Autoimmune polyendocrine syndrome type 1
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
Overview
Autoimmune polyendocrine syndrome type 1 (APS-1), also known as autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED), Whitaker syndrome,[1] or candidiasis-hypoparathyroidism-Addison's disease-syndrome,[2] is a subtype of autoimmune polyendocrine syndrome, in which multiple endocrine glands dysfunction as a result of autoimmunity. It is a genetic disorder inherited in autosomal recessive fashion due to a defect in the AIRE (Auto immune regulator) gene which is located on chromosome 21 and normally confers immune tolerance.
Historical Perspective
Classification
Pathophysiology
Genetics
It is caused in autosomal recessive manner due to a defect in AIRE gene mapped to 21q22.3.[3]
Causes
Differentiating Autoimmune Polyendocrine Syndrome Type 1 from other Diseases
Epidemiology and Demographics
Age
Gender
Race
Risk Factors
Natural History, Complications and Prognosis
Diagnosis
Diagnostic Criteria
Symptoms
Its main features include:[citation needed]
- A mild immune deficiency, leading to persistent mucosal and cutaneous infections with candida yeasts. There is also decreased function of the spleen (hyposplenism).
- Autoimmune dysfunction of the parathyroid gland (leading to hypocalcaemia) 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
- chronic active (autoimmune) hepatitis
Physical Examination
Laboratory Findings
Imaging Findings
Other Diagnostic Studies
Treatment
Medical Therapy
Surgery
Prevention
References
- ↑ "Polyglandular Autoimmune Syndrome, Type I - eMedicine Endocrinology". Medscape. Retrieved 2009-04-17.
- ↑ Greenspan, Francis S.; Gardner, David C. (2004). Basic clinical endocrinology. New York: McGraw-Hill. p. 103. ISBN 0-07-140297-7.
- ↑ Buzi, F; Badolato, R; Mazza, C; Giliani, S; Notarangelo, LD; Radetti, G; Plebani, A; Notarangelo, LD (Jul 2003). "Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome: time to review diagnostic criteria?". The Journal of clinical endocrinology and metabolism. 88 (7): 3146–8. PMID 12843157.
- Further reading
- Buzi, F; Badolato, R; Mazza, C; Giliani, S; Notarangelo, LD; Radetti, G; Plebani, A; Notarangelo, LD (Jul 2003). "Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome: time to review diagnostic criteria?". The Journal of clinical endocrinology and metabolism. 88 (7): 3146–8. PMID 12843157.
- Peterson, P; Pitakanen, J; Sillanpaa, N; Krohn, K (2004). "Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED): a model disease to study molecular aspects of endocrine autoimmunity". Clinical and Experimental Immunology. 135 (3): 348–357. doi:10.1111/j.1365-2249.2004.02384.x. PMC 1808970. PMID 15008965.
- Capalbo, Donatella; De Martino, Lucia; Giardino, Giuliana; Di Mase, Raffaella; Di Donato, Iolanda; Parenti, Giancarlo; Vajro, Pietro; Pignata, Claudio; Salerno, Mariacarolina (2012). "Autoimmune Polyendocrinopathy Candidiasis Ectodermal Dystrophy: Insights into Genotype-Phenotype Correlation". International Journal of Endocrinology. 2012: 1–9. doi:10.1155/2012/353250.
External links
- Autoimmune polyglandular syndrome, type 1 on Genetics Home Reference
- EurAPS, a EU-funded consortium doing translational research on this condition