Autoimmune polyendocrine syndrome: Difference between revisions

	Autoimmune polyendocrine syndrome;
ICD-10	E31.0
OMIM	240300 269200
DiseasesDB	29212 Template:DiseasesDB2

	Autoimmune polyendocrine syndrome Microchapters
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Latest revision as of 13:02, 10 October 2017

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Akshun Kalia M.B.B.S.[2]

Synonyms and keywords: Polyglandular autoimmune syndrome; Polyendocrine autoimmune syndrome; Polyglandular autoimmune syndrome type 1; Multiple endocrine deficiency syndrome; Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome; Schmidt syndrome; APS type 1; APS type 2; APS type 3

For patient information click here

Overview

Historical Perspective

Classification

Pathophysiology

Causes

Differentiating Autoimmune polyendocrine syndrome from other Diseases

Epidemiology and Demographics

Risk Factors

Screening

Natural History, Complications and Prognosis

Diagnosis

Treatment

Case Studies

Case #1

References

De:Polyendokrine Autoimmunerkrankungen

Template:WikiDoc Sources

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+__NOTOC__
+{{Autoimmune polyendocrine syndrome}}
+{{CMG}}; {{AE}}{{Akshun}}
+{{SK}} Polyglandular autoimmune syndrome; Polyendocrine autoimmune syndrome; Polyglandular autoimmune syndrome type 1; Multiple endocrine deficiency syndrome; Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome; Schmidt syndrome; APS type 1; APS type 2; APS type 3
 '''For patient information click [[{{PAGENAME}} (patient information)|here]]'''
 {{Infobox_Disease |
    Name           = Autoimmune polyendocrine syndrome |
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    OMIM_mult      = {{OMIM2|269200}} |
    MedlinePlus    = |
-  eMedicineSubj  = |
-  eMedicineTopic = |
-  eMedicine_mult = |
    MeshID         = |
 }}
-{{Autoimmune polyendocrine syndrome}}
-{{CMG}}
-==Overview==
+==[[Autoimmune polyendocrine syndrome overview|Overview]]==
-'''Autoimmune polyendocrine syndromes''' are heterogeneous group of [[rare disease]]s characterized by [[autoimmune]] activity against more than one [[endocrine organ]]s, although non-endocrine organs can be affected.
+==[[Autoimmune polyendocrine syndrome historical perspective|Historical Perspective]]==
-There are three "autoimmune polyendocrine syndromes", and a number of other diseases which have endocrine autoimmunity as one of their features.
+==[[Autoimmune polyendocrine syndrome classification|Classification]]==
-== The syndromes ==
+==[[Autoimmune polyendocrine syndrome pathophysiology|Pathophysiology]]==
-=== 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
-** [[diabetes mellitus]] (type 1)
-** [[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.
+==[[Autoimmune polyendocrine syndrome causes|Causes]]==
-A EU-funded consortium is currently doing translational research on this condition and has establised w webpage at [http://www.apeced.net EurAPS].
+==[[Autoimmune polyendocrine syndrome differential diagnosis|Differentiating Autoimmune polyendocrine syndrome from other Diseases]]==
-=== Type 2 ===
+==[[Autoimmune polyendocrine syndrome epidemiology and demographics|Epidemiology and Demographics]]==
-''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:
+==[[Autoimmune polyendocrine syndrome risk factors|Risk Factors]]==
-* 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.
+==[[Autoimmune polyendocrine syndrome screening|Screening]]==
-=== XPID ===
+==[[Autoimmune polyendocrine syndrome natural history, complications and prognosis|Natural History, Complications and Prognosis]]==
-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 ==
+==Diagnosis==
-Other diseases featuring polyendocrine autoimmunity:
+[[Autoimmune polyendocrine syndrome history and symptoms| History and Symptoms]] | [[Autoimmune polyendocrine syndrome physical examination | Physical Examination]] | [[Autoimmune polyendocrine syndrome laboratory findings|Laboratory Findings]] | [[Autoimmune polyendocrine syndrome electrocardiogram|Electrocardiogram]] | [[Autoimmune polyendocrine syndrome x ray|X Ray]] | [[Autoimmune polyendocrine syndrome CT|CT]] | [[Autoimmune polyendocrine syndrome MRI|MRI]] | [[Autoimmune polyendocrine syndrome echocardiography or ultrasound|Ultrasound]] | [[Autoimmune polyendocrine syndrome other imaging findings|Other Imaging Findings]] | [[Autoimmune polyendocrine syndrome other diagnostic studies|Other Diagnostic Studies]]
-* 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 ==
+==Treatment==
-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.
+[[Autoimmune polyendocrine syndrome medical therapy|Medical Therapy]] | [[Autoimmune polyendocrine syndrome surgery|Surgery]] | [[Autoimmune polyendocrine syndrome primary prevention|Primary Prevention]] | [[Autoimmune polyendocrine syndrome secondary prevention|Secondary Prevention]] | [[Autoimmune polyendocrine syndrome cost-effectiveness of therapy|Cost-Effectiveness of Therapy]] | [[Autoimmune polyendocrine syndrome future or investigational therapies|Future or Investigational Therapies]]
-== Sources ==
+==Case Studies==
-* Eisenbarth GS, Gottlieb PA. Autoimmune polyendocrine syndromes. [[New England Journal of Medicine|N Engl J Med]] 2004;350:2068-79. PMID 15141045.
+[[Autoimmune polyendocrine syndrome case study one|Case #1]]
-==External links==
+==References==
+{{reflist|2}}
 {{Endocrine pathology}}
 [[Category:Endocrinology]]
-[[Category:Autoimmune diseases]]
+[[Category:Disease]]
-[[Category:Mature chapter]]
 [[De:Polyendokrine Autoimmunerkrankungen]]

