title: Addison's disease: a survey on 633 patients in Padova.
abstract: OBJECTIVE
  Addison's disease (AD) is a rare endocrine condition.
  
  
  METHODS
  We aimed to evaluate clinical, immunologic, adrenal imaging, and genetic features in 633 Italian patients with AD followed up since 1967.
  
  
  METHODS
  Adrenal cortex autoantibodies, presence of other autoimmune and nonautoimmune diseases, nonadrenal autoantibodies, adrenal imaging, and genetic profile for HLA-DRB1 and AIRE were analyzed.
  
  
  RESULTS
  A total of 492 (77.7%) patients were found to be affected by autoimmune AD (A-AD), 57 (9%) tuberculous AD, 29 (4.6%) genetic-associated AD, 10 (1.6%) adrenal cancer, six (0.94%) post-surgical AD, four (0.6%) vascular disorder-related AD, three (0.5%) post-infectious AD, and 32 (5.1%) were defined as idiopathic. Adrenal cortex antibodies were detected in the vast majority (88100%) of patients with recent onset A-AD, but in none of those with nonautoimmune AD. Adrenal imaging revealed normal/atrophic glands in all A-AD patients: 88% of patients with A-AD had other clinical or subclinical autoimmune diseases or were positive for nonadrenal autoantibodies. Based on the coexistence of other autoimmune disorders, 65.6% of patients with A-AD were found to have type 2 autoimmune polyendocrine syndrome (APS2), 14.4% have APS1, and 8.5% have APS4. Class II HLA alleles DRB1*03 and DRB1*04 were increased, and DRB1*01, DRB1*07, DRB1*013 were reduced in APS2 patients when compared with controls. Of the patients with APS1, 96% were revealed to have AIRE gene mutations.
  
  
  CONCLUSIONS
  A-AD is the most prevalent form of adrenal insufficiency in Italy, and ∼90% of the patients are adrenal autoantibody-positive at the onset. Assessment of patients with A-AD for the presence of other autoimmune diseases should be helpful in monitoring and diagnosing APS types 1, 2, or 4 and improving patients' care.
authors.affiliation: Endocrine Unit, Department of Medicine, University of Padova, Via Ospedale Civile, 105, 35128 Padova, Italy.
authors.forename: Corrado
authors.initials: C
authors.lastname: Betterle
authors.forename: Riccardo
authors.initials: R
authors.lastname: Scarpa
authors.forename: Silvia
authors.initials: S
authors.lastname: Garelli
authors.forename: Luca
authors.initials: L
authors.lastname: Morlin
authors.forename: Francesca
authors.initials: F
authors.lastname: Lazzarotto
authors.forename: Fabio
authors.initials: F
authors.lastname: Presotto
authors.forename: Graziella
authors.initials: G
authors.lastname: Coco
authors.forename: Stefano
authors.initials: S
authors.lastname: Masiero
authors.forename: Anna
authors.initials: A
authors.lastname: Parolo
authors.forename: Maria Paola
authors.initials: MP
authors.lastname: Albergoni
authors.forename: Roberta
authors.initials: R
authors.lastname: Favero
authors.forename: Susi
authors.initials: S
authors.lastname: Barollo
authors.forename: Monica
authors.initials: M
authors.lastname: Salvà
authors.forename: Daniela
authors.initials: D
authors.lastname: Basso
authors.forename: Shu
authors.initials: S
authors.lastname: Chen
authors.forename: Bernard
authors.initials: B
authors.lastname: Rees Smith
authors.forename: Jadwiga
authors.initials: J
authors.lastname: Furmaniak
authors.forename: Franco
authors.initials: F
authors.lastname: Mantero
mesh_terms: D000224:Addison Disease / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics / Q000276:immunology / Q000628:therapy; D000293:Adolescent; D000302:Adrenal Cortex / Q000276:immunology*; D000310:Adrenal Gland Neoplasms / Q000175:diagnosis / Q000453:epidemiology / Q000556:secondary; D000315:Adrenalectomy; D000328:Adult; D017668:Age of Onset; D000368:Aged; D001323:Autoantibodies / Q000097:blood*; D002648:Child; D005260:Female; D005500:Follow-Up Studies; D059811:HLA-DRB1 Chains / Q000235:genetics*; D006801:Humans; D007558:Italy / Q000453:epidemiology; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010641:Phenotype; D012189:Retrospective Studies; D017678:Sex Distribution; D014157:Transcription Factors / Q000235:genetics*; D000096927:AIRE Protein
chemical_list: D001323:Autoantibodies; D059811:HLA-DRB1 Chains; D014157:Transcription Factors; D000096927:AIRE Protein