Under-recognition of autoimmune polyendocrine syndromes in T1DM: results from an extended screening workup.

IF 3.3 3区医学 Q2 ENDOCRINOLOGY & METABOLISM

Endocrine Pub Date : 2026-08-01 DOI:10.1007/s12020-026-04716-2

Valerio Velardi, Lidiana Sanson, Barbara Toffoli, Federico Favaro, Fabio Fischetti, Bruno Fabris, Riccardo Candido, Stella Bernardi

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引用次数: 0

Abstract

Aims: Type 1 diabetes mellitus (T1DM) is frequently associated with other autoimmune disorders, particularly autoimmune thyroid disease (AITD) and celiac disease. Guidelines recommend screening for thyroid and celiac disease in T1DM patients. Nevertheless, in case of their positivity, indicating the presence of an autoimmune polyendocrine syndrome (APS), there is a lack of guidance on how to proceed. Should we screen these patients for other autoimmune diseases? This study's aim was to evaluate the prevalence of additional autoimmune conditions in a cohort of T1DM patients with AITD and/or celiac disease.

Methods: This cross-sectional study includes adult T1DM patients identified through electronic medical records. Patients with concomitant AITD or celiac disease were invited to undergo an extended screening workup for autoimmune disorders.

Results: 639 T1DM patients were identified, and 198 (31%) met the clinical criteria for APS (T1DM plus AITD and/or celiac disease), but only 17 (8.6%) had a formal APS diagnosis in their records. After the extended screening in 139/198 patients, 39% exhibited previously unknown autoantibody positivity, and 11.5% had new autoimmune diseases. Overall, among the patients who underwent the extended screening, 32% (44/139) were diagnosed with at least three autoimmune diseases.

Conclusions: Our study shows that APS is often under-recognized and rarely formally documented in patients with T1DM. In addition, 32% of T1DM patients with AITD or celiac disease have at least a third autoimmune disease. These findings highlight that the identification of AITD or celiac disease in T1DM marks only one stage of the diagnostic journey. APS recognition should lead to a formal diagnosis and ensure heightened clinical vigilance with tailored evaluation of further autoimmune comorbidities during lifelong patient follow-up.

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自身免疫性多内分泌综合征在T1DM中的识别不足：来自扩展筛查检查的结果

目的：1型糖尿病（T1DM）经常与其他自身免疫性疾病相关，特别是自身免疫性甲状腺疾病（AITD）和乳糜泻。指南建议对T1DM患者进行甲状腺和乳糜泻筛查。然而，如果它们呈阳性，表明存在自身免疫性多内分泌综合征（APS），则缺乏如何进行的指导。我们是否应该对这些患者进行其他自身免疫性疾病的筛查？本研究的目的是评估伴有AITD和/或乳糜泻的T1DM患者中其他自身免疫性疾病的患病率。方法：本横断面研究包括通过电子病历识别的成年T1DM患者。伴有AITD或乳糜泻的患者被邀请接受自身免疫性疾病的扩展筛查工作。结果：639例T1DM患者中，198例（31%）符合APS （T1DM + AITD和/或乳糜泻）的临床标准，但只有17例（8.6%）在其记录中有正式的APS诊断。在139/198例患者的扩大筛查后，39%表现出以前未知的自身抗体阳性，11.5%出现新的自身免疫性疾病。总体而言，在接受扩展筛查的患者中，32%（44/139）被诊断患有至少三种自身免疫性疾病。结论：我们的研究表明，APS在T1DM患者中经常被低估，很少有正式记录。此外，32%的合并AITD或乳糜泻的T1DM患者至少有第三种自身免疫性疾病。这些发现强调，在T1DM中发现AITD或乳糜泻只是诊断过程中的一个阶段。APS识别应导致正式诊断，并确保在患者终身随访期间对进一步的自身免疫性合并症进行量身定制的评估，从而提高临床警惕性。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Endocrine ENDOCRINOLOGY & METABOLISM-

CiteScore

6.50

自引率

5.40%

发文量

295

审稿时长

1.5 months

期刊介绍： Well-established as a major journal in today’s rapidly advancing experimental and clinical research areas, Endocrine publishes original articles devoted to basic (including molecular, cellular and physiological studies), translational and clinical research in all the different fields of endocrinology and metabolism. Articles will be accepted based on peer-reviews, priority, and editorial decision. Invited reviews, mini-reviews and viewpoints on relevant pathophysiological and clinical topics, as well as Editorials on articles appearing in the Journal, are published. Unsolicited Editorials will be evaluated by the editorial team. Outcomes of scientific meetings, as well as guidelines and position statements, may be submitted. The Journal also considers special feature articles in the field of endocrine genetics and epigenetics, as well as articles devoted to novel methods and techniques in endocrinology. Endocrine covers controversial, clinical endocrine issues. Meta-analyses on endocrine and metabolic topics are also accepted. Descriptions of single clinical cases and/or small patients studies are not published unless of exceptional interest. However, reports of novel imaging studies and endocrine side effects in single patients may be considered. Research letters and letters to the editor related or unrelated to recently published articles can be submitted. Endocrine covers leading topics in endocrinology such as neuroendocrinology, pituitary and hypothalamic peptides, thyroid physiological and clinical aspects, bone and mineral metabolism and osteoporosis, obesity, lipid and energy metabolism and food intake control, insulin, Type 1 and Type 2 diabetes, hormones of male and female reproduction, adrenal diseases pediatric and geriatric endocrinology, endocrine hypertension and endocrine oncology.