Autoimmune polyendocrine syndrome diagnostic study of choice

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

Overview

The diagnosis of [disease name] is made when at least [number] of the following [number] diagnostic criteria are met: [criterion 1], [criterion 2], [criterion 3], and [criterion 4].

OR

The diagnosis of [disease name] is based on the [criteria name] criteria, which include [criterion 1], [criterion 2], and [criterion 3].

OR

The diagnosis of [disease name] is based on the [definition name] definition, which includes [criterion 1], [criterion 2], and [criterion 3].

OR

There are no established criteria for the diagnosis of [disease name].

Diagnostic Criteria

• The diagnosis of [disease name] is made when at least [number] of the following [number] diagnostic criteria are met:
  • [criterion 1]
  • [criterion 2]
  • [criterion 3]
  • [criterion 4]
• The diagnosis of [disease name] is based on the [criteria name] criteria, which include
  • [criterion 1]
  • [criterion 2]
  • [criterion 3]
• The diagnosis of [disease name] is based on the [definition name] definition, which includes
  • [criterion 1]
  • [criterion 2]
  • [criterion 3]

OR

• There are no established criteria for the diagnosis of APS type 1. However, the diagnosis of APS-1 is usually made with two or three of the following conditions:
• Mucocutaneous candidiasis,
• Hypoparathyroidism and/or adrenal insufficiency
• Autoantibodies against CYP450c21, 21 hydroxylase.

An important

Since the different components of disease develop over years to decades, surveillance is mandatory for other associated autoimmune disorders. Especially under the age of 30 years surveillance is suggested if more than one of the following conditions is identified: chronic or recurring mucocutaneous candidiasis, hypoparathyroidism, adrenal insufficiency, chronic gastrointestinal disease characterized by obstipation, diarrhea or steatorrhea, vitiligo, alopecia, keratoconjunctivitis or urticaria-like erythema [17]. Consideration for AIRE gene mutational analysis should be entertained (if possible) in the presence of those associations. Usually, sudden hypercalcemia in hypoparathyroid individuals may signal the beginning of adrenal insufficiency [18]. Symptoms of diarrhea, malabsorption with failure to thrive in children and/or obstipation may be identified. These symptoms may be due to the underlying endocrine disease (e.g. diarrhea with the hypocalcemia of hypoparathyroidism) or may be a manifestation of a new disorder.