in the M694V homozygote and compound heterozygote groups thanin the group with no mutation, but there was no difference between the M694V homozygote and M694V heterozygotegroups. conclusion: Although the patient population was small and few mutations were detected in the present study, weconclude that the patients that were homozygous for M694V mutations were prone to severe disease.