Yao Qingping, Shen Bo
Department of Rheumatic and Immunologic Disease, Cleveland Clinic, Ohio; Division of Rheumatology, Allergy and Immunology, Stony Brook University, NY.
Department of Gastroenterology/Hepatology, Cleveland Clinic, Ohio.
Am J Med. 2017 Mar;130(3):365.e13-365.e18. doi: 10.1016/j.amjmed.2016.09.028. Epub 2016 Oct 28.
Yao syndrome, formerly named NOD2-associated autoinflammatory disease, is a periodic disease characterized by fever, dermatitis, polyarthritis/leg swelling, and gastrointestinal and sicca-like symptoms associated with specific NOD2 sequence variants. Our aim was to evaluate the treatment and outcomes of the disease.
A total of 52 adult patients with autoinflammatory disease phenotype were diagnosed with Yao syndrome and enrolled at the Cleveland Clinic between November 2009 and May 2015. All patients were genotyped for the NOD2 variants, and systematically studied for treatment outcomes.
Among the 52 Yao syndrome patients, all were white, and 72% were women. The mean age at diagnosis was 38.0 ± 12.0 years, and the disease duration was 8.8 ± 5.8 years. In the multi-organ disease, more common and typical manifestations were recurrent dermatitis and inflammatory arthritis with or without distal leg swelling besides recurrent fever. It was genotypically associated with the NOD2 IVS8 or R702W. Therapeutically, glucocorticoids markedly decreased the disease severity and duration of flares in 19 patients (36.6%), sulfasalazine treatment achieved a significant symptomatic improvement in 22 (42%) patients, and 3 patients received canakinumab or tocilizumab with benefits. Prognostically, 13% of the 52 patients had somewhat physical impairment, and there was no mortality during the follow-up. Associated comorbidities were fibromyalgia, asthma, renal stones, and ventricular hypertrophy.
As a systemic disease, Yao syndrome uncommonly affects the solid internal organs, but it can be complicated with chronic pain syndrome and even disability. Glucocorticoids or sulfasalazine may be considered as the first-line treatment option, and interleukin (IL)-1/IL-6 inhibitors may be tried for refractory cases. The potential associations between certain comorbidities and Yao syndrome deserve further study.
姚氏综合征，以前称为NOD2相关自身炎症性疾病，是一种周期性疾病，其特征为发热、皮炎、多关节炎/腿部肿胀，以及与特定NOD2序列变异相关的胃肠道和干燥样症状。我们的目的是评估该疾病的治疗方法和预后。
2009年11月至2015年5月期间，共有52例具有自身炎症性疾病表型的成年患者在克利夫兰诊所被诊断为姚氏综合征并纳入研究。所有患者均进行了NOD2变异的基因分型，并对治疗结果进行了系统研究。
在52例姚氏综合征患者中，均为白人，72%为女性。诊断时的平均年龄为38.0±12.0岁，病程为8.8±5.8年。在多器官疾病中，除了反复发热外，更常见和典型的表现是反复性皮炎和炎症性关节炎，伴或不伴有远端腿部肿胀。其基因分型与NOD2 IVS8或R702W相关。在治疗方面，糖皮质激素使19例患者（36.6%）的疾病严重程度和发作持续时间显著降低，柳氮磺胺吡啶治疗使22例患者（42%）的症状得到显著改善，3例患者接受卡那单抗或托珠单抗治疗并取得疗效。在预后方面，52例患者中有13%存在一定程度的身体损伤，随访期间无死亡病例。相关合并症有纤维肌痛、哮喘、肾结石和心室肥厚。
作为一种全身性疾病，姚氏综合征很少影响实质性内脏器官，但可并发慢性疼痛综合征甚至残疾。糖皮质激素或柳氮磺胺吡啶可被视为一线治疗选择，对于难治性病例可尝试使用白细胞介素（IL）-1/IL-6抑制剂。某些合并症与姚氏综合征之间的潜在关联值得进一步研究。
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