What are the other Names for this Condition? (Also known as/Synonyms)

• Multiple Endocrine Deficiency Syndrome, Type 2
• Polyglandular Deficiency Syndrome Type 2
• Schmidt's Syndrome

What is Autoimmune Polyglandular Syndrome Type 2? (Definition/Background Information)

• Autoimmune Polyglandular Syndrome Type 2 is an autoimmune disorder that affects many hormone-producing (endocrine) glands
• This condition is characterized by the presence of Addison's disease along with autoimmune thyroid disease and/or type 1 diabetes. Affected individuals may also have problems with other endocrine glands
• Autoimmune Polyglandular Syndrome Type 2 is diagnosed in adulthood, typically around age 30
• This condition occurs more often in women than men, and treatment primarily involves hormone replacement therapy
• The cause of Autoimmune Polyglandular Syndrome Type 2 is unknown, although it may involve a combination of genetic and environmental factors

(Source: Autoimmune Polyglandular Syndrome Type 2; Genetic and Rare Diseases Information Center (GARD) of National Center for Advancing Translational Sciences (NCATS), USA.)

Who gets Autoimmune Polyglandular Syndrome Type 2? (Age and Sex Distribution)

• Autoimmune Polyglandular Syndrome Type 2 is a rare disorder with manifestation in young adults (usually by age 30 years)
• Females have a higher predilection for the syndrome than males
• The condition may be observed worldwide

What are the Risk Factors for Autoimmune Polyglandular Syndrome Type 2? (Predisposing Factors)

• Some research scientists believe that a positive family history may be a risk factor for Autoimmune Polyglandular Syndrome Type 2
• Currently, no risk factors have been clearly identified for this autoimmune condition

It is important to note that having a risk factor does not mean that one will get the condition. A risk factor increases one’s chances of getting a condition compared to an individual without the risk factors. Some risk factors are more important than others.

Also, not having a risk factor does not mean that an individual will not get the condition. It is always important to discuss the effect of risk factors with your healthcare provider.

What are the Causes of Autoimmune Polyglandular Syndrome Type 2? (Etiology)

• While the cause of Autoimmune Polyglandular Syndrome Type 2 is not fully understood, it usually results from an autoimmune reaction, probably triggered by a virus or other environmental antigen
• There is some evidence of an association between diabetes or hypothyroidism and congenital rubella infection
• Other cases may result from immune stimulation caused by certain dietary proteins
• Genetic susceptibility and idiopathic immunopathologic dysfunction may also play a role.
• Although most cases of Autoimmune Polyglandular Syndrome Type 2 are sporadic, some clinical researchers believe that there is a familial or hereditary trait associated with it. Genetic factors, perhaps related to HLA subtypes, appear to increase susceptibility to this condition

In addition, several different types of inheritance (autosomal recessive, autosomal dominant, multifactorial) have been reported, suggesting that it may involve a complex interaction among many genes. There have been several reports of multiple family members with one or more endocrine deficiencies. 

(Source: Autoimmune Polyglandular Syndrome Type 2; Genetic and Rare Diseases Information Center (GARD) of National Center for Advancing Translational Sciences (NCATS), USA.)

What are the Signs and Symptoms of Autoimmune Polyglandular Syndrome Type 2?

The signs and symptoms of Autoimmune Polyglandular Syndrome Type 2 may include the following:

• This condition is characterized by the presence of Addison's disease along with autoimmune thyroid disease and/or type 1 diabetes
• The affected individuals may also have problems with other endocrine glands

(Source: Autoimmune Polyglandular Syndrome Type 2; Genetic and Rare Diseases Information Center (GARD) of National Center for Advancing Translational Sciences (NCATS), USA.)

How is Autoimmune Polyglandular Syndrome Type 2 Diagnosed?

Autoimmune Polyglandular Syndrome Type 2 is diagnosed on the basis of the following information:

• Complete physical examination
• Thorough medical history evaluation
• Assessment of signs and symptoms
• Laboratory tests
• Imaging studies
• Biopsy studies, if necessary

Many clinical conditions may have similar signs and symptoms. Your healthcare provider may perform additional tests to rule out other clinical conditions to arrive at a definitive diagnosis.

What are the possible Complications of Autoimmune Polyglandular Syndrome Type 2?

The complications of Autoimmune Polyglandular Syndrome Type 2 may include:

• Emotional stress
• Decreased quality of life in some

Complications may occur with or without treatment, and in some cases, due to treatment also.

How is Autoimmune Polyglandular Syndrome Type 2 Treated?

There is no cure for Autoimmune Polyglandular Syndrome Type 2, since the cause is generally unknown. The treatment is usually given to manage the signs and symptoms and any complications that develops.

How can Autoimmune Polyglandular Syndrome Type 2 be Prevented?

Currently, Autoimmune Polyglandular Syndrome Type 2 may not be preventable.

• In case of a family history of the condition, genetic testing of the expecting parents (and related family members) and prenatal diagnosis (molecular testing of the fetus during pregnancy) may help in understanding the risks better during pregnancy
• In such cases, genetic counseling will help assess risks, before planning for a child
• Active research is currently being performed to explore the possibilities for treatment and prevention of inherited and acquired genetic disorders

Regular medical screening at periodic intervals with tests and physical examinations are recommended.

What is the Prognosis of Autoimmune Polyglandular Syndrome Type 2? (Outcomes/Resolutions)

• The prognosis of Autoimmune Polyglandular Syndrome Type 2 is dependent upon the severity of the signs and symptoms and associated complications, if any
• Individuals with mild conditions have better prognosis than those with severe symptoms and complications
• Typically, the prognosis may be assessed on a case-by-case basis

Additional and Relevant Useful Information for Autoimmune Polyglandular Syndrome Type 2:

Autoimmune Polyglandular Syndrome Type 2 is also known by the following names: 

• Autoimmune Polyendocrine Syndrome Type 2 (APS2)
• Diabetes Mellitus, Addison's Disease, and Myxedema
• PGA2 (Polyglandular Autoimmune Syndrome Type 2
• Schmidt Syndrome

The following DoveMed website link is a useful resource for additional information:

http://www.dovemed.com/diseases-conditions/rare-disorders/