Aggregation of autoimmunity in extended families of people with autoimmune Addison disease

Fichna, Marta; Małecki, Piotr; Gębarski, Bolesław; Gębarska, Helena; Ruchała, Marek

doi:10.1111/imj.15337

Cited by 4 publications

(2 citation statements)

References 27 publications

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“…Recently, we and others have also confirmed increased risk for autoimmune disorders in families of patients with autoimmune adrenal insufficiency, i.e. Addison's disease (AD) (3,4). Patients suffering from AD display extreme predisposition to other autoimmune disorders and more than half of them present with additional autoimmune diseases (5)(6)(7).…”

Section: Introductionmentioning

confidence: 92%

Genetic variants and risk of endocrine autoimmunity in relatives of patients with Addison’s disease

Fichna

Małecki

Żurawek

et al. 2023

Endocrine Connections

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Since individuals with Addison’s disease (AD) present considerable co-occurrence of additional autoimmune conditions, clustering of autoimmunity was also predicted among their relatives. The study was aimed to evaluate circulating autoantibodies in first-degree relatives of patients with AD and to correlate them with the established genetic risk factors (PTPN22 rs2476601, CTLA4 rs231775, and BACH2 rs3757247). Antibodies were evaluated using validated commercial assays and genotyping was performed with TaqMan chemistry. The studied cohort comprised 112 female and 75 male relatives. Circulating autoantibodies were found in 69 relatives (36.9%). Thyroid autoantibodies, aTPO and aTg were detectable in 25.1% and 17.1% relatives, respectively. Antibodies to 21-hydroxylase (a21OH) were found 5.8% individuals, and beta cell-specific antibodies to ZnT8, GAD and IA2 – in 7.5%, 8.0% and 2.7%, respectively. The prevalence of a21OH (p=0.0075; OR 7.68; 95% CI 1.903-36.0), aTPO (p<0.0001; OR 3.85; 95%CI 1.873-7.495) and aTg (p<0.0001; OR 7.73; 95% CI 3.112-19.65), as well as aGAD (p=0.0303; OR 3.38; 95% CI 1.180-9.123) and aZnT8 (p=0.032; OR 6.40; 95% CI 1.846-21.91) was significantly increased in carriers of rs2476601 T allele. Moreover, T allele appeared to be risk factor for multiple circulating autoantibody specificities (p=0.0009; OR 5.79; 95% CI 1.962-15.81). None of the studied autoantibodies demonstrated significant association with rs231775 in CTLA4 (p<0.05), and only weak association was detected between BACH2 rs3757247 and circulating aTPO (p=0.0336; OR 2.12; 95%CI 1.019-4.228). In conclusion, first-degree relatives of patients with AD, carriers of the PTPN22 rs2476601 T allele, are at particular risk of developing autoantibodies to the endocrine antigens.

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Section: Introductionmentioning

confidence: 92%

Genetic variants and risk of endocrine autoimmunity in relatives of patients with Addison’s disease

Fichna

Małecki

Żurawek

et al. 2023

Endocrine Connections

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“…A correlation between the number of autoimmune comorbidities in one subject with AD and the number of affected relatives was confirmed (p = 0.031); also, female sex was more affected in first-and second-degree relatives. 114 International Journal of General Medicine 2023:16 https://doi.org/10.2147/IJGM.S390793…”

Section: New Insights Of Distinct Entities In Addison's Diseasementioning

confidence: 99%

Addison’s Disease: Diagnosis and Management Strategies

Cârșote¹,

Nistor²

2023

IJGM

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We aim to overview Addison’s disease (AD) with regard to current diagnosis and management. This is a narrative review of full-length articles published in English between January 2022 and December 2022 (including online ahead of print versions) in PubMed-indexed journals. We included original studies in living humans regardless of the level of statistical significance starting from the key search terms “Addison’s disease” or “primary adrenal insufficiency” in title or abstract. We excluded articles with secondary adrenal insufficiency. Briefly, 199 and 355 papers, respectively were identified; we manually checked each of them, excluded the duplicates, and then selected 129 based on their clinical relevance in order to address our 1-year analysis. We organized the data in different subsections covering all published aspects on the subject of AD. To our knowledge, this is the largest AD retrospective from 2022 on published data. A massive role of genetic diagnosis especially in pediatric cases is highlighted; the importance of both pediatric and adult awareness remains since unusual presentations continue to be described. COVID-19 infection is a strong player amid this third year of pandemic although we still not do have large cohorts in this particular matter as seen, for instance, in thyroid anomalies. In our opinion, the most important topic for research is immune checkpoint inhibitors, which cause a large panel of endocrine side effects, AD being one of them.

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From Multiple Sclerosis to Organ-Specific Autoimmune Disorders: Insights into the Molecular and Clinical Implications of Comorbidity

Zabihi,

Zangooie,

Piroozkhah

et al. 2024

Mol Neurobiol

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Aggregation of autoimmunity in extended families of people with autoimmune Addison disease

Cited by 4 publications

References 27 publications

Genetic variants and risk of endocrine autoimmunity in relatives of patients with Addison’s disease

Genetic variants and risk of endocrine autoimmunity in relatives of patients with Addison’s disease

Addison’s Disease: Diagnosis and Management Strategies

From Multiple Sclerosis to Organ-Specific Autoimmune Disorders: Insights into the Molecular and Clinical Implications of Comorbidity

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