Investigations in endocrinology

Investigating autoimmune polyendocrine syndromes

Divya Namboodiri, Hui Yi Ng, Bernard Champion, Veronica Preda

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© viktoriia/sttock.adobe.com model used for illustrative purposes only

Abstract

Case scenarios are used in this section to educate doctors on the best approach to the diagnosis and management of patients with different endocrine problems. The appropriate selection of tests and correct interpretation of test results are discussed.

Article Extract

Autoimmune polyendocrine syndromes (APS) are a group of immune endocrinopathies, characterised by functional impairment of multiple endocrine glands due to loss of immune tolerance.1 They can also result in various nonendocrine immune disorders such as alopecia, coeliac disease, vitiligo, autoimmune gastritis and pernicious anaemia.1 They are characterised by circulating antibodies and lymphocytic infiltration of the affected organs, which eventually lead to organ failure.1 Risk of developing the component autoimmune diseases is influenced by genetic susceptibility and environmental factors. Discrete genes may be involved including the autoimmune regulator gene, AIRE, and fork-head box P3 gene, FOXP3. There is variation in presentation and symptoms, which can make diagnosis difficult. Diagnosis requires coexistence of at least two autoimmune endocrinopathies.2

 

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© viktoriia/sttock.adobe.com model used for illustrative purposes only
© viktoriia/sttock.adobe.com model used for illustrative purposes only