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Autoimmune Polyglandular Syndromes (APS) - Types 1 & 2

Posted on Sep 26, 2017 12:41:34 PM by healtheo360

Autoimmune Polyglandular Syndromes (APS) - Types 1 & 2: APSs include a wide variety of autoimmune disorders that are divided into a very rare juvenile type 1, and a relatively common adult form type 2. There is also a third type that does not affect the adrenal glands. APS type 1 typically occurs in early childhood, while type 2 most often occurs in one's 30s or 40s. Type 1 is caused by mutations of the autoimmune regulatory (AIRE) gene on chromosome 21. It is inherited in a autosomal recessive manner, meaning both parents must be carriers and pass on the faulty gene in order for their child to be affected. The mutation results in the production of defective proteins which cause the autoimmune destruction of target organs. Type 1 can be diagnosed via genetic testing, but not type 2 since it is caused by complex genetic interactions. Check out this infographic to learn more about autoimmune polyglandular syndromes types 1 & 2:

autoimmune polyglandular syndromes (PAS)

 

Autoimmune Polyglandular Syndromes (APS) - Types 1 & 2: Associated Conditions

Type 1

Usually begins in childhood, and is defined by the presence of at least 2 of the following:

  • Chronic mucocutaneous candidiasis
  • Adrenal insufficiency (Addison disease)

*Age at onset: 3-5 years

 

Type 2

Usually occurs in adults and is 3x more common in women. It typically presents with the following:

  • Adrenal insufficiency

*Age at onset: 30 years (peak)

 

Autoimmune Polyglandular Syndromes (APS) - Types 1 & 2: Cause

Genetic Basis

Type 1

Caused in an autosomal recessive fashion. This means the affected child must inherit the mutated gene from both parents.

 

Type 2

Considered polygenic, so it likely involves a complex interaction between many genes.

 

Autoimmune Polyglandular Syndromes (APS) - Types 1 & 2: Diagnosis

Type 1

  • Endoscopy
  • CT scan
  • Serum endocrine autoantibody screen
  • Histologic test
  • Genetic testing

 

Type 2

  • CT scan
  • MRI
  • Ultrasound

 

Autoimmune Polyglandular Syndromes (APS) - Types 1 & 2: Treatment

Type 1

  • Hormone replacement
  • Systemic anti fungal treatment
  • Immunosuppressive treatment

 

Type 2

  • Immunosuppressive treatment
  • Isohormonal therapy
  • Glucocorticoids
  • Thyroid-stimulating hormone
  • Dietary guidelines

 

Autoimmune Polyglandular Syndromes (APS) - Types 1 & 2: Fast Facts

Type 1

APS type 1 is a very rare disorder. In the US, it affects as few as 1 in every 2-3 million newborns.

 

Type 2

APS type 2 affects 3-4x as many females as it does males.

 

 

Join Our Type 1 Diabetes  Private Support Group 

Sources:

rarediseases.org

www.merckmanuals.com

www.medicinenet.com

emedicine.medscape.com

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