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

Thomsen, Hauke LU orcid ; Li, Xinjun LU ; Sundquist, Kristina LU ; Sundquist, Jan LU ; Försti, Asta LU and Hemminki, Kari LU (2020) In Endocrine Connections 9(11). p.1114-1120
Abstract

DESIGN: Addison disease (AD) is a rare autoimmune disease (AID) of the adrenal cortex, presenting 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. 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.... (More)

DESIGN: Addison disease (AD) is a rare autoimmune disease (AID) of the adrenal cortex, presenting 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. 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 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 to 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.

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author
; ; ; ; and
organization
publishing date
type
Contribution to journal
publication status
published
subject
keywords
Adrenal cortex, Autoimmune polyendocrine syndrome, Discordant risks, Familial autoimmune disease, Polyautoimmunity, Sibling risk
in
Endocrine Connections
volume
9
issue
11
pages
7 pages
publisher
BioScientifica
external identifiers
  • scopus:85098243351
  • pmid:33112839
ISSN
2049-3614
DOI
10.1530/EC-20-0328
language
English
LU publication?
yes
id
41413ce2-26f7-4c30-8e07-94d179d9e738
date added to LUP
2020-11-26 13:42:47
date last changed
2024-05-01 21:54:38
@article{41413ce2-26f7-4c30-8e07-94d179d9e738,
  abstract     = {{<p>DESIGN: Addison disease (AD) is a rare autoimmune disease (AID) of the adrenal cortex, presenting 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. We aimed to carry out an unbiased study on AD and related AIDs.</p><p>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.</p><p>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 syndrome.</p><p>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 to 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.</p>}},
  author       = {{Thomsen, Hauke and Li, Xinjun and Sundquist, Kristina and Sundquist, Jan and Försti, Asta and Hemminki, Kari}},
  issn         = {{2049-3614}},
  keywords     = {{Adrenal cortex; Autoimmune polyendocrine syndrome; Discordant risks; Familial autoimmune disease; Polyautoimmunity; Sibling risk}},
  language     = {{eng}},
  month        = {{10}},
  number       = {{11}},
  pages        = {{1114--1120}},
  publisher    = {{BioScientifica}},
  series       = {{Endocrine Connections}},
  title        = {{Familial associations for Addison’s disease and between Addison’s disease and other autoimmune diseases}},
  url          = {{http://dx.doi.org/10.1530/EC-20-0328}},
  doi          = {{10.1530/EC-20-0328}},
  volume       = {{9}},
  year         = {{2020}},
}