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{{Autoimmune polyendocrine syndrome}}
{{Autoimmune polyendocrine syndrome}}
{{CMG}};{{AE}}
{{CMG}};{{AE}}{{Akshun}}


==Overview==
==Overview==
The majority of patients with [disease name] are asymptomatic.
A detailed [[History & Symptoms|history]] may be helpful in the early [[diagnosis]] of the autoimmune polyendocrine syndrome (APS). Autoimmune polyendocrine syndrome [[patients]] generally have an early onset. In such cases, history from the caregivers may be obtained. An important aspect involves obtaining [[family history]] about the presence of APS in family members since APS can be transmitted in [[genetic]] mode. [[Patients]] with the autoimmune polyendocrine syndrome (APS) have varied [[symptoms]] depending on the subtype. The most common presentation of APS-1 include mucocutaneous [[candidiasis]], [[hypoparathyroidism]] and [[Addison's disease]]. The most common presentation of APS-2 include [[Addison's disease]] with [[autoimmune thyroiditis]] or [[diabetes mellitus type 1]]. The most common presentation of APS 3 include [[autoimmune thyroiditis]], [[diabetes mellitus type 1]], [[pernicious anemia]] and/or with involvement of a non-[[endocrine]] [[Organ (anatomy)|organ]].
OR
 
The hallmark of [disease name] is [finding]. A positive history of [finding 1] and [finding 2] is suggestive of [disease name]. The most common symptoms of [disease name] include [symptom 1], [symptom 2], and [symptom 3]. Common symptoms of [disease] include [symptom 1], [symptom 2], and [symptom 3]. Less common symptoms of [disease name] include [symptom 1], [symptom 2], and [symptom 3].
==History==
==History==
Obtaining a detailed history is an important aspect in making a [[diagnosis]] of autoimmune polyendocrine syndrome (APS). It provides insight into the [[Causality|cause]], precipitating factors and associated [[comorbid]] conditions. It also helps in determining the correct [[therapy]] and the [[prognosis]].  Autoimmune polyendocrine syndrome [[patients]] generally have an early onset. In such cases [[History & Symptoms|history]] from the care givers or the family members may need to be obtained. Specific areas of focus while obtaining history, are outlined below:<ref name="pmid25905309">{{cite journal |vauthors=De Groot LJ, Chrousos G, Dungan K, Feingold KR, Grossman A, Hershman JM, Koch C, Korbonits M, McLachlan R, New M, Purnell J, Rebar R, Singer F, Vinik A, Nicolaides NC, Chrousos, Charmandari E |journal= |volume= |issue= |pages= |year= |pmid=25905309 |doi= |url=}}</ref><ref name="pmid12050215">{{cite journal |vauthors=Halonen M, Eskelin P, Myhre AG, Perheentupa J, Husebye ES, Kämpe O, Rorsman F, Peltonen L, Ulmanen I, Partanen J |title=AIRE mutations and human leukocyte antigen genotypes as determinants of the autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy phenotype |journal=J. Clin. Endocrinol. Metab. |volume=87 |issue=6 |pages=2568–74 |year=2002 |pmid=12050215 |doi=10.1210/jcem.87.6.8564 |url=}}</ref><ref name="pmid10633830">{{cite journal |vauthors=Borgaonkar MR, Morgan DG |title=Primary biliary cirrhosis and type II autoimmune polyglandular syndrome |journal=Can. J. Gastroenterol. |volume=13 |issue=9 |pages=767–70 |year=1999 |pmid=10633830 |doi= |url=}}</ref>


Obtaining history is an important aspect in making a diagnosis of autoimmune polyendocrine syndrome (APS).  It provides insight into cause, precipitating factors and associated comorbid conditions. Complete history will help determine the correct therapy and helps in determining the prognosis.  Autoimmune polyendocrine syndrome patients generally have an early onset. In such cases history from the care givers or the family members may need to be obtained. Specific areas of focus when obtaining the history, are outlined below:
* Onset, duration and progression of [[symptoms]] (mucocutaneous [[candidiasis]], [[hypoparathyroidism]] and [[adrenal failure]])
 
