Autoimmune polyendocrine syndrome
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{{Infobox_Disease |
Name = Autoimmune polyendocrine syndrome |
Image = |
Caption = |
DiseasesDB = 29212 |
DiseasesDB_mult = {{DiseasesDB2|29690}} |
ICD10 = {{ICD10|E|31|0|e|20}} |
ICD9 = |
ICDO = |
OMIM = 240300 |
OMIM_mult = {{OMIM2|269200}} |
MedlinePlus = |
eMedicineSubj = med |
eMedicineTopic = 1867 |
eMedicine_mult = {{eMedicine2|med|1868}} |
MeshID = |
}}
In [[medicine]], '''autoimmune polyendocrine syndromes''' are a heterogeneous group of [[rare disease]]s characterised by [[autoimmune]] activity against more than one [[endocrine organ]]s, 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.
== The syndromes ==
=== 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 (genus)|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:
** [[hypothyroidism]]
** [[hypogonadism]] and infertility
** [[vitiligo]] (depigmentation of the skin)
** [[alopecia]] (baldness)
** [[malabsorption]]
** [[pernicious anemia]]
** [[hepatitis#autoimmune|chronic active (autoimmune) hepatitis]]
As opposed to type 2, this syndrome inherits in an [[autosomal recessive]] fashion and is due to a defect in ''[[Autoimmune regulator|AIRE]]'' ("''a''uto''i''mmune ''re''gulator"), 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.
A EU-funded consortium is currently doing translational research on this condition and has established a webpage at [http://www.apeced.net EurAPS].
=== Type 2 ===
''Autoimmune polyendocrine syndrome, type 2'' (also known as "Schmidt's syndrome") is more heterogeneous, 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:
** hypogonadism
** vitiligo
Some researchers favour splitting this syndrome into three distinct syndromes (numbering 2, 3 and 4), but research evidence for these distinct combinations is not convincing.
=== XPID ===
The most serious but rarest form is the ''X-linked polyendocrinopathy, immunodeficiency and [[diarrhea]]''-syndrome, also called [[IPEX]]. This is due to mutation of the ''[[FOXP3]]'' gene on the X chromosome. Most patients develop diabetes and diarrhea as neonates and many die due to autoimmune activity against many organs. Boys are affected, while girls are carriers and might suffer mild disease.
== Other diseases ==
Other diseases featuring polyendocrine autoimmunity:
* Chromosomal abnormalities ([[Down's syndrome]]) increase the risk of endocrine autoimmunity
* POEMS syndrome - the ''E'' is for endocrinopathy; the cause is a [[paraprotein]] excreted by a plasmacytoma or [[multiple myeloma]]; other features are [[polyneuropathy]], organomegaly ([[hepatomegaly]] and [[splenomegaly]]), M-protein (paraprotein) and skin changes.
* Several very [[rare disease]]s.
== Management ==
In principle, the component diseases are managed as usual. The challenge is to detect the possibility of any of the above syndromes, and to anticipate other manifestations. For example, in a patient with known Type 2 autoimmune polyendocrine syndrome but no features of [[Addison's disease]], regular screening for [[antibody|antibodies]] against 21-hydroxylase (a feature of Addison's) may prompt early intervention and [[hydrocortisone]] replacement to prevent characteristic crises.
== Sources ==
* Eisenbarth GS, Gottlieb PA. Autoimmune polyendocrine syndromes. [[New England Journal of Medicine|N Engl J Med]] 2004;350:2068-79. PMID 15141045.
==External links==
{{Endocrine pathology}}
[[Category:Endocrinology]]
[[Category:Autoimmune diseases]]
[[de:Polyendokrine Autoimmunerkrankungen]]