Autoimmune polyendocrine syndrome type 2

Signs and symptoms

Signs and symptoms that are consistent in an individual affected with autoimmune polyendocrine syndrome type 2 are the following:

• Nausea
• Frequent urination
• Palpitations
• Weight loss
• Anorexia
• Low blood pressure
• Hypoparathyroidism
• Myalgias
• Hashimoto thyroiditis
• Graves' disease
• Anaemia
• Hypogonadism
• Diabetes mellitus

Genetics

In terms of genetics one finds that autoimmune polyendocrine syndrome type 2 has an autosomal dominant pattern of inheritance, with an incomplete penetrance. Furthermore, the human leukocyte antigen involved in this condition are HLA-DQ2(DR3 (DQB0201)) and HLA-DQ8(DR4 (DQB10302)), genetically speaking, which indicates this is a multifactorial disorder, as well.

Should any affected organs show chronic inflammatory infiltrate (lymphocytes), this would be an indication. Moreover, autoantibodies reacting to specific antigens is common, in the immune system of an affected individual.

Diagnosis

In terms of genetic testing, while it is done for type 1 of this condition, type 2 will only render (or identify) those genes which place the individual at higher risk. Other methods/exam to ascertain if an individual has autoimmune polyendocrine syndrome type 2 are:

• CT scan
• MRI
• Ultrasound

Treatment

Management of autoimmune polyendocrine syndrome type 2 consists of the following:

• Cyclosporin A
• Isohormonal therapy
• Glucocorticoids
• Thyroid-stimulating hormone
• Dietary guidelines(depending if diabetic/Addison d.)

History

The condition was recognized by Martin Benno Schmidt (1863 – 1949), a German pathologist, first described in 1926. A third subtype, PAS III, has been described in adults, but apart from the absence of adrenal failure, no clinical differences between types II and III have been described. Because of this, both of these subtypes are generally referred to as PAS II.

Society and culture

• U.S. President John F. Kennedy is presumed to have suffered from Autoimmune Polyendocrine Syndrome, Type II.

References

References

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2. Greenspan, Francis S.. (2004). "Basic clinical endocrinology". McGraw-Hill.
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4. "Type II Polyglandular Autoimmune Syndrome Clinical Presentation: History, Physical, Causes".
5. (April 2003). "Update on autoimmune polyendocrine syndromes (APS)". Acta Biomed.
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7. "OMIM Entry - % 269200 - AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE II; APS2".
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9. Weiss, Roy E.. (2016). "Genetic Diagnosis of Endocrine Disorders". Academic Press.
10. Betterle, C. (19 April 2017). "Autoimmune polyglandular syndrome Type 2: the tip of an iceberg?". Clinical and Experimental Immunology.
11. Eisenbarth, George S.. (2011). "Immunoendocrinology: Scientific and Clinical Aspects". Springer Science & Business Media.
12. Kahaly, George J.. (2003-07-01). "Polyglandular Autoimmune Syndromes: Immunogenetics and Long-Term Follow-Up". The Journal of Clinical Endocrinology & Metabolism.
13. Kahaly, George J.. (2009-07-01). "Polyglandular autoimmune syndromes". European Journal of Endocrinology.
14. Macchia, Donatella et al. "President John F Kennedy's medical history: coeliac disease and autoimmune polyglandular syndrome type 2." Postgraduate medical journal vol. 96,1139 (2020): 543-549. doi:10.1136/postgradmedj-2020-137722
15. Mandel, Lee R.. (2009). "Endocrine and Autoimmune Aspects of the Health History of John F. Kennedy". Annals of Internal Medicine.