Autoimmune polyendocrine syndromes (APS)

Definition

Autoimmune polyendocrine syndromes (APS) are a group of rare disorders characterized by the immune system attacking multiple endocrine glands. This can lead to various hormonal imbalances and associated diseases.

5 Must Know Facts For Your Next Test

1. APS is classified into APS-1 and APS-2 based on the specific endocrine glands affected and genetic factors.
2. APS-1 typically manifests in childhood, while APS-2 generally appears in adulthood.
3. Common organs affected include the thyroid, adrenal glands, and pancreas.
4. Genetic mutations in the AIRE gene are linked to APS-1, while HLA genes are implicated in APS-2.
5. Diagnosis often involves identifying characteristic clinical features and confirming through genetic testing or antibody screening.

Review Questions

• What are the primary differences between APS-1 and APS-2?
• Which gene mutation is commonly associated with APS-1?
• Name three endocrine glands that can be affected by autoimmune polyendocrine syndromes.

Related terms

Addison's Disease: A disorder where the adrenal glands do not produce sufficient steroid hormones.

Type 1 Diabetes:

An autoimmune condition where the immune system attacks insulin-producing beta cells in the pancreas.

Hashimoto's Thyroiditis:

An autoimmune disorder where the immune system attacks the thyroid gland, leading to hypothyroidism.