Autoimmunity and genetics as they relate to hormone disease
Autoimmune polyglandular syndromes
| APS-1 (APECED) | APS-2 (Schmidt) | |
|---|---|---|
| Genetics | Monogenic - AIRE, autosomal recessive | Polygenic, HLA-associated |
| Onset | Infancy / early childhood | Late childhood to adulthood (peak 20-40y) |
| Sex | M = F | F > M (~3:1) |
| Triad | Chronic mucocutaneous candidiasis + hypoparathyroidism + Addison's (HAM) | Addison's + autoimmune thyroid disease + type 1 diabetes |
| Hypoparathyroidism | Yes - characteristic | No |
| Candidiasis | Yes - usually the first feature | No |
- APS-1 diagnosis: any 2 of the triad (or 1 plus an affected sibling)
- APS-2 is far commoner than APS-1
- If you see hypoparathyroidism with adrenal insufficiency, it is APS-1. If you see thyroid disease with adrenal insufficiency, it is APS-2
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