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)
{"title":"自身免疫性甲状腺和内分泌疾病的复发风险","authors":"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)","doi":"10.1016/j.beem.2022.101636","DOIUrl":null,"url":null,"abstract":"<div><h3>Background and objective</h3><p>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.</p></div><div><h3>Methods</h3><p>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).</p></div><div><h3>Results</h3><p>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<span> 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.</span></p></div><div><h3>Conclusion</h3><p>These novel results strongly recommend the screening for AITD and AIGD in children and siblings of index patients with AITD.</p></div>","PeriodicalId":8810,"journal":{"name":"Best practice & research. Clinical endocrinology & metabolism","volume":"37 2","pages":"Article 101636"},"PeriodicalIF":6.1000,"publicationDate":"2023-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"4","resultStr":"{\"title\":\"Recurrence risk of autoimmune thyroid and endocrine diseases\",\"authors\":\"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)\",\"doi\":\"10.1016/j.beem.2022.101636\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<div><h3>Background and objective</h3><p>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.</p></div><div><h3>Methods</h3><p>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).</p></div><div><h3>Results</h3><p>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<span> 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.</span></p></div><div><h3>Conclusion</h3><p>These novel results strongly recommend the screening for AITD and AIGD in children and siblings of index patients with AITD.</p></div>\",\"PeriodicalId\":8810,\"journal\":{\"name\":\"Best practice & research. 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Recurrence risk of autoimmune thyroid and endocrine diseases
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.
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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