title: Update on autoimmune polyendocrine syndromes (APS).
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.
authors.affiliation: Clinical Immunology and Allergology, Department of Medical and Surgical Sciences, University of Padua, Padua, Italy. corrado.betterle@unipd.it
authors.forename: Corrado
authors.initials: C
authors.lastname: Betterle
authors.forename: Renato
authors.initials: R
authors.lastname: Zanchetta
mesh_terms: D000224:Addison Disease / Q000175:diagnosis / Q000235:genetics / Q000276:immunology / Q000628:therapy; D000328:Adult; D000818:Animals; D001323:Autoantibodies / Q000032:analysis; D001327:Autoimmune Diseases / Q000145:classification / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics / Q000276:immunology / Q000628:therapy; D002177:Candidiasis / Q000209:etiology; D002648:Child; D002891:Chromosomes, Human, Pair 21 / Q000235:genetics; D002908:Chronic Disease; D003922:Diabetes Mellitus, Type 1 / Q000175:diagnosis / Q000235:genetics / Q000276:immunology / Q000628:therapy; D004195:Disease Models, Animal; D004700:Endocrine System Diseases / Q000145:classification / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics / Q000276:immunology / Q000628:therapy; D005260:Female; D020022:Genetic Predisposition to Disease; D006680:HLA Antigens / Q000235:genetics; D019693:Hepatitis, Autoimmune; D006801:Humans; D007006:Hypogonadism / Q000209:etiology; D007011:Hypoparathyroidism / Q000175:diagnosis / Q000235:genetics / Q000276:immunology / Q000628:therapy; D008297:Male; D015995:Prevalence; D013577:Syndrome; D013967:Thyroiditis, Autoimmune / Q000175:diagnosis / Q000235:genetics / Q000276:immunology / Q000628:therapy
chemical_list: D001323:Autoantibodies; D006680:HLA Antigens