4th April 2024

Autoimmune polyendocrinopathy syndrome

Type 1 autoimmune polyendocrinopathy syndrome, also known as ‘autoimmune polyglandular syndrome’, is a rare autosomal recessive condition associated with autoimmune adrenalitis (Addison’s disease), chronic mucocutaneous candidiasis and primary hypoparathyroidism. There is an increased prevalence amongst people from Finland, Sardinia and Iranian Jews. 

Type 2 autoimmune polyendocrinopathy syndrome, also known as Schmidt’s disease, is more prevalent and has several modes of inheritance, including autosomal recessive, polygenic and autosomal dominant. This syndrome encompasses Addison’s disease, autoimmune thyroid disease, and Type 1 diabetes mellitus. Adrenal insufficiency is the initial presentation in around 50% of patients.