What is Autoimmune Polyendocrine Syndrome Type 1 (APS1)?

Autoimmune Polyendocrine Syndrome Type 1 (APS1)
A. Abundant inflammatory infiltrations from lymphoid and plasmatic cells in portal-biliary spaces, necrosis of hepatocytes on peripheral hepatic lobules (piecemeal necrosis type). B. Hyperplasia of connective-fibrous tissue within portal spaces. Porto-portal bridges are sporadically visible. Hepatitis and the polyglandular autoimmune syndrome, type 1: Białkowska J, Zygmunt A, Lewiński A, Stankiewicz W, Knopik-Dąbrowicz A, Szubert W, Jabłkowski M - Archives of medical science : AMS (2011). Not altered. CC.

Autoimmune polyendocrine syndrome type 1 (APS1) is an inherited autoimmune condition that affects many of the body’s organs.

What is the Pathology of Autoimmune Polyendocrine Syndrome Type 1 (APS1)?

The pathology of autoimmune polyendocrine syndrome type 1 (APS1) is: 

-Etiology: The cause of autoimmune polyendocrine syndrome type 1 (APS1) is variations (mutations) in the AIRE gene and inheritance is autosomal recessive. 

-Genes involved: AIRE, HLA-DR/DQ

-Pathogenesis: The sequence of events that lead to autoimmune polyendocrine syndrome type 1 (APS1) is a complex recessively inherited disorder of immune-cell dysfunction with multiple autoimmunities and it presents as a group of symptoms including potentially life-threatening endocrine gland and gastrointestinal dysfunctions. 

-Morphology: The morphology associated with autoimmune polyendocrine syndrome type 1 (APS1) shows abnormality of the fingernails, abnormality of the cerebral blood vessels, and enlarged adrenal glands.

-Histology: The histology associated with autoimmune polyendocrine syndrome type 1 (APS1)  shows abnormal endocrine tissue. 

How does Autoimmune Polyendocrine Syndrome Type 1 (APS1) Present?

Patients with autoimmune polyendocrine syndrome type 1 (APS1) typically are either male or female present at the age range of childhood or adolescence. The symptoms, features, and clinical findings associated with autoimmune polyendocrine syndrome type 1 (APS1) include hypoparathyroidism, Addison disease, weak teeth, and chronic diarrhea or constipation.

How is Autoimmune Polyendocrine Syndrome Type 1 (APS1) Diagnosed?

Autoimmune polyendocrine syndrome type 1 (APS1) is diagnosed by looking at a person’s medical history, symptoms, physical exam, and laboratory test results. Laboratory tests include deletion/duplication analysis, sequence analysis of the entire coding region, targeted mutation analysis, and Sanger sequencing to loof for the AIRE gene. 

How is Autoimmune Polyendocrine Syndrome Type 1 (APS1) Treated?

Autoimmune polyendocrine syndrome type 1 (APS1) is treated with hormone replacement and medical management for any complications such as medication for candidiasis. 

What is the Prognosis of Autoimmune Polyendocrine Syndrome Type 1 (APS1)?

The prognosis of autoimmune polyendocrine syndrome type 1 (APS1) is fair. 

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Last updated on May 27, 2022