Recurrence risk of autoimmune thyroid and endocrine diseases

IF 6.1 1区 医学 Q1 ENDOCRINOLOGY & METABOLISM
Lara Frommer (Lab biologist) , Jochem König (Consultant Statistician) , Sofia Chatzidou (Lab Associate) , Georgios Chionos (Lab Associate) , Jan Längericht (Pharmacist) , George J. Kahaly (Professor of Medicine Endocrinology/Metabolism)
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引用次数: 4

Abstract

Background and objective

The recurrence risk ratio (λ) expresses the risk ratio of index patients’ first-degree relatives developing a disease as compared to the general population and is a quantitative measure of the genetic contribution to the disease. This paper offers the results of a specialized center as well as a review of the pertinent literature.

Methods

Data from 3315 consecutive subjects followed at an ORPHAN academic tertiary referral expert center for endocrine autoimmunity as well as 419 unrelated German families were collected. λ was assessed based on 806 well-documented subjects, 299 index patients with autoimmune glandular (AIGD) and non-endocrine diseases and 507 of their first-degree relatives (328 children, 179 siblings).

Results

As many as 36% of relatives of patients with autoimmune diseases (AID) were affected by various autoimmune conditions. Twenty-five percent and 23% of all relatives had an AIGD or an autoimmune thyroid disease (AITD), respectively. Furthermore, 29% and 25% of relatives of index cases with polyglandular (PGA) and monoglandular (MGA) autoimmunity were affected. The recurrence risk for AITD was increased 16-fold in both children and siblings compared to the general population (λ, 95% CI 16, 11–21 and 16, 12–19, respectively). Furthermore, λ for AITD/AIGD was 21.62 (95% CI 14.17–30.69)/17.57 (11.80–24.36) and 13.48 (8.42–20.52)/10.68 (6.76–16.02) for siblings of patients with PGA and MGA, respectively. Overall, a strong genetic component for AITD and AIGD with a significant genetic impact on the development of PGA was demonstrated.

Conclusion

These novel results strongly recommend the screening for AITD and AIGD in children and siblings of index patients with AITD.

自身免疫性甲状腺和内分泌疾病的复发风险
背景和目的复发风险比(λ)表示指标患者的一级亲属与普通人群相比患疾病的风险比,是对疾病遗传贡献的定量衡量。本文提供了一个专门中心的研究结果以及相关文献的综述。方法收集在ORPHAN学术三级内分泌自身免疫转诊专家中心随访的3315名连续受试者以及419个无关的德国家庭的数据。λ是基于806名有充分记录的受试者、299名自身免疫性腺性和非内分泌疾病的指数患者及其507名一级亲属(328名儿童,179名兄弟姐妹)进行评估的。25%和23%的亲属分别患有AIGD或自身免疫性甲状腺疾病(AITD)。此外,29%和25%的多糖(PGA)和单糖(MGA)自身免疫指数病例的亲属受到影响。与普通人群相比,儿童和兄弟姐妹的AITD复发风险增加了16倍(λ,95%CI分别为16,11-21和16,12-19)。此外,对于PGA和MGA患者的兄弟姐妹,AITD/AIGD的λ分别为21.62(95%CI 14.17–30.69)/17.57(11.80–24.36)和13.48(8.42–20.52)/10.68(6.76–16.02)。总体而言,AITD和AIGD具有强大的遗传成分,对PGA的发育具有显著的遗传影响。结论这些新结果强烈建议对指数型AITD患者的儿童和兄弟姐妹进行AITD和AIGD筛查。
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
CiteScore
11.90
自引率
0.00%
发文量
77
审稿时长
6-12 weeks
期刊介绍: Best Practice & Research Clinical Endocrinology & Metabolism is a serial publication that integrates the latest original research findings into evidence-based review articles. These articles aim to address key clinical issues related to diagnosis, treatment, and patient management. Each issue adopts a problem-oriented approach, focusing on key questions and clearly outlining what is known while identifying areas for future research. Practical management strategies are described to facilitate application to individual patients. The series targets physicians in practice or training.
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