Background Adult onset Still’s disease (AOSD) is a rare rheumatic disease characterized by high fever, cutaneous rash, articular symptom, lymphadenopathy, leukocytosis and abnormal liver function test. Familial Mediterranean fever (MEFV) is an inherited disorder and one of the periodic fever syndrome and its mutations of MEFV gene, including E148Q have been described. Some contribution of MEFV gene mutation and certain rheumatic disease has been suggested.

Objectives The purpose of this study is to research the incidence and clinical significance of MEFV gene E148Q mutations in a cohort of patients with AOSD in Korea.

Methods The study included ninety-four patients with AOSD and one hundred sixty-five healthy controls. In all patients and controls, genomic DNAs were isolated and genotyped using restriction fragment length polymorphism for five MEFV gene mutations such as E148Q, P369S, M680I, V726A and M694V. In the AOSD patients, the clinical significance of MEFV mutation, especially E148Q heterozygote and homozygote were compared with E148 homozygote by the laboratory findings and modified Pouchot’s activity score.

Results P369S was detected in seven (7.4%) of AOSD patient and ten (6.1%) of control group, but M680I, V726A and M694V were not found in both groups. In control group, seventy-seven persons (46.6%) found to carry 148Q allele were consisted with seventy-one E148Q heterozygotes (92.2%) and six E148Q homozygotes (7.8%). In AOSD patients, fifty-one patients (54.3%) were E148 homozygote and forty-three patients (45.7%) were found to carry 148Q allele consisted with fifty-eight E148Q heterozygotes (92.1%) and five E148Q homozygotes (7.9%). The frequency of 148Q allele was not clinical significance between control group and AOSD patients (p value=0.887). In the group of AOSD patients (E148 homozygote versus E148Q heterozygote and homozygote), there were statistical differences of sore throat (p value=0.017) and level of ESR (p value=0.025), but no significant differences of onset-age, leukocytosis, abnormal liver function test, level of CRP and ferritin, fever, arthralgia, activity score and disease pattern.

Conclusions The high incidence of E148Q mutation among MEFV gene mutations was found in this Korean cohort. But, MEFV E148Q mutation was not associated with the development of AOSD patients in Korea. Eventually E148Q mutation was correlated with only high ESR and sore throat, but we need to look for association with clinical response to certain treatment and longer prognosis.

Disclosure of Interest None Declared