Autoimmune polyendocrine syndrome overview

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief:

Overview

Historical Perspective

In 19th century physicians first focussed their attention on constellation of symptoms associated with autoimmune polyendocrine syndrome. In 1855, Thomas Addison identified patients with Addison's disease who also appeared to have coexisting pernicious anemia. In 1956, Roitt and Doniach found that patients with Hashimoto's thyroiditis had circulating autoantibodies reacting with thyroid gland. In 1980, Neufeld and Blizzard first developed the classification for polyglandular failure and in 1982 categorised autoimmune polyendocrine syndrome into type 1 and type 2.

Classification

On the basis of organ involvement, autoimmune polyendocrine syndrome (APS) can be classified into APS type 1, APS type 2 and APS type 3. APS type 1 commonly presents with mucocutaneous candidiasis, hypoparathyroidism and Addison's disease. APS type 2 commonly presents with Addison's disease, autoimmune thyroiditis and diabetes mellitus type 1. APS type 3 commonly presents with autoimmune thyroiditis, diabetes mellitus type 1 and pernicious anemia.

Pathophysiology

Autoimmune polyendocrine syndrome (APS) are a group of autoimmune disorders against multiple (poly) endocrine organs, although non endocrine organs may be affected. Autoimmune polyendocrine syndrome is also known as polyglandular autoimmune syndrome and polyendocrine autoimmune syndrome. In autoimmune polyendocrine syndrome there is loss of self tolerance and the immune system attacks various endocrine and nonendocrine organs throughout the body. APS is seen in genetic susceptible individuals who when exposed to certain environmental triggers (such as infection) leads to autoimmunity. The involvement of endocrine glands can be simultaneous or sequential. The autoimmune reaction can either be humoral or cell mediated which may lead to partial or complete destruction of the tissue involved. The common endocrine glands involved are parathyroids, adrenals, thyroid, and pancreas. However any other non endocrine gland/tissue of the body may be involved.

Causes

Common causes of autoimmune polyendocrine syndrome include mutation in AIRE gene, FOXP3 gene and certain HLA alleles such as DR3/DQ2, DR4/DQ8 and DRB1*0404.

Differentiating ((Page name)) from Other Diseases

Epidemiology and Demographics

Autoimmune polyendocrine syndrome (APS) are a group of rare autoimmune disorders. APS type 2 is the most commonly seen autoimmune polyendocrine syndrome. The incidence of APS type 2 is estimated to be 1-2 per 100,000 individuals worldwide. The prevalence of APS type 2 is estimated to be 1-4 per 100,000 individuals worldwide. Most cases of APS type 1 and type 2 are symptomatic by early thirties, while APS type 3 is generally seen in 40-60 years of age. APS usually affects individuals of the caucasian race. In APS type 1, type 2 and type 3 females are more commonly affected than men.

Risk Factors

There are no established risk factors for autoimmune polyendocrine syndrome. However, patients with single autoimmune disorder are at an increased risk of having another autoimmune disorder. Any autoimmune endocrine disorder such as Addison's disease, type 1 diabetes mellitus, autoimmune thyroiditis, hypogonadism (usually autoimmune oophoritis), vitiligo, pernicious anemia, chronic atrophic gastritis, chronic active hepatitis puts the patient at an increased risk of autoimmune polyendocrine syndrome.

Screening

Screening is an important aspect in early diagnosis and management of autoimmune polyendocrine syndrome (APS). The onset of APS is often with a single endocrine disorder and the subsequent involvement of other endocrine/non-endocrine organs may take up to years or decades. In patients of APS, high clinical suspicion should be maintained for presence of other autoimmune disorders. Once a patient has been diagnosed with a single autoimmune endocrine disorder, screening should be done for presence of other auto-antibodies such as 21- hydroxylase or 17-hydroxylase.

Natural History, Complications, and Prognosis

Diagnosis

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Physical Examination

Laboratory Findings

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Treatment

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Primary Prevention

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