* Any [[family history]] of similar [[symptoms]] or autoimmune polyendocrine syndrome (APS)
* Onset, duration and progression of symptoms (mucocutaneous candidiasis, hypoparathyroidism and adrenal failure)
* History of recurrent [[infections]] (to rule out [[immunodeficiency]])
* Any family history of similar symptoms or autoimmune polyendocrine syndrome (APS)
* Associated [[symptoms]] ([[lethargy]], [[fever]], [[confusion]])
* History of recurrent infections (to rule out immunodeficiency)
* [[Medications]]
* Associated symptoms (lethargy, [[fever]], [[confusion]])
* [[Symptoms]] of other [[organ failure]] ([[renal failure]], [[liver failure]], [[adrenal failure]])
* Medications  
* [[Comorbid]] conditions like [[diabetes]], [[immunodeficiency]]
* Symptoms of other organ failure ([[renal failure]], [[liver failure]], [[adrenal failure]])
* Co-morbid conditions like [[diabetes]], [[immunodeficiency]]
* [[Sepsis|Severe infections]]
* [[Sepsis|Severe infections]]
* Any [[dehydration]] history for severe loss of fluids
* Any [[dehydration]] history for severe loss of [[fluids]]


==Symptoms==
==Symptoms==
Patients with autoimmune polyendocrine syndrome (APS) have varied symptoms depending upon the subtype.  
[[Patients]] with autoimmune polyendocrine syndrome (APS) have varied [[symptoms]] depending upon the subtype.  
====Autoimmune polyendocrine syndrome (APS) type 1====
====Autoimmune polyendocrine syndrome (APS) type 1====
* The most common symptoms of APS-1 include mucocutaneous candidiasis, hypoparathyroidism and Addison's disease. In APS type 1, the time interval between onset of one endocrinopathy to another may take upto 20 years.This condition is also termed as APECED (autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy).
APS type 1 commonly presents in infancy. The symptoms include:<ref name="pmid22460196">{{cite journal |vauthors=Weiler FG, Dias-da-Silva MR, Lazaretti-Castro M |title=Autoimmune polyendocrine syndrome type 1: case report and review of literature |journal=Arq Bras Endocrinol Metabol |volume=56 |issue=1 |pages=54–66 |year=2012 |pmid=22460196 |doi= |url=}}</ref><ref name="pmid17202607">{{cite journal |vauthors=Joshi RR, Rao S, Prabhu SS |title=Polyglandular autoimmune syndrome-type I |journal=Indian Pediatr |volume=43 |issue=12 |pages=1085–7 |year=2006 |pmid=17202607 |doi= |url=}}</ref><ref name="pmid19411300">{{cite journal |vauthors=Kahaly GJ |title=Polyglandular autoimmune syndromes |journal=Eur. J. Endocrinol. |volume=161 |issue=1 |pages=11–20 |year=2009 |pmid=19411300 |doi=10.1530/EJE-09-0044 |url=}}</ref><ref name="pmid24503135">{{cite journal |vauthors=Charmandari E, Nicolaides NC, Chrousos GP |title=Adrenal insufficiency |journal=Lancet |volume=383 |issue=9935 |pages=2152–67 |year=2014 |pmid=24503135 |doi=10.1016/S0140-6736(13)61684-0 |url=}}</ref><ref name="pmid2348835">{{cite journal |vauthors=Ahonen P, Myllärniemi S, Sipilä I, Perheentupa J |title=Clinical variation of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) in a series of 68 patients |journal=N. Engl. J. Med. |volume=322 |issue=26 |pages=1829–36 |year=1990 |pmid=2348835 |doi=10.1056/NEJM199006283222601 |url=}}</ref><ref name="pmid9543115">{{cite journal |vauthors=Betterle C, Greggio NA, Volpato M |title=Clinical review 93: Autoimmune polyglandular syndrome type 1 |journal=J. Clin. Endocrinol. Metab. |volume=83 |issue=4 |pages=1049–55 |year=1998 |pmid=9543115 |doi=10.1210/jcem.83.4.4682 |url=}}</ref>
** The most common and the first presentation of APS type 1 is candidiasis (seen in children less than 5 years). These patients commonly have recurrent monilial infection. The fungal infection is mostly often limited to the oral and anal mucosa.
* The most common [[symptoms]] of APS-1 include mucocutaneous [[candidiasis]], [[hypoparathyroidism]] and [[Addison's disease]]. In APS type 1, the time interval between onset of one [[endocrinopathy]] to another may take up to years or decades. This condition is also termed as APECED (autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy).  
** The second symptom complex is from hypoparathyroidism (seen in children younger than 10 years of age). The symptoms include [[tetany]] (hallmark of acute [[hypocalcemia]]), [[paresthesia]], [[carpopedal spasm|carpopedal spasms]], circumoral [[numbness]], fatigue and [[abdominal pain]].  
** The most common and the first presentation of APS type 1 is [[candidiasis]] (seen in children less than 5 years). These patients commonly have recurrent monilial [[infection]]. The [[fungal]] infection is mostly often limited to the [[oral]] and [[anal]] [[mucosa]] and presents with recurrent [[itching]], soreness, painful [[Rash (patient information)|rash]] in the [[genital area]] and [[discharge]].
** Addison's disease generally presents in patients < 15 years of age. The common symptoms of Addison's include weakness, fatigue, [[weight loss]], [[anorexia]], [[nausea]], [[vomiting]], [[diarrhea]] and orthostatic hypotension.
** The second symptom complex is from [[hypoparathyroidism]] (seen in children younger than 10 years of age). The [[symptoms]] include [[tetany]] (hallmark of acute [[hypocalcemia]]), [[paresthesia]], [[carpopedal spasm|carpopedal spasms]], circumoral [[numbness]], fatigue and [[abdominal pain]].  
** Other APS-1 associated diseases include autoimmune hepatitis, primary hypothyroidism, a malabsorption syndrome, vitiligo, pernicious anemia, type 1 diabetes, alopecia, primary hypogonadism, cutaneous abnormalities, pulmonary disease, ovarian failure, pericarditis, cerebellar degeneration, encephalopathy, asplenia, esophageal cancer, polyneuropathy, pure red cell aplasia and others.
** [[Addison's disease]] generally presents in [[patients]] < 15 years of age. The common [[symptoms]] of [[Addison's]] include [[weakness]], [[fatigue]], [[weight loss]], [[anorexia]], [[nausea]], [[vomiting]], [[diarrhea]] and [[orthostatic hypotension]].
 
