Medicine:Autoimmune polyendocrine syndrome
| Autoimmune polyendocrine syndrome | |
|---|---|
| Other names | Autoimmune polyglandular syndromes (APSs) |
 | |
| The autoimmune regulator protein (from the AIRE gene, which causes autoimmune polyendocrine syndrome type 1 when non-functional) | |
| Types | APS type1, APS type 2, IPEX syndrome |
| Causes | FOXP3 gene is involved in the mechanism [1] |
| Diagnostic method | Endoscopic, CT scan[2] |
| Treatment | Depends on type |
Autoimmune polyendocrine syndromes (APSs), also called polyglandular autoimmune syndromes (PGASs)[3] or polyendocrine autoimmune syndromes (PASs), are a heterogeneous group[4] of rare diseases characterized by autoimmune activity against more than one endocrine organ, although non-endocrine organs can be affected. There are three types of APS, and there are a number of other diseases which involve endocrine autoimmunity.[2][5][6]
Types
- Autoimmune polyendocrine syndrome type 1,[2] an autosomal recessive syndrome due to mutation of the AIRE gene resulting in hypoparathyroidism, adrenal insufficiency, hypogonadism, vitiligo, candidiasis and others.
- Autoimmune polyendocrine syndrome type 2,[7] an autosomal dominant syndrome due to multifactorial gene involvement resulting in adrenal insufficiency plus hypothyroidism and/or type 1 diabetes.
- Immunodysregulation polyendocrinopathy enteropathy X-linked syndrome (IPEX syndrome) is X-linked recessive due to mutation of the FOXP3 gene on the X chromosome. Most patients develop diabetes and diarrhea and many die due to autoimmune activity against many organs. Boys are affected, while girls are carriers and might experience mild disease.[2][8][9][10]
Cause
Each "type" of this condition has a different genetic cause. IPEX syndrome is inherited in males by an X-linked recessive process. The FOXP3 gene, whose cytogenetic location is Xp11.23, is involved in the mechanism of the IPEX condition.[11][1]
Diagnosis
Diagnosis for type 1 of this condition for example, sees that the following methods/tests are available:[2]
- Endoscopic
- CT scan
- Histologic test
Differential diagnosis
For this condition, differential diagnosis sees that the following should be considered:[12]
- CD25 deficiency
- STAT5B deficiency
- Severe combined immunodeficiency
- X linked thrombocytopenia
Management
Immunosuppressive therapy may be used in type I of this condition.[13] Ketoconazole can also be used for type I under certain conditions.[2]
The component diseases are managed as usual; the challenge is to detect the possibility of any of the syndromes and to anticipate other manifestations. For example, in a person with known type 2 autoimmune polyendocrine syndrome but no features of Addison's disease, regular screening for antibodies against 21-hydroxylase may prompt early intervention and hydrocortisone replacement to prevent characteristic crises
See also
References
- ↑ 1.0 1.1 Reference, Genetics Home. "FOXP3 gene" (in en). https://ghr.nlm.nih.gov/gene/FOXP3#conditions.
- ↑ 2.0 2.1 2.2 2.3 2.4 2.5 Type I Polyglandular Autoimmune Syndrome: Background, Pathophysiology, Epidemiology. 2017-01-06. http://emedicine.medscape.com/article/124183-overview.
- ↑ Dittmar, Manuela; Kahaly, George J. (2003). "Polyglandular Autoimmune Syndromes: Immunogenetics and Long-Term Follow-Up". The Journal of Clinical Endocrinology & Metabolism 88 (7): 2983–2992. doi:10.1210/jc.2002-021845. PMID 12843130.
- ↑ "Autoimmune polyendocrine syndromes". N. Engl. J. Med. 350 (20): 2068–79. 2004. doi:10.1056/NEJMra030158. PMID 15141045.
- ↑ Type III Polyglandular Autoimmune Syndrome: Background, Pathophysiology, Epidemiology. 2017-05-03. http://emedicine.medscape.com/article/124398-overview.
- ↑ Type II Polyglandular Autoimmune Syndrome: Background, Pathophysiology, Epidemiology. 2017-05-03. http://emedicine.medscape.com/article/124287-overview.
- ↑ "Autoimmune polyglandular syndrome type 2 | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program" (in en). https://rarediseases.info.nih.gov/diseases/7611/index.
- ↑ "IPEX syndrome" (in en). https://ghr.nlm.nih.gov/condition/immune-dysregulation-polyendocrinopathy-enteropathy-x-linked-syndrome#inheritance.
- ↑ "Immunodysregulation, polyendocrinopathy and enteropathy X-linked | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program" (in en). https://rarediseases.info.nih.gov/diseases/1850/index.
- ↑ Wildin, R. S.; Smyk-Pearson, S.; Filipovich, A. H. (1 August 2002). "Clinical and molecular features of the immunodysregulation, polyendocrinopathy, enteropathy, X linked (IPEX) syndrome" (in en). Journal of Medical Genetics 39 (8): 537–545. doi:10.1136/jmg.39.8.537. ISSN 0022-2593. PMID 12161590.
- ↑ Reference, Genetics Home. "IPEX syndrome" (in en). https://ghr.nlm.nih.gov/condition/immune-dysregulation-polyendocrinopathy-enteropathy-x-linked-syndrome#inheritance.
- ↑ RESERVED, INSERM US14 -- ALL RIGHTS. "Orphanet: Immune dysregulation polyendocrinopathy enteropathy X linked syndrome" (in en). http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=37042.
- ↑ Weiler, Fernanda Guimarães; Dias-da-Silva, Magnus R.; Lazaretti-Castro, Marise (2012-02-01). "Autoimmune polyendocrine syndrome type 1: case report and review of literature". Arquivos Brasileiros de Endocrinologia & Metabologia 56 (1): 54–66. doi:10.1590/S0004-27302012000100009. ISSN 0004-2730. PMID 22460196.
Further reading
- Improda, Nicola; Capalbo, Donatella; Cirillo, Emilia; Cerbone, Manuela; Esposito, Andrea; Pignata, Claudio; Salerno, Mariacarolina (1 November 2014). "Cutaneous vasculitis in patients with autoimmune polyendocrine syndrome type 1: report of a case and brief review of the literature". BMC Pediatrics 14: 272. doi:10.1186/1471-2431-14-272. ISSN 1471-2431. PMID 25361846.
- Shoenfeld, Yehuda; Cervera, Ricard; Gershwin, M. Eric (2008) (in en). Diagnostic Criteria in Autoimmune Diseases. Springer Science & Business Media. ISBN 9781603272858. https://books.google.com/books?id=A_vtzMxtd9AC&q=autoimmune+polyendocrine+syndromes&pg=PA265.
External links
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