Update on autoimmune polyendocrine syndromes (APS)

Acta Biomed. 2003 Apr;74(1):9-33.

Abstract

Autoimmune Polyendocrine Syndromes (APS) were initially defined as a multiple endocrine gland insufficiency associated to an autoimmune disease in a patient. Neufeld & Blizzard (1980) suggested a classification of APS, based on clinical criteria only, describing four main types. APS-1 is characterized by presence of chronic candidiasis, chronic hypoparathyroidism, Addison's disease. It is a very rare syndrome interesting young subjects correlating to different mutations of AIRE (AutoImmuneRegulator) gene on chromosome 21. APS-2 is characterized by presence of Addison's disease (always present), autoimmune thyroid diseases and/or type 1 diabetes mellitus. It is a rare syndrome interesting particularly adult females and associated to a genetic pattern of HLA DR3/DR4. Autoimmune thyroid diseases associated to other autoimmune diseases (excluding Addison's disease and/or hypoparathyroidism), are the main characteristics of APS-3. The different clinical combinations of autoimmune diseases not included in the previous groups are characteristics of APS-4. In this paper criteria for defining a disease as autoimmune are presented. Furthermore, the classification, epidemiology, pathogenesis, genetic, animal models, clinical features, laboratory's tests, imaging, therapy, recent progresses in understanding the APS and a detailed analysis of large group of our patients affected by different types of APS are proposed and discussed.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Addison Disease / diagnosis
  • Addison Disease / genetics
  • Addison Disease / immunology
  • Addison Disease / therapy
  • Adult
  • Animals
  • Autoantibodies / analysis
  • Autoimmune Diseases* / classification
  • Autoimmune Diseases* / diagnosis
  • Autoimmune Diseases* / epidemiology
  • Autoimmune Diseases* / genetics
  • Autoimmune Diseases* / immunology
  • Autoimmune Diseases* / therapy
  • Candidiasis / etiology
  • Child
  • Chromosomes, Human, Pair 21 / genetics
  • Chronic Disease
  • Diabetes Mellitus, Type 1 / diagnosis
  • Diabetes Mellitus, Type 1 / genetics
  • Diabetes Mellitus, Type 1 / immunology
  • Diabetes Mellitus, Type 1 / therapy
  • Disease Models, Animal
  • Endocrine System Diseases* / classification
  • Endocrine System Diseases* / diagnosis
  • Endocrine System Diseases* / epidemiology
  • Endocrine System Diseases* / genetics
  • Endocrine System Diseases* / immunology
  • Endocrine System Diseases* / therapy
  • Female
  • Genetic Predisposition to Disease
  • HLA Antigens / genetics
  • Hepatitis, Autoimmune
  • Humans
  • Hypogonadism / etiology
  • Hypoparathyroidism / diagnosis
  • Hypoparathyroidism / genetics
  • Hypoparathyroidism / immunology
  • Hypoparathyroidism / therapy
  • Male
  • Prevalence
  • Syndrome
  • Thyroiditis, Autoimmune / diagnosis
  • Thyroiditis, Autoimmune / genetics
  • Thyroiditis, Autoimmune / immunology
  • Thyroiditis, Autoimmune / therapy

Substances

  • Autoantibodies
  • HLA Antigens