** Other APS-1 associated diseases include [[autoimmune hepatitis]], [[primary hypothyroidism]], a [[malabsorption]] syndrome, [[vitiligo]], [[pernicious anemia]], [[type 1 diabetes]], [[alopecia]], primary [[hypogonadism]], [[cutaneous]] abnormalities, [[pulmonary disease]], [[ovarian failure]], [[pericarditis]], [[Cerebellar Degeneration|cerebellar degeneration]], [[encephalopathy]], [[asplenia]], [[esophageal cancer]], [[polyneuropathy]], [[pure red cell aplasia]] and others.
==History and Symptoms==
'''Type I:''' fungal infections ([[chronic mucocutaneous candidiasis]]), thyroid issues ([[hypoparathyroidism]]), autoimmune [[adrenal insufficency]], [[type 1 diabetes]], reproductive issues ([[hypogonadism]]), [[pernicious anemia|anemia]], [[malabsorption]], [[alopecia|baldness]], and [[vitiligo]]
:Symptoms may appear as young as five years old (specifically with [[candidiasis]]). [[Hypoparathyroidism]] commonly appears in people younger than 10 years. Autoimmune [[adrenal insufficency]] appears in people younger than 15 years.
'''Type II:''' autoimmune disease ([[Addison's disease]]), [[thyroid]] disease, [[type 1 diabetes]], reproductive issues ([[hypogonadism]]), digestive issues ([[Celiac disease]]) and neuromuscular disease ([[myasthenia gravis]]).
'''Type III:''' digestive issues ([[Celiac disease]] and gastric carcinoid tumors), reproductive issues ([[hypogonadism]]), autoimmune disorders ([[sarcoidosis]]), and [[rheumatoid arthritis]].


