Autoimmune Polyendocrine Syndrome

Also known as: APS 1, autoimmune polyglandular syndrome, polyglandular autoimmune syndrome.

What is autoimmune polyendocrine syndrome?

The endocrine system is composed of several glands that produce hormones (endocrine glands) essential to human function. An autoimmune disorder is one in which the body’s immune system mistakenly attacks its own organs and tissues. When this autoimmune reaction attacks many of the body’s tissues and endocrine glands the condition is known autoimmune polyendocrine syndrome. It is rare, it affects girls more often than boys and seems to be limited to particular ethnic groups (Fins, Sardinians, Iranian Jews, and parts of northern Italy, Britain and Europe). There are two types; Types 1 and 11 (which usually occurs in adults 30-40 years of age).

What causes autoimmune polyendocrine syndrome? 

Ap-1 is an autosomal recessive genetic disorder (both parents involved) caused by a large number of mutations in a gene (AIRE) that regulates the body’s immune system.

What are the symptoms of autoimmune polyendocrine syndrome? 

Symptoms and side-effects vary widely depending on what form of autoimmune polyendocrine syndrome is present and which tissues and glands (the adrenals and parathyroid are common) are affected. Affected children will usually have at least two of the following; a recurring fungal infection of the skin, nails and mucous membranes; poor function of the parathyroid glands with resulting low parathyroid hormone and tingling in fingertips, ties and lips, muscle aches and fatigue; and/or adrenal insufficiency with low cortisol production giving rise to weakness, muscle cramps, nausea, vomiting, diarrhoea, low blood pressure and dehydration.

What are autoimmune polyendocrine syndrome care options? 

Treatment varies widely depending on the abnormalities present; typically it includes hormone replacement therapy and antifungal medications. 

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 3/23/2018 2:11:00 PM

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