서양에만 있고 우리나라에는 없는 것으로 생각되었던 질병이 뒤늦게 국내에서 진단되는 경우가 있습니다. 그 중 하나가 familial mediterranean fever입니다. 간헐적 복통, 온몸의 피부 발진과 전신적 열감 등의 증세로 응급실이나 외래를 전전하는 환자에서 잊지 말아야 할 중요 감별진단입니다. 진단 기준으로는 Tel-Hashomer criteria가 많이 언급되고 있습니다만 최근에는 유전자 검사가 거의 필수입니다.
2013년 12월 10일 이화여자대학교 목동병원 2층 대회의실에서 열렸던 제 102회 대한소화기내시경학회 집담회에서 한 증례가 소개되었습니다. 여러번 응급실을 방문하여 많은 검사를 받았으나 진단이 되지 않다가 뒤늦게 16번 염색체 MEFV 유전자 돌연변이가 있는 familial mediterranean fever로 확인된 경우였습니다. 당시 우리나라에 성인 3 증례, 소아 1 증례가 있다고 들었습니다. 일본에서는 수백명 이상이 보고되고 있습니다.
알고 있어야 진단할 수 있는 병이라고 생각합니다. 저도 아직까지 한 증례도 진단한 적이 없습니다만 언젠가 꼭 발견하고 싶습니다.
1. FMF 우리나라 첫 증례 (Familial Mediterranean fever: the first adult case in Korea)
Findings of abdominal CT. (A) Left sided small bowel (probably jejunal loop, arrow) wall thickening and multiple enlarged mesenteric lymph nodes. (B) Small amount of pelvic fluid collection.
Results of the DNA analysis of the MEFV gene mutation analysis (c.[329T > C; 442G > C] + [442G > C])
2. Familial Mediterranean fever in Japan (2009 survey)
Familial Mediterranean fever (FMF) is a hereditary autoinflammatory disease that is prevalent in Mediterranean populations. While it is considered a rare disease in the rest of world, a significant number of FMF patients have been reported in East Asia, including Japan. Our aim was to determine the prevalence of FMF in Japan and elucidate the clinical and genetic features of Japanese patients. A primary nationwide survey of FMF was conducted between January and December 2009. Hospitals specializing in pediatrics and hospitals with pediatric, internal medicine, and rheumatology/allergy departments were asked to report all patients with FMF during the survey year.
The estimated total number of Japanese FMF patients was 292 (95% confidence interval, 187-398 people). We evaluated the clinical and genetic profiles of Japanese patients from the data obtained in a secondary survey of 134 FMF patients. High-grade fever was observed in 95.5%, chest pain (pleuritis symptoms) in 36.9%, abdominal pain (peritonitis symptoms) in 62.7%, and arthritis in 31.3%. Of the patients profiled, 25.4% of patients experienced their first attack before 10 years of age, 37.3% in their teens, and 37.3% after age 20 years. Colchicine was effective in 91.8% of patients at a relatively low dose (mean dose, 0.89 ± 0.45 mg/d). AA amyloidosis was confirmed in 5 patients (3.7%).
Of the 126 patients studied, 109 (86.5%) were positive for 1 or more genetic mutations and 17 (13.5%) had no mutation detected. Common Mediterranean fever gene (MEFV) mutations were E148Q/M694I (19.8%) and M694I/normal (12.7%). The differences in the prevalence of peritonitis, pleuritis, and a family history of FMF were statistically significant between FMF patients with MEFV exon 10 mutations compared with those without exon 10 mutations.In conclusion, a significant number of patients with FMF exist in Japan. Although Japanese patients with FMF are clinically or genetically different from Mediterranean patients, the delay in diagnosis is an issue that should be resolved.
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