Keklik Muzaffer, Unal Ali, Sivgin Serdar, Kontas Olgun, Eroglu Eray, Yilmaz Semih, Kaynar Leylagul, Eser Bulent, Cetin Mustafa
Erciyes Stem Cell Transplantation Hospital, Department of Hematology, Faculty of Medicine, Erciyes University, Kayseri, Turkey 38039.
Department of Pathology, Faculty of Medicine, Erciyes University, Kayseri, Turkey.
Indian J Hematol Blood Transfus. 2014 Sep;30(Suppl 1):138-41. doi: 10.1007/s12288-013-0296-6. Epub 2013 Aug 27.
Familial Mediterranean fever (FMF) is a genetic disease with autosomal inheritance characterized by recurrent fever, abdominal pain, and serositis attacks. It is relatively common in the races and ethnical groups around Mediterranean Sea (Sephardic Jews, Armenians, Turks and Arabians). Hereditary elliptocytosis (HE) is common genetic defect of the red blood cell membrane skeleton. Spectrin mutations are the predominant causes of HE. Hypereosinophilia is defined as a number of eosinophil granulocytes equal or greater than 0.5 × 10(9)/L of circulating blood. The main causes are allergies and parasitic infections. This case report describes a Turkish female HE patient who presented with FMF and hypereosinophilia. Genetic analysis revealed heterozygous mutation in exon 10 of the MEFV gene (V726A). The patient was successfully treated with colchicine and steroid treatment at 3-month follow-up. To the best of our knowledge, this is the first report of association between FMF, HE, and hypereosinophilia.
家族性地中海热(FMF)是一种常染色体隐性遗传疾病,其特征为反复发热、腹痛和浆膜炎发作。它在地中海周边的种族和民族群体(西班牙裔犹太人、亚美尼亚人、土耳其人和阿拉伯人)中相对常见。遗传性椭圆形红细胞增多症(HE)是红细胞膜骨架常见的遗传缺陷。血影蛋白突变是HE的主要病因。嗜酸性粒细胞增多症定义为循环血液中嗜酸性粒细胞数等于或大于0.5×10⁹/L。主要病因是过敏和寄生虫感染。本病例报告描述了一名患有FMF和嗜酸性粒细胞增多症的土耳其女性HE患者。基因分析显示MEFV基因第10外显子存在杂合突变(V726A)。患者在3个月的随访中接受秋水仙碱和类固醇治疗后获得成功治愈。据我们所知,这是FMF、HE和嗜酸性粒细胞增多症之间关联的首例报告。