Searchable abstracts of presentations at key conferences in endocrinology
Endocrine Abstracts (2022) 81 S21.1 | DOI: 10.1530/endoabs.81.S21.1

ECE2022 Symposia Autoimmune polyendocrine syndromes (3 abstracts)

Autoimmunity in families with Addison’s disease

Marta Fichna


Poznan University of Medical Sciences, Poland


Since individuals with autoimmune Addison’s disease (AD) present considerable co-occurrence of other autoimmune conditions, clustering of autoimmunity was also predicted among their relatives. We aimed to evaluate the burden of autoimmunity in families of patients with AD by means of a survey, serum autoantibody testing and correlating these data with the established genetic risk factors (PTPN22 rs2476601, CTLA4 rs231775, and BACH2 rs3757247). 74.1% patients reported relative(s) with autoimmunity, and, inversely, 11.9% surveyed relatives, especially first-degree female family members, declared an autoimmune disease, most frequently Hashimoto’s thyroiditis, followed by Graves’ disease, vitiligo, and type 1 diabetes. Psoriasis, rheumatoid arthritis, pernicious anaemia, multiple sclerosis, and premature menopause were also quite common, while AD, alopecia, and celiac disease – less frequent. Significant correlation was noticed between the number of autoimmune conditions in AD proband and the number of affected relatives (P=0.031). Endocrine gland-specific serum autoantibodies were detectable in 39.8% first-degree relatives of patients with AD, including asymptomatic subjects. Antibodies to 21-hydroxylase were found in 6.2% relatives, thyroid peroxidase in 28.3%, thyroglobulin in 19.5%, glutamic acid decarboxylase in 8.0%, zinc transporter-8 in 7.1%, and islet antigen-2 in 2.6%. Autoantibodies were significantly more frequent in families of male patients (P=0.008; OR 3.31; 95% CI 1.334-8.234) and patients with polyglandular autoimmunity (P=0.009; OR 3.545; 95%CI 1.313-9.573). Autoimmunity-related genetic polymorphisms occurred more frequently among Addison’s families vs controls (all P<0.05), and PTPN22 rs2476601 was associated with all autoantibody prevalence, except for IA-2. In conclusion, there is convincing evidence of increased susceptibility for autoimmune endocrine conditions, especially thyroid disease, in the relatives of patients with AD, predominantly in females. Relatives of the male AD patients and of those with polyendocrine autoimmune AD are at particular risk and should undergo periodic screening for autoimmune endocrine disorders.

Volume 81

European Congress of Endocrinology 2022

Milan, Italy
21 May 2022 - 24 May 2022

European Society of Endocrinology 

Browse other volumes

Article tools

My recent searches

No recent searches.

My recently viewed abstracts