===History===
====Autoimmune polyendocrine syndrome (APS) type 2====
Patients with [disease name]] may have a positive history of:
APS type 2 commonly presents in [[infancy]] and adulthood. The [[symptoms]] include:<ref name="pmid26071578">{{cite journal |vauthors=Cyniak-Magierska A, Lasoń A, Smyczyńska J, Lewiński A |title=Autoimmune polyglandular syndrome type 2 manifested as Hashimoto's thyroiditis and adrenocortical insufficiency, in Turner syndrome woman, with onset following introduction of treatment with recombinant human growth hormone |journal=Neuro Endocrinol. Lett. |volume=36 |issue=2 |pages=119–23 |year=2015 |pmid=26071578 |doi= |url=}}</ref><ref name="pmid12050123">{{cite journal |vauthors=Betterle C, Dal Pra C, Mantero F, Zanchetta R |title=Autoimmune adrenal insufficiency and autoimmune polyendocrine syndromes: autoantibodies, autoantigens, and their applicability in diagnosis and disease prediction |journal=Endocr. Rev. |volume=23 |issue=3 |pages=327–64 |year=2002 |pmid=12050123 |doi=10.1210/edrv.23.3.0466 |url=}}</ref><ref name="pmid17375512">{{cite journal |vauthors=Majeroni BA, Patel P |title=Autoimmune polyglandular syndrome, type II |journal=Am Fam Physician |volume=75 |issue=5 |pages=667–70 |year=2007 |pmid=17375512 |doi= |url=}}</ref>
*[history finding 1]
* The most common [[symptoms]] of APS-2 include [[Addison's disease]] with [[autoimmune thyroiditis]] or [[diabetes mellitus type 1]]. Other common presentation include primary [[hypogonadism]], [[myasthenia gravis]] and [[celiac disease]].
*[history finding 2]
**The common [[symptoms]] of [[autoimmune thyroiditis]] and [[hypothyroidism]] are [[fatigue]], [[cold]] intolerance, decreased [[sweating]], [[hypothermia]], coarse [[skin]], [[weight gain]], [[depression]], [[emotional lability]], and [[attention deficit]].
*[history finding 3]
**[[Diabetes mellitus type 1]] presents either as classic new onset, with persistent [[thirst]], [[frequent urination]], and [[dehydration]], or as [[diabetic ketoacidosis]], which commonly presents with [[abdominal pain]], [[vomiting]] and [[Flu|flu-like symptoms]].
===Common Symptoms===
** [[Grave's disease]] commonly presents with [[palpitations]], [[tremor]] (usually fine shaking of [[hands]]), [[excessive sweating]], [[heat]] intolerance, increased [[appetite]], unexplained [[weight loss]] despite increased [[appetite]], [[muscle]] [[weakness]], [[insomnia]] and increased [[energy]].
Common symptoms of [disease] include:
**[[Celiac disease]] commonly presents with [[weight loss]], [[steatorrhea]], [[bloating]], [[cramping]], and [[malnutrition]].
*[symptom 1]
*[symptom 2]
*[symptom 3]


