Autoimmune polyglandular syndrome type 3

Other Names: Autoimmune polyendocrine syndrome type 3; APS3; Polyglandular autoimmune syndrome type 3; PAS3; Autoimmune polyglandular syndrome type III; PGA-III

Autoimmune polyglandular syndrome (APS) type 3 is an autoimmune condition that affects the body's endocrine glands. The syndrome, which typically affects women during middle age, results from failure of the glands to produce their hormones.

Types

There are three types of autoimmune polyglandular syndrome type 3: APS3A - Autoimmune thyroiditis with immune-mediated diabetes mellitu (IMDM) APS3B - Autoimmune thyroiditis with pernicious anemia APS3C - Autoimmune thyroiditis with vitiligo and/or alopecia and/or other organ-specific autoimmune disease

Cause

The cause is still unknown, but it is believed that it may be an autoimmune disease, where environmental factors (such as viral infections) and genetic factors (such as variations in the HLA II genes) are also involved in the disease.

Inheritance

In many cases more than one member of the same family is affected with PAS III, suggesting that its inheritance could be autosomal dominant, and therefore, familiar screening is recommended. It is very important that people with APS3 are monitored closely by their doctors for early detection of any glandular problems.

Signs and symptoms

This condition is characterized by autoimmune thyroiditis along with another organ-specific autoimmune disease. The other autoimmune diseases may include diabetes mellitus, pernicious anemia, vitiligo, alopecia, myasthenia gravis, and Sjogren's syndrome. The adrenal cortex (the outer layer of the adrenal gland) is not involved.

For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. 30%-79% of people have these symptoms

• Celiac disease
• Chronic atrophic gastritis
• Graves disease
• Hashimoto thyroiditis
• Macrocytic anemia
• Type I diabetes mellitus(Type 1 diabetes)

5%-29% of people have these symptoms

• Alopecia(Hair loss)
• Anterior pituitary dysgenesis
• Biliary cirrhosis
• Decreased circulating antibody level
• Leukopenia(Decreased blood leukocyte number)
• Vitiligo(Blotchy loss of skin color)

1%-4% of people have these symptoms

• Abnormal blistering of the skin(Blistering, generalized)
• Antiphospholipid antibody positivity
• Aplasia/Hypoplasia of the spleen(Absent/small spleen)
• Autoimmune hypoparathyroidism
• Autoimmune thrombocytopenia
• Central diabetes insipidus
• Hepatitis(Liver inflammation)
• Hypergonadotropic hypogonadism
• Interstitial pulmonary abnormality(Abnormality in area between air sacs in lung)
• Iridocyclitis
• Keratoconjunctivitis sicca(Dry eyes)
• Non-caseating epithelioid cell granulomatosis
• Osteopenia
• Rheumatoid arthritis
• Thymoma
• Tubulointerstitial nephritis
• Xerostomia(Dry mouth)

Diagnosis and treatment

Depends on which organ is effected. Treatment life-long fallow up and screening for another glandular failure in patients already diagnosed with PAS-3

NIH genetic and rare disease info

• NIH info on Autoimmune polyglandular syndrome type 3

Autoimmune polyglandular syndrome type 3 is a rare disease.