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
Age of onset	Infancy	Infancy and adulthood	Neonatal
Clinical features	Candidiasis, Hypoparathyroidism Addison’s disease	Addison’s disease Diabetes mellitus type 1A Autoimmune thyroiditis	Neonatal diabetes Malabsorption
Diabetes	18%	20%	>50%
Immunodeficiency	Asplenism	None	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

Use if the above table can not be made

Differential Diagnosis	Similar Features	Differentiating Features
Differential 1	On [physical exam; history; diagnostic test; imaging], [Differential 1] {has; demonstrates} [feature 1], [feature 2], [feature 3] also observed in [disease name].	On [physical exam; history; diagnostic test; imaging], [Differential 1] {has; demonstrates} [feature 1], [feature 2], [feature 3] that distinguish it from [disease name].
Differential 2	On [physical exam; history; diagnostic test; imaging], [Differential 1] {has; demonstrates} [feature 1], [feature 2], [feature 3] also observed in [disease name].	On [physical exam; history; diagnostic test; imaging], [Differential 1] {has; demonstrates} [feature 1], [feature 2], [feature 3] that distinguish it from [disease name].
Differential 3	On [physical exam; history; diagnostic test; imaging], [Differential 1] {has; demonstrates} [feature 1], [feature 2], [feature 3] also observed in [disease name].	On [physical exam; history; diagnostic test; imaging], [Differential 1] {has; demonstrates} [feature 1], [feature 2], [feature 3] that distinguish it from [disease name].
Differential 4	On [physical exam; history; diagnostic test; imaging], [Differential 1] {has; demonstrates} [feature 1], [feature 2], [feature 3] also observed in [disease name].	On [physical exam; history; diagnostic test; imaging], [Differential 1] {has; demonstrates} [feature 1], [feature 2], [feature 3] that distinguish it from [disease name].
Differential 5	On [physical exam; history; diagnostic test; imaging], [Differential 1] {has; demonstrates} [feature 1], [feature 2], [feature 3] also observed in [disease name].	On [physical exam; history; diagnostic test; imaging], [Differential 1] {has; demonstrates} [feature 1], [feature 2], [feature 3] that distinguish it from [disease name].