v t e Endocrine pathology: endocrine diseases (E00-35, 240-259)
Thyroid	Hypothyroidism (Iodine deficiency, Cretinism, Congenital hypothyroidism, Goitre, Myxedema) - Hyperthyroidism (Graves disease, Toxic multinodular goitre, Teratoma with thyroid tissue or Struma ovarii) - Thyroiditis (De Quervain's thyroiditis, Hashimoto's thyroiditis, Riedel's thyroiditis) - Euthyroid sick syndrome
Pancreas	Diabetes mellitus (type 1, type 2, coma, angiopathy, ketoacidosis, nephropathy, neuropathy, retinopathy) - Hypoglycemia - Hyperinsulinism - Zollinger-Ellison syndrome - insulin receptor (Rabson-Mendenhall syndrome)
Parathyroid	Hypoparathyroidism (Pseudohypoparathyroidism) - Hyperparathyroidism (Primary, Secondary, Tertiary)
Pituitary	Hyperpituitarism (Acromegaly, Hyperprolactinaemia, SIADH) - Hypopituitarism (Simmonds' disease / Sheehan's syndrome, Kallmann syndrome, Growth hormone deficiency, Diabetes insipidus) - Adiposogenital dystrophy - Empty sella syndrome - Hypophysitis
Adrenal	Cushing's syndrome (Nelson's syndrome, Pseudo-Cushing's syndrome) - CAH (Lipoid, 3β, 11β, 17α, 21α) - Hyperaldosteronism (Conn syndrome, Bartter syndrome) - Adrenal insufficiency (Addison's disease) - Hypoaldosteronism
Gonads	Ovarian dysfunction (Polycystic ovary syndrome, Premature ovarian failure) - Testicular dysfunction (5-alpha-reductase deficiency) - Testosterone biosynthesis (17-beta-hydroxysteroid dehydrogenase deficiency) - General (Hypogonadism, Delayed puberty, Precocious puberty)
Other	Androgen insensitivity syndrome - Autoimmune polyendocrine syndrome - Carcinoid syndrome - Gigantism - Short stature (Laron syndrome, Psychogenic dwarfism) - Multiple endocrine neoplasia (1, 2) - Progeria - Woodhouse-Sakati syndrome

Autoimmune polyendocrine syndrome
ICD-10	E31.0
OMIM	240300 269200
DiseasesDB	29212 Template:DiseasesDB2