===Less Common Symptoms===
====Autoimmune polyendocrine syndrome (APS) type 3====
Less common symptoms of [disease name] include
APS type 3 commonly presents in [[neonatal]] period. The [[symptoms]] include:<ref name="pmid12951278">{{cite journal |vauthors=Shimomura H, Nakase Y, Furuta H, Nishi M, Nakao T, Hanabusa T, Sasaki H, Okamoto K, Furukawa F, Nanjo K |title=A rare case of autoimmune polyglandular syndrome type 3 |journal=Diabetes Res. Clin. Pract. |volume=61 |issue=2 |pages=103–8 |year=2003 |pmid=12951278 |doi= |url=}}</ref><ref name="pmid16946565">{{cite journal |vauthors=Oki K, Yamane K, Koide J, Mandai K, Nakanishi S, Fujikawa R, Kohno N |title=A case of polyglandular autoimmune syndrome type III complicated with autoimmune hepatitis |journal=Endocr. J. |volume=53 |issue=5 |pages=705–9 |year=2006 |pmid=16946565 |doi= |url=}}</ref><ref name="pmid19289325">{{cite journal |vauthors=Sheehan MT, Islam R |title=Silent thyroiditis, isolated corticotropin deficiency, and alopecia universalis in a patient with ulcerative colitis and elevated levels of plasma factor VIII: an unusual case of autoimmune polyglandular syndrome type 3 |journal=Endocr Pract |volume=15 |issue=2 |pages=138–42 |year=2009 |pmid=19289325 |doi=10.4158/EP.15.2.138 |url=}}</ref>
*[symptom 1]
*The most common [[symptoms]] of APS 3 include [[autoimmune thyroiditis]], [[diabetes mellitus type 1]], [[pernicious anemia]] and/or with involvement of a non-[[endocrine]] [[Organ (anatomy)|organ]]. (A major difference between APS type 3 and other sub-types is the absence of [[Addison's disease]] in APS type 3.)
*[symptom 2]
*Patients with APS type 3 (IPEX) presents in the [[perinatal period]] or in early [[infancy]] with [[chronic diarrhea]] due to [[autoimmune enteropathy]] or [[diabetes mellitus]].
*[symptom 3]
*The [[symptoms]] of APS type 3 may wax and wane over the course of time and can be worsened by [[infections]] or [[Vaccinations|vaccination]].
*Other common [[symptoms]] include [[Eczema|eczematous]] [[dermatitis]], [[autoimmune hemolytic anemia]] and [[glomerulonephritis]].


==References==
==References==

Latest revision as of 22:07, 27 October 2017

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

Overview

A detailed history may be helpful in the early diagnosis of the autoimmune polyendocrine syndrome (APS). Autoimmune polyendocrine syndrome patients generally have an early onset. In such cases, history from the caregivers may be obtained. An important aspect involves obtaining family history about the presence of APS in family members since APS can be transmitted in genetic mode. Patients with the autoimmune polyendocrine syndrome (APS) have varied symptoms depending on the subtype. The most common presentation of APS-1 include mucocutaneous candidiasis, hypoparathyroidism and Addison's disease. The most common presentation of APS-2 include Addison's disease with autoimmune thyroiditis or diabetes mellitus type 1. The most common presentation of APS 3 include autoimmune thyroiditis, diabetes mellitus type 1, pernicious anemia and/or with involvement of a non-endocrine organ.

History

Obtaining a detailed history is an important aspect in making a diagnosis of autoimmune polyendocrine syndrome (APS). It provides insight into the cause, precipitating factors and associated comorbid conditions. It also helps in determining the correct therapy and the prognosis. Autoimmune polyendocrine syndrome patients generally have an early onset. In such cases history from the care givers or the family members may need to be obtained. Specific areas of focus while obtaining history, are outlined below:[1][2][3]

Symptoms

Patients with autoimmune polyendocrine syndrome (APS) have varied symptoms depending upon the subtype.

Autoimmune polyendocrine syndrome (APS) type 1

APS type 1 commonly presents in infancy. The symptoms include:[4][5][6][7][8][9]

Autoimmune polyendocrine syndrome (APS) type 2

APS type 2 commonly presents in infancy and adulthood. The symptoms include:[10][11][12]

Autoimmune polyendocrine syndrome (APS) type 3

APS type 3 commonly presents in neonatal period. The symptoms include:[13][14][15]

