Autoimmune polyendocrinopathy syndrome

Autoimmune polyendocrinopathy syndrome

Addison's disease (autoimmune hypoadrenalism) is associated with other endocrine deficiencies in approximately 10% of patients. There are two distinct types of autoimmune polyendocrinopathy syndrome (APS), with type 2 (sometimes referred to as Schmidt's syndrome) being much more common.

APS type 2 has a polygenic inheritance and is linked to HLA DR3/DR4. Patients have Addison's disease plus either:

• type 1 diabetes mellitus
• autoimmune thyroid disease

APS type 1 is occasionally referred to as Multiple Endocrine Deficiency Autoimmune Candidiasis (MEDAC). It is a very rare autosomal recessive disorder caused by mutation of AIRE1 gene on chromosome 21

Features of APS type 1 (2 out of 3 needed)

• chronic mucocutaneous candidiasis (typically first feature as young child)
• Addison's disease
• primary hypoparathyroidism

Vitiligo can occur in both types

+PassMedicine Notes

Addison's disease (autoimmune hypoadrenalism) is associated with other endocrine deficiencies in approximately 10% of patients. There are two distinct types of autoimmune polyendocrinopathy syndrome (APS), with type 2 (sometimes referred to as Schmidt's syndrome) being much more common.

APS type 2 has a polygenic inheritance and is linked to HLA DR3/DR4. Patients have Addison's disease plus either:

• type 1 diabetes mellitus
• autoimmune thyroid disease

APS type 1 is occasionally referred to as Multiple Endocrine Deficiency Autoimmune Candidiasis (MEDAC). It is a very rare autosomal recessive disorder caused by mutation of AIRE1 gene on chromosome 21

Features of APS type 1 (2 out of 3 needed)

• chronic mucocutaneous candidiasis (typically first feature as young child)
• Addison's disease
• primary hypoparathyroidism

Vitiligo can occur in both types