Autoimmune polyendocrine syndrome differential diagnosis

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief:

Overview

Autoimmune polyendocrine syndrome (APS) must be differentiated from other similar conditions which lead to multiple endocrine disorders such as thymoma, Kearns–Sayre syndrome, POEMS syndrome, and Wolfram syndrome. APS should also be differentiated among its subtypes such as APS type 1, type 2 and type 3.

Differentiating X from other Diseases

Autoimmune polyendocrine syndrome must be differentiated among its subtype. The following table characterises the difference among various subtypes of APS.

Characterstic	Autoimmune polyendocrine syndrome type 1	Autoimmune polyendocrine syndrome type 2	Autoimmune polyendocrine syndrome type 3
Inheritance	Autosomal recessive	Autosomal dominant	X-linked
Gene(s) involved	AIRE (transcription factor)	Polygenic	FOXP3 (transcription factor)
HLA genptype	HLA-D3 and HLA-D4	HLA-DQ2 and HLA-DQ8; HLA-DRB1*0404	None
Pathogenesis	Autoreactive T cells escape negative selection	Unknown	Defective T cell regulation leading to T cell activation and proliferation
Age of onset	Infancy	Infancy and adulthood	Neonatal
Clinical features (most common)	Candidiasis Hypoparathyroidism Addison’s disease	Addison’s disease Diabetes mellitus type 1A Autoimmune thyroiditis	Autoimmune thyroiditis Neonatal diabetes Malabsorption
Diabetes	18%	20-50%	>60%
Other manifestations	Hepatitis, malabsorption, asplenism, oophoritis, alopecia and vitiligo	Autoimmune gastritis, celiac disease, oophoritis and vitiligo	Autoimmune thyroiditis, haemolytic anemia, thrombocytopenia and lymphadenopathy
Gender predisposition	Equal in males and females	Females>males	Males (X-linked)
Immunodeficiency	Immunodeficienct	No defined immunodeficiency	Immunodeficienct
Prevalence	Rare	Common	Very rare

Autoimmune polyendocrine syndrome (APS) must be differentiated from other similar conditions which lead to multiple endocrine disorders such as POEMS syndrome, Hirata syndrome, Kearns–Sayre syndrome and Wolfram syndromes.

Disease	Addison's disease	Type 1 diabetes mellitus	Hypothyroidism	Other disorders present
APS type 1	+	Less common	Less common	Hypoparathyroidism Candidiasis Hypogonadism
APS type 2	+	+	+	Hypogonadism Malabssobtion
APS type 3	-	+	+	Malabsortion
Thymoma	+		+	Myasthenia gravis Cushing syndrome
Kearns–Sayre syndrome		+		Myopathy Hypoparathyroidism Hypogonadism
Wolfram syndrome		+		Diabetes insipidus Optic atrophy Deafness
POEMS syndrome		+		Polyneuropathy Hypogonadism Plasma cell dyscrasis