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Semin Liver Dis 2009; 29(3): 307-314
DOI: 10.1055/s-0029-1233535
© Thieme Medical Publishers

The Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy or Autoimmune Polyglandular Syndrome Type 1

Tim O. Lankisch1 , Elmar Jaeckel1 , Christian P. Strassburg1
  • 1Department of Gastroenterology, Hepatology, and Endocrinology, Hannover Medical School, Hannover, Germany
Further Information

Publication History

Publication Date:
12 August 2009 (online)

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ABSTRACT

Autoimmune polyglandular syndromes are rare autoimmune endocrinopathies that are associated with nonendocrine autoimmunopathies. Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED), also named autoimmune polyglandular syndrome type 1 (APS-1), is distinguished from autoimmune polyglandular syndrome 2 (APS-2). Major disease components of APECED are adrenal insufficiency, hypoparathyroidism, and candidiasis. The diagnosis is established by the presence of two out of the three components. Minor clinical features include autoimmune hepatitis, which occurs in up to 20% of APECED patients, and ranges from a mild to a fulminant course. The disease mostly affects juvenile patients from Sardegna, Italy, Finland, and Iran (Iranian Jews), but it also occurs in other ethnic groups. The AIRE gene responsible for APECED is expressed in cells involved in induction and maintenance of immune tolerance. Genetic alterations of the single gene are associated with APECED. Because a specific therapy is not currently available, treatment consists of hormone replacement and caring for clinical symptoms.

KEYWORDS

Autoimmune endocrinopathies - autoimmune hepatitis - candidiasis - hypoparathyroidism - adrenal insufficiency

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Christian P StrassburgM.D. 

Professor of Gastroenterology and Hepatology, Department of Gastroenterology, Hepatology, and Endocrinology Hannover Medical School

Carl-Neuberg-Str. 1, 30625 Hannover, Germany

Email: strassburg.christian@mh-hannover.de

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