Bourguiba R, Savey L, Aouba A, Deshayes S, Fain O, Martin-Silva N, Hentgen V, Desdoits A, Grateau G, Giurgea I, Georgin-Lavialle S
Service de médecine interne, centre de référence des maladies auto-inflammatoires et des amyloses d'origine inflammatoire (CEREMAIA), Sorbonne université, hôpital Tenon, AP-HP, 20, rue de la Chine, 75020 Paris, France.
Service de médecine interne, Unicaen, CHU de Caen Normandie, Normandie université, 14000 Caen, France.
Rev Med Interne. 2021 Jul;42(7):459-464. doi: 10.1016/j.revmed.2020.08.007. Epub 2020 Oct 31.
Tumor Necrosis Factor Type 1 Receptor Associated Periodic Syndrome (TRAPS) is a rare autosomal dominant autosomal autoinflammatory disease associated with mutations in the TNF type 1 receptor gene (TNFRSF1A). It is characterized by relatively long recurrent febrile seizures with an average duration of 7 days accompanied by arthralgia, myalgia, and usually a rash. In a patient of Mediterranean origin with recurrent fever, familial Mediterranean fever is the first diagnosis to be suspected by argument of frequency.
A retrospective observational study was conducted on patients from Mediterranean origin followed for TRAPS and included in the "Juvenile Inflammatory Rheumatism" (JIR) observational cohort in the national French autoinflammatory center. The age of onset of symptoms, age of diagnosis, number of years of wandering and treatments received were collected for each index case.
Nine patients from 6 families of Mediterranean origin were included. A molecular diagnosis confirmed TRAPS in all patients. The median age at diagnosis was 26 years, the mean number of years of wandering was 17 years. The diagnosis of FMF was made first in all patients. AA amyloidosis revealed TRAPS in 2 patients. Colchicine was started without any efficacy in all cases. Five patients were treated with interleukin-1 inhibitory biotherapy with 100% efficacy.
In a patient of Mediterranean origin presenting with recurrent febrile abdominal pain of AA amyloidosis, the first diagnosis to be suspected is FMF. Long relapses, dominant transmission, a non-Mediterranean relative, and the ineffectiveness of colchicine should evoke TRAPS.
肿瘤坏死因子1型受体相关周期性综合征（TRAPS）是一种罕见的常染色体显性自身炎症性疾病，与肿瘤坏死因子1型受体基因（TNFRSF1A）突变有关。其特征为相对较长的复发性发热惊厥，平均持续7天，伴有关节痛、肌痛，通常还有皮疹。在地中海地区血统且反复发热的患者中，由于发病率较高，首先应怀疑家族性地中海热。
对来自地中海地区且因TRAPS接受随访并纳入法国国家自身炎症性疾病中心“青少年炎性风湿病”（JIR）观察队列的患者进行了一项回顾性观察研究。收集了每个索引病例的症状起始年龄、诊断年龄、误诊年限及接受的治疗。
纳入了来自6个地中海地区血统家族的9名患者。分子诊断证实所有患者均为TRAPS。诊断时的中位年龄为26岁，平均误诊年限为17年。所有患者最初均被诊断为家族性地中海热。2例患者因AA淀粉样变性病确诊为TRAPS。所有病例使用秋水仙碱均无疗效。5例患者接受白细胞介素-1抑制生物治疗，有效率达100%。
在地中海地区血统且出现复发性发热性腹痛伴AA淀粉样变性病的患者中，首先应怀疑的诊断是家族性地中海热。长期复发、显性遗传、非地中海地区亲属以及秋水仙碱治疗无效应提示TRAPS。
