Autoimmune polyendocrine syndrome 660694 181174718 2007-12-31T12:15:45Z Iridescent 937705 Cleanup & [[WP:AWB/T|typo fixing]] , typos fixed: establised → established using [[Project:AutoWikiBrowser|AWB]] {{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]]