Autoimmune polyendocrine syndrome
Name = Autoimmune polyendocrine syndrome
DiseasesDB = 29212
DiseasesDB_mult = DiseasesDB2|29690 | ICD10 = ICD10|E|31|0|e|20
ICD9 = ICD9|258.1
OMIM = 240300
OMIM_mult = OMIM2|269200
eMedicineSubj = med
eMedicineTopic = 1867
eMedicine_mult = eMedicine2|med|1868 | MeshID =
medicine, autoimmune polyendocrine syndromes are a heterogeneous group [cite journal |author=Eisenbarth GS, Gottlieb PA |title=Autoimmune polyendocrine syndromes |journal=N. Engl. J. Med. |volume=350 |issue=20 |pages=2068–79 |year=2004 |pmid=15141045 |doi=10.1056/NEJMra030158 |url=] of rare diseases characterised by autoimmuneactivity 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.
"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, hypotensionand severe reactions in disease).
* Other disease associations are:
vitiligo(depigmentation of the skin)
** chronic active (autoimmune) hepatitis
As opposed to type 2, this syndrome inherits in an
autosomal recessivefashion and is due to a defect in "AIRE" ("a"uto"i"mmune "re"gulator"),cite journal |author=Bensing S, Fetissov SO, Mulder J, "et al" |title=Pituitary autoantibodies in autoimmune polyendocrine syndrome type 1 |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=104 |issue=3 |pages=949–54 |year=2007 |month=January |pmid=17215373 |pmc=1783420 |doi=10.1073/pnas.0610070104 |url= |accessdate=2008-07-25] a genelocated on the 21st chromosome. Normal function of "AIRE", a transcription factor, appears to be to confer immune tolerancefor 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] .
"Autoimmune polyendocrine syndrome, type 2" (also known as "Schmidt's syndrome"cite journal |author=Heuss D, Engelhardt A, Göbel H, Neundörfer B |title=Myopathological findings in interstitial myositis in type II polyendocrine autoimmune syndrome (Schmidt's syndrome) |journal=Neurol. Res. |volume=17 |issue=3 |pages=233–7 |year=1995 |month=June |pmid=7643982 |doi= |url= |accessdate=2008-07-25] ) 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 HLAgenotype (DQ2, DQ8 and DRB1*0404).
Features of this syndrome are:
Addison's diseasecite journal |author=Betterle C, Zanchetta R |title=Update on autoimmune polyendocrine syndromes (APS) |journal=Acta Biomed |volume=74 |issue=1 |pages=9–33 |year=2003 |month=April |pmid=12817789 |doi= |url= |accessdate=2008-07-25]
diabetes mellitus(type 1)
* less common associations:
Some researchers favour splitting this syndrome into three distinct syndromes (numbering 2, 3cite journal |author=de Carmo Silva R, Kater CE, Dib SA, "et al" |title=Autoantibodies against recombinant human steroidogenic enzymes 21-hydroxylase, side-chain cleavage and 17alpha-hydroxylase in Addison's disease and autoimmune polyendocrine syndrome type III |journal=Eur. J. Endocrinol. |volume=142 |issue=2 |pages=187–94 |year=2000 |month=February |pmid=10664529 |doi= |url=http://eje-online.org/cgi/pmidlookup?view=long&pmid=10664529 |accessdate=2008-07-25] and 4), but research evidence for these distinct combinations is not convincing.
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.cite journal |author=Yong PL, Russo P, Sullivan KE |title=Use of Sirolimus in IPEX and IPEX-Like Children |journal=J. Clin. Immunol. |volume= |issue= |pages= |year=2008 |month=May |pmid=18481161 |doi=10.1007/s10875-008-9196-1 |url=http://dx.doi.org/10.1007/s10875-008-9196-1] 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 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 paraproteinexcreted by a plasmacytoma or multiple myeloma; other features are polyneuropathy, organomegaly ( hepatomegalyand splenomegaly), M-protein (paraprotein) and skin changes.
* Several very
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 antibodies against 21-hydroxylase (a feature of Addison's) may prompt early intervention and hydrocortisonereplacement to prevent characteristic crises.
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