Sönmez Hafize Emine, Batu Ezgi Deniz, Bilginer Yelda, Özen Seza
Department of Pediatrics, Division of Rheumatology, Hacettepe University Faculty of Medicine, Ankara, 06100, Turkey.
Clin Rheumatol. 2017 Feb;36(2):421-425. doi: 10.1007/s10067-016-3421-8. Epub 2016 Sep 27.
Familial Mediterranean fever (FMF) is inherited autosomal recessively; however, heterozygotes may express FMF phenotype. We aimed to define the characteristics of FMF patients heterozygous for MEFV (MEditerranean FeVer) mutations in whom colchicine was stopped after a period of treatment, with close follow-up. We reviewed the charts of 182 children who were heterozygous for MEFV variants. We excluded the patients (n = 34) heterozygous for MEFV variants of unknown significance and patients with typical periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis syndrome (n = 2). All patients were followed up with their routine analysis and serum amyloid A levels every 6 months while on colchicine treatment and every 3-6 months thereafter. MEFV gene variant analysis was performed with Sanger sequencing. Twenty-two out of 146 heterozygotes initially had FMF phenotype, but colchicine was discontinued after a treatment period. The most common MEFV variant was M694V (86.3 %). The median age at diagnosis/initiation of colchicine was 76 (24-144) months. The median duration of colchicine treatment was 36 (24-110) months. The median age at colchicine cessation was 120 (55-172) months. At the time of colchicine cessation, the median attack- and inflammation-free period was 27 (24-84) months. The median follow-up after colchicine cessation was 22.5 (6-102) months. We re-started colchicine in only two patients because of recurrence of symptoms. Individuals with one mutation only can display FMF phenotype and require colchicine for the clinical and laboratory inflammation. However, in some of these patients, colchicine may be discontinued with very careful follow-up.
家族性地中海热（FMF）为常染色体隐性遗传；然而，杂合子可能表现出FMF表型。我们旨在明确在接受一段时间治疗后停用秋水仙碱并进行密切随访的MEFV（地中海热）突变杂合子FMF患者的特征。我们回顾了182例MEFV变异杂合子儿童的病历。我们排除了意义不明的MEFV变异杂合子患者（n = 34）以及患有典型周期性发热、阿弗他口炎、咽炎和颈淋巴结炎综合征的患者（n = 2）。所有患者在服用秋水仙碱治疗期间每6个月进行一次常规分析和血清淀粉样蛋白A水平检测，之后每3 - 6个月检测一次。采用桑格测序法进行MEFV基因变异分析。146例杂合子中有22例最初具有FMF表型，但在一段治疗期后停用了秋水仙碱。最常见的MEFV变异是M694V（86.3%）。诊断/开始使用秋水仙碱时的中位年龄为76（24 - 144）个月。秋水仙碱治疗的中位持续时间为36（24 - 110）个月。停用秋水仙碱时的中位年龄为120（55 - 172）个月。在停用秋水仙碱时，发作和炎症-free期的中位时间为27（24 - 84）个月。停用秋水仙碱后的中位随访时间为22.5（6 - 102）个月。仅2例患者因症状复发重新开始使用秋水仙碱。仅有一个突变的个体可能表现出FMF表型，并且临床和实验室炎症需要秋水仙碱治疗。然而，在其中一些患者中，经过非常仔细的随访后可以停用秋水仙碱。
