Pham-Dobor Greta, Kaltenecker Peter, Temesfoi Viktoria, Bajnok Laszlo, Nemes Orsolya, Bodis Beata, Mezosi Emese
First Department of Medicine, Clinical Centre, Medical School, University of Pecs, Pecs 7624, Hungary.
Institute For Translational Medicine, Medical School, University of Pecs, Pecs 7624, Hungary.
J Clin Endocrinol Metab. 2025 May 19;110(6):1716-1728. doi: 10.1210/clinem/dgae701.
The purpose of our work was to provide a data-driven perspective to autoimmune polyglandular syndrome (APS), a complex autoimmune disorder, supplementing traditional clinical observations.
Medical records of 7559 patients were analyzed, and autoimmune origin was proved in 3180 cases of which 380 (12%) had APS. Associations of component disorders were investigated by computational methods to reveal typical patterns of disease development.
Twenty-eight distinct autoimmune disorders were diagnosed forming 113 combinations. The 10 most frequent combinations were responsible for 51.3% of cases. Hashimoto's thyroiditis (HT) and Graves' disease (GD) were differentiated as the main cornerstones of APS, sharing several comorbidities. HT was the most common manifestation (67.4%), followed by GD (26.8%) and type 1 diabetes mellitus (T1D) (20.8%). APS started significantly earlier in men than in women. Thyroid autoimmunity was frequently linked to gastrointestinal and systemic manifestations, and these patterns of associations substantially differed from that of T1D, Addison's disease, or coeliac disease when present as first manifestations, suggesting the possibility of a common biological cause.
APS is more frequent than reported. Classifying APS requires a shift of perspective toward disease associations rather than disorder prevalence.
我们工作的目的是为自身免疫性多腺体综合征（APS）这一复杂的自身免疫性疾病提供一个数据驱动的视角，以补充传统的临床观察。
分析了7559例患者的病历，其中3180例被证实有自身免疫起源，其中380例（12%）患有APS。通过计算方法研究了组成疾病的关联，以揭示疾病发展的典型模式。
诊断出28种不同的自身免疫性疾病，形成113种组合。10种最常见的组合占病例的51.3%。桥本甲状腺炎（HT）和格雷夫斯病（GD）被区分为APS的主要基石，有几种合并症。HT是最常见的表现（67.4%），其次是GD（26.8%）和1型糖尿病（T1D）（20.8%）。APS在男性中发病明显早于女性。甲状腺自身免疫常与胃肠道和全身表现相关，当这些关联模式作为首发表现出现时，与T1D、艾迪生病或乳糜泻的关联模式有很大不同，提示可能存在共同的生物学原因。
APS比报道的更为常见。对APS进行分类需要将视角从疾病患病率转向疾病关联。
