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 autoimmune polyendocrine syndrome(APS) type 1 is made when at least 2 of the following 3 conditions are present:
  • Mucocutaneous candidiasis
  • Hypoparathyroidism
  • Adrenal insufficiency

• 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 point worth mentioning in APS type 1, is that the symptoms develop over the course of years and decades. Thus in patients having autoimmune disorders of two more organs suggestive of APS type 1 should undergo regular screening to identify other associated conditions. Suspected patients can also be tested for AIRE gene mutation.