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

[Disease name] must be differentiated from other diseases that cause [clinical feature 1], [clinical feature 2], and [clinical feature 3], such as [differential dx1], [differential dx2], and [differential dx3].

OR

[Disease name] must be differentiated from [[differential dx1], [differential dx2], and [differential dx3].

Differentiating X from other Diseases

• Autoimmune polyendocrine syndrome must be differentiated from other diseases that can cause endocrine insufficiency.

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	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 [clinical feature 1], [clinical feature 2], and [clinical feature 3], such as [differential dx1], [differential dx2], and [differential dx3].

• [Disease name] must be differentiated from [[differential dx1], [differential dx2], and [differential dx3].

• As [disease name] manifests in a variety of clinical forms, differentiation must be established in accordance with the particular subtype. [Subtype name 1] must be differentiated from other diseases that cause [clinical feature 1], such as [differential dx1] and [differential dx2]. In contrast, [subtype name 2] must be differentiated from other diseases that cause [clinical feature 2], such as [differential dx3] and [differential dx4].

Preferred Table

Diseases	Laboratory Findings				Physical Examination				History and Symptoms				Other Findings
	Lab Test 1	Lab Test 2	Lab Test 3	Lab Test 4	Physical Finding 1	Physical Finding 2	Physical Finding 3	Physical Finding 4	Finding 1	Finding 2	Finding 3	Finding 4
Differential Diagnosis 1			+
Differential Diagnosis 2	↑			-
Differential Diagnosis 3		↓
Differential Diagnosis 4
Differential Diagnosis 5