References

  1. De Groot LJ, Chrousos G, Dungan K, Feingold KR, Grossman A, Hershman JM, Koch C, Korbonits M, McLachlan R, New M, Purnell J, Rebar R, Singer F, Vinik A, Nicolaides NC, Chrousos, Charmandari E. PMID 25905309. Missing or empty |title= (help)
  2. Halonen M, Eskelin P, Myhre AG, Perheentupa J, Husebye ES, Kämpe O, Rorsman F, Peltonen L, Ulmanen I, Partanen J (2002). "AIRE mutations and human leukocyte antigen genotypes as determinants of the autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy phenotype". J. Clin. Endocrinol. Metab. 87 (6): 2568–74. doi:10.1210/jcem.87.6.8564. PMID 12050215.
  3. Borgaonkar MR, Morgan DG (1999). "Primary biliary cirrhosis and type II autoimmune polyglandular syndrome". Can. J. Gastroenterol. 13 (9): 767–70. PMID 10633830.
  4. Weiler FG, Dias-da-Silva MR, Lazaretti-Castro M (2012). "Autoimmune polyendocrine syndrome type 1: case report and review of literature". Arq Bras Endocrinol Metabol. 56 (1): 54–66. PMID 22460196.
  5. Joshi RR, Rao S, Prabhu SS (2006). "Polyglandular autoimmune syndrome-type I". Indian Pediatr. 43 (12): 1085–7. PMID 17202607.
  6. Kahaly GJ (2009). "Polyglandular autoimmune syndromes". Eur. J. Endocrinol. 161 (1): 11–20. doi:10.1530/EJE-09-0044. PMID 19411300.
  7. Charmandari E, Nicolaides NC, Chrousos GP (2014). "Adrenal insufficiency". Lancet. 383 (9935): 2152–67. doi:10.1016/S0140-6736(13)61684-0. PMID 24503135.
  8. Ahonen P, Myllärniemi S, Sipilä I, Perheentupa J (1990). "Clinical variation of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) in a series of 68 patients". N. Engl. J. Med. 322 (26): 1829–36. doi:10.1056/NEJM199006283222601. PMID 2348835.
  9. Betterle C, Greggio NA, Volpato M (1998). "Clinical review 93: Autoimmune polyglandular syndrome type 1". J. Clin. Endocrinol. Metab. 83 (4): 1049–55. doi:10.1210/jcem.83.4.4682. PMID 9543115.
  10. Cyniak-Magierska A, Lasoń A, Smyczyńska J, Lewiński A (2015). "Autoimmune polyglandular syndrome type 2 manifested as Hashimoto's thyroiditis and adrenocortical insufficiency, in Turner syndrome woman, with onset following introduction of treatment with recombinant human growth hormone". Neuro Endocrinol. Lett. 36 (2): 119–23. PMID 26071578.
  11. Betterle C, Dal Pra C, Mantero F, Zanchetta R (2002). "Autoimmune adrenal insufficiency and autoimmune polyendocrine syndromes: autoantibodies, autoantigens, and their applicability in diagnosis and disease prediction". Endocr. Rev. 23 (3): 327–64. doi:10.1210/edrv.23.3.0466. PMID 12050123.
  12. Majeroni BA, Patel P (2007). "Autoimmune polyglandular syndrome, type II". Am Fam Physician. 75 (5): 667–70. PMID 17375512.
  13. Shimomura H, Nakase Y, Furuta H, Nishi M, Nakao T, Hanabusa T, Sasaki H, Okamoto K, Furukawa F, Nanjo K (2003). "A rare case of autoimmune polyglandular syndrome type 3". Diabetes Res. Clin. Pract. 61 (2): 103–8. PMID 12951278.
  14. Oki K, Yamane K, Koide J, Mandai K, Nakanishi S, Fujikawa R, Kohno N (2006). "A case of polyglandular autoimmune syndrome type III complicated with autoimmune hepatitis". Endocr. J. 53 (5): 705–9. PMID 16946565.
  15. Sheehan MT, Islam R (2009). "Silent thyroiditis, isolated corticotropin deficiency, and alopecia universalis in a patient with ulcerative colitis and elevated levels of plasma factor VIII: an unusual case of autoimmune polyglandular syndrome type 3". Endocr Pract. 15 (2): 138–42. doi:10.4158/EP.15.2.138. PMID 19289325.

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