Autoimmune polyglandular syndrome (APS)

Symptoms vary depending on the organs affected and the type of autoimmune polyglandular syndrome:

• APS I: oral thrush, diaper rash, cramping, spasms, weakness, diarrhea, nausea and vomiting, low blood pressure, and dehydration.
• APS II: frequent urination, extreme thirst, constant hunger, weight loss, itching of the skin, changes in vision, low blood pressure, severe dehydration, enlarged thyroid gland in the neck, dull facial expression, puffiness and swelling around the eyes, and drooping eyelids.
• APS III: puffy face, fatigue, enlarged thyroid gland in neck, puffiness and swelling around the eyes, drooping eyelids, weakness, extreme hunger, blurry vision, weight loss, shortness of breath, pins and needles sensations, patchy loss of skin color, and hair loss.

People with autoimmune polyglandular syndrome frequently have additional autoimmune diseases, including type 1 diabetes, Graves’ disease, Hashimoto’s thyroiditis, Addison’s disease, vitiligo, alopecia areata, hypogonadism, autoimmune liver disease, and pernicious anemia.

Genetics plays an important role in the development of autoimmune polyglandular syndromes, although the genes involved differ by syndrome. APS type 1 is caused by mutations in the AIRE gene, whereas APS types 2 and 3 are associated with multiple genetic and immune-related factors, including certain human leukocyte antigen (HLA) genes. APS types 2 and 3 occur more frequently in females, while APS type 1 affects males and females equally.

Estimating the prevalence of autoimmune polyglandular syndromes is challenging because they represent a group of related disorders rather than a single disease. APS type 1 is very rare and typically begins in childhood, while APS type 2 is the most common form in adults. The prevalence of other forms, including APS type 3, is less well established because classification criteria vary across studies.