Home > Autoimmune polyendocrine syndrome
In medicine, autoimmune polyendocrine syndromes are a heterogenous group of rare diseases characterised by autoimmune activity against more than one endocrine organs, although non-endocrine organs can be affected.There are three "autoimmune polyendocrine syndromes", and a number of other diseases which have endocrine autoimmunity as one of their features.
1 The syndromes
1.1 Type 1
Autoimmune polyendocrine syndrome, type 1 is also known as the candidiasis- hypoparathyroidism- Addison's disease-syndrome after its main features:
- A mild immune deficiency, leading to persistent mucosal and cutaneous infections with candida yeasts. There is also decreased function of the spleen (asplenism).
- Autoimmune dysfunction of the parathyroid gland (leading to hypocalcemia) and the adrenal gland (Addison's disease: hypoglycemia, hypotension and severe reactions in disease).
- Other disease associations are:
- hypothyroidismHypothyroidism is a pathologic state caused by insufficient secretion of thyroid hormones by the thyroid gland. There are several distinct causes for chronic hypothyroidism, most common being Hashimoto's thyroiditis and iatrogenic (or postoperative) hypot
- hypogonadismHypogonadism is a medical term for a defect of the reproductive system which results in lack of function of the gonads ( ovaries or testes). The gonads have two functions: to produce hormones ( testosterone, estradiol, antimullerian hormone, progesterone, and infertility
- diabetes mellitusThis article is about the disease that features high blood sugar. The other major but far less common diabetes is diabetes insipidus ("water diabetes", DI). Diabetes mellitus is a medical disorder characterized by varying or persistent hyperglycemia (elev (type 1)
- vitiligoVitiligo (or leukoderma is the patchy loss of skin pigmentation due to an auto-immune attack by the body's own immune system on skin melanocytes. It frequently begins in late adulthood, with patches of unpigmented skin appearing on extremities. The patche (depigmentation of the skin)
- alopecia (baldness)
- malabsorptionThe state of impaired absorption of nutrients in the small intestine. Usually malabsorption involves fat and fat soluble vitamins, although it may affect vitamin B12, folic acid, protein and carbohydrates. Diarrhea is often present clinically.
- pernicious anemia
- chronic active (autoimmune) hepatitisIn medicine ( gastroenterology), hepatitis is any disease featuring inflammation of the liver. The clinical signs and prognosis, as well as the therapy, depend on the cause. Signs and symptoms Hepatitis is characterised by abdominal pain, fever, hepatomeg
As opposed to type 2, this syndrome inherits in an autosomal recessive fashion and is due to a defect in AIRE ("autoimmune regulator"), a gene located on the 21st chromosome. Normal function of AIRE, a transcription factor, appears to be to confer immune tolerance for antigens from endocrine organs.
1.2 Type 2
Autoimmune polyendocrine syndrome, type 2 (also known as "Schmidt's syndrome") is more heterogenous, occurs more often and has not been linked to one gene. Rather, patients are at a higher risk when they carry a particular HLA genotype (DQ2, DQ8 and DRB1*0404).
Features of this syndrome are:
- Addison's disease
- hypothyroidism
- diabetes mellitus (type 1)
- less common associations:
Some researchers favour splitting this syndrome into three distict syndromes (numbering 2, 3 and 4), but research evidence for these distinct combinations is not convincing.
