Department of Angiology, Endocrinology and Rheumatology, General Hospital Celje, Celje, Slovenia.
J Clin Rheumatol. 2011 Sep;17(6):325-8. doi: 10.1097/RHU.0b013e31822e092c.
Tumor necrosis factor receptor-associated periodic fever syndrome (TRAPS) is a rare systemic autoinflammatory disorder characterized by recurrent episodes of fever and localized inflammation of different organs. The disease is dominantly inherited, with an onset usually in early childhood. We describe a case of a 58-year-old patient with TRAPS caused by the low-penetrance R92Q mutation in TNFRSF1A gene. The patient responded well to anti-tumor necrosis factor α therapy. Although periodic fever syndromes, including TRAPS, mainly begin in early childhood, it is important to consider periodic fever syndrome also in patient presenting at an age older than the average reported case for TRAPS.
肿瘤坏死因子受体相关周期性发热综合征(TRAPS)是一种罕见的全身炎症性疾病,其特征是反复发作的发热和不同器官的局部炎症。该病呈显性遗传,发病通常在儿童早期。我们描述了一例由 TNFRSF1A 基因低外显率 R92Q 突变引起的 58 岁 TRAPS 患者。该患者对抗肿瘤坏死因子 α 治疗反应良好。尽管包括 TRAPS 在内的周期性发热综合征主要发生在儿童早期,但在 TRAPS 的平均发病年龄以上的患者中也应考虑周期性发热综合征。