Perros P, Hegedüs L, Bartalena L, Marcocci C, Kahaly G J, Baldeschi L, Salvi M, Lazarus J H, Eckstein A, Pitz S, Boboridis K, Anagnostis P, Ayvaz G, Boschi A, Brix T H, Currò N, Konuk O, Marinò M, Mitchell A L, Stankovic B, Törüner F B, von Arx G, Zarković M, Wiersinga W M
Institute of Genetic Medicine, Newcastle University, Central Parkway, Newcastle upon Tyne, Tyne, NE1 3BZ, UK.
Department of Endocrinology, Level 6, Leazes Wing, Royal Victoria Infirmary, Newcastle upon Tyne, NE1 4LP, UK.
Orphanet J Rare Dis. 2017 Apr 20;12(1):72. doi: 10.1186/s13023-017-0625-1.
Graves' orbitopathy (GO) is an autoimmune condition, which is associated with poor clinical outcomes including impaired quality of life and socio-economic status. Current evidence suggests that the incidence of GO in Europe may be declining, however data on the prevalence of this disease are sparse. Several clinical variants of GO exist, including euthyroid GO, recently listed as a rare disease in Europe (ORPHA466682). The objective was to estimate the prevalence of GO and its clinical variants in Europe, based on available literature, and to consider whether they may potentially qualify as rare. Recent published data on the incidence of GO and Graves' hyperthyroidism in Europe were used to estimate the prevalence of GO. The position statement was developed by a series of reviews of drafts and electronic discussions by members of the European Group on Graves' Orbitopathy. The prevalence of GO in Europe is about 10/10,000 persons. The prevalence of other clinical variants is also low: hypothyroid GO 0.02-1.10/10,000; GO associated with dermopathy 0.15/10,000; GO associated with acropachy 0.03/10,000; asymmetrical GO 1.00-5.00/10,000; unilateral GO 0.50-1.50/10,000.
GO has a prevalence that is clearly above the threshold for rarity in Europe. However, each of its clinical variants have a low prevalence and could potentially qualify for being considered as a rare condition, providing that future research establishes that they have a distinct pathophysiology. EUGOGO considers this area of academic activity a priority.
格雷夫斯眼眶病（GO）是一种自身免疫性疾病，与包括生活质量受损和社会经济地位下降在内的不良临床结局相关。目前的证据表明，欧洲GO的发病率可能正在下降，然而关于这种疾病患病率的数据却很稀少。GO存在几种临床变体，包括甲状腺功能正常的GO，最近在欧洲被列为罕见病（ORPHA466682）。目的是根据现有文献估计欧洲GO及其临床变体的患病率，并考虑它们是否可能有资格被视为罕见病。利用欧洲近期发表的关于GO和格雷夫斯甲状腺功能亢进症发病率的数据来估计GO的患病率。该立场声明是由欧洲格雷夫斯眼眶病研究小组的成员对草案进行一系列审查并进行电子讨论后制定的。欧洲GO的患病率约为10/10000人。其他临床变体的患病率也很低：甲状腺功能减退性GO为0.02 - 1.10/10000；与皮肤病变相关的GO为0.15/10000；与杵状指相关的GO为0.03/10000；不对称性GO为1.00 - 5.00/10000；单侧GO为0.50 - 1.50/10000。
在欧洲，GO的患病率明显高于罕见病的阈值。然而，其每种临床变体的患病率都很低，如果未来的研究证实它们具有独特的病理生理学，那么它们有可能有资格被视为罕见病。欧洲格雷夫斯眼眶病研究小组（EUGOGO）认为这一学术活动领域是一个优先事项。
