Autoimmune polyglandular syndrome type 2

Author: Brian Wu, MD candidate, Keck School of Medicine, Los Angeles, USA. DermNet New Zealand Editor in Chief: Hon A/Prof Amanda Oakley, Dermatologist, Hamilton, New Zealand. December 2016.


Autoimmune polyglandular syndrome type 2
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Synonyms:
APS2, Schmidt syndrome, Polyendocrine syndrome type 2, APS type 2, Diabetes mellitus Addison's disease and myxoedema, Type 2 polyendocrine autoimmunity syndrome
Categories:
Autoimmune disorders
ICD-10-CM:
E31.0
ICD-11 MMS:
5B00
SNOMED CT:
83728000

What is autoimmune polyglandular syndrome type 2?

Autoimmune polyglandular syndrome type 2 (APS2) is the most common of the immunoendocrinopathy syndromes.

APS2 is also known as Schmidt syndrome.

Who gets autoimmune polyglandular syndrome type 2?

APS2 is inherited in an autosomal dominant pattern; that is, an abnormal gene from one parent can cause disease and this happens even when the matching gene from the other parent is normal. A parent with an autosomal dominant condition has a 50% chance of having a child with the condition.

  • APS2 is rare — it affects 14–20 people out of every million.
  • It is 3–4 times more common in women than in men.

What causes autoimmune polyglandular syndrome type 2?

Researchers theorise that APS2 develops when a person with genetic susceptibilities is exposed to an autoimmune trigger. Initially, autoimmune activity is asymptomatic. Progressive organ damage and inflammatory infiltration occur over time.

What are the clinical signs of autoimmune polyglandular syndrome type 2?

The clinical signs of APS2 include the signs of Addison disease, autoimmune thyroid disease and/or diabetes mellitus type 1 and most commonly appear in people aged 20–30 years.

The signs and symptoms of APS2 vary depending on the specific clinical manifestations seen in an individual; they may include:

    • Diabetes mellitus type 1 that can present with thirst, hunger, excessive urine production, weight loss and fatigue
    • Graves disease characterised by palpitations, intolerance to heat, decreased energy levels, anxiety, infrequent menstruation, weight loss and muscle weakness.
    • Hashimoto thyroiditis that can present with memory problems, myalgia, fatigue, weakness sleepiness, constipation and cold intolerance
    • Addison disease causing nausea and vomiting, loss of appetite, weight loss and fatigue
    • Pernicious anaemia that may present with pallor and tiredness
    • Coeliac disease presenting with abdominal pain and cramping, fatty bowel motions, and weight loss.
Skin signs of APS type 2

How is autoimmune polyglandular syndrome type 2 diagnosed?

APS2 is diagnosed in an individual who has multiple autoimmune endocrine diseases. Tests used to diagnose APS2 may include:

Other tests may include gonadotropin levels, thyroid tests (thyroid-stimulating hormone [TSH], triiodothyronine [T3] and thyroxine [T4]), plasma renin activity, serum electrolytes, fasting blood glucose and a complete blood count.

How is autoimmune polyglandular syndrome type 2 treated?

The treatment for APS2 depends upon which organs are affected, and may include:

What is the outlook for autoimmune polyglandular syndrome type 2?

The outlook for APS2 is variable and depends upon which specific organs or glands become affected by the syndrome.

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References

  • Betterle C, Lazzarotto F, Presotto F. Autoimmune polyglandular syndrome type 2: the tip of the iceburg? Clin Exp Immunol 2004; 137(2): 225–33. DOI: 10.1111/j.1365-2249.2004.02561.x. PubMed Central
  • Majeroni B, Patel P. Autoimmune polyglandular syndrome, type 2. A Am Fam Physician 2007; 75: 667–70. Journal
  • Sivarajah S; Medscape. Type II polyglandular autoimmune syndrome. 2014. Available at: http://emedicine.medscape.com/article/124287-overview (accessed July 2016).

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