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Familial associations for Addison's disease and between Addison's disease and other autoimmune diseases

H. Thomsen, X. Li, K. Sundquist, J. Sundquist, A. Försti, K. Hemminki,

. 2020 ; 9 (11) : 1114-1120. [pub] -

Jazyk angličtina Země Velká Británie

Typ dokumentu časopisecké články

Perzistentní odkaz   https://www.medvik.cz/link/bmc21001845

Design: Addison's disease (AD) is a rare autoimmune disease (AID) of the adrenal cortex, present as an isolated AD or part of autoimmune polyendocrine syndromes (APSs) 1 and 2. Although AD patients present with a number of AID co-morbidities, population-based family studies are scarce, and we aimed to carry out an unbiased study on AD and related AIDs. Methods: We collected data on patients diagnosed with AIDs in Swedish hospitals and calculated standardized incidence ratios (SIRs) in families for concordant AD and for other AIDs, the latter as discordant relative risks. Results: The number of AD patients was 2852, which accounted for 0.4% of all hospitalized AIDs. A total of 62 persons (3.6%) were diagnosed with familial AD. The SIR for siblings was remarkably high, reaching 909 for singleton siblings diagnosed before age 10 years. It was 32 in those diagnosed past age 29 years and the risk for twins was 323. SIR was 9.44 for offspring of affected parents. AD was associated with 11 other AIDs, including thyroid AIDs and type 1 diabetes and some rarer AIDs such as Guillain-Barre syndrome, myasthenia gravis, polymyalgia rheumatica and Sjögren's syndrome. Conclusions: The familial risk for AD was very high implicating genetic etiology, which for juvenile siblings may be ascribed to APS-1. The adult part of sibling risk was probably contributed by recessive polygenic inheritance. AD was associated with many common AIDs; some of these were known co-morbidities in AD patients while some other appeared to more specific for a familial setting.

Citace poskytuje Crossref.org

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$a Li, Xinjun $u Center for Primary Health Care Research, Lund University, Malmö, Sweden.
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$a Sundquist, Kristina $u Center for Primary Health Care Research, Lund University, Malmö, Sweden. Departments of Family Medicine and Community Health, Population Health Science and Policy, Icahn School of Medicine at Mount Sinai, New York, New York, USA. Center for Community-based Healthcare Research and Education (CoHRE), Department of Functional Pathology, School of Medicine, Shimane University, Shimane, Japan.
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$a Försti, Asta $u Division of Molecular Genetic Epidemiology, German Cancer Research Centre (DKFZ), Heidelberg, Germany. Center for Primary Health Care Research, Lund University, Malmö, Sweden. Hopp Children's Cancer Center (KiTZ), Heidelberg, Germany. Division of Pediatric Neurooncology, German Cancer Research Centre (DKFZ), German Cancer Consortium (DKTK), Heidelberg, Germany.
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$a Hemminki, Kari $u Division of Molecular Genetic Epidemiology, German Cancer Research Centre (DKFZ), Heidelberg, Germany. Center for Primary Health Care Research, Lund University, Malmö, Sweden. Division of Cancer Epidemiology, German Cancer Research Centre (DKFZ), Heidelberg, Germany. Faculty of Medicine and Biomedical Center in Pilsen, Charles University in Prague, Pilsen, Czech Republic.
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