Addison's disease: a survey on 633 patients in Padova

ObjectiveAddison's disease (AD) is a rare endocrine condition.DesignWe aimed to evaluate clinical, immunologic, adrenal imaging, and genetic features in 633 Italian patients with AD followed up since 1967.MethodsAdrenal cortex autoantibodies, presence of other autoimmune and nonautoimmune disea...

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Published in:	European journal of endocrinology Vol. 169; no. 6; pp. 773 - 784
Main Authors:	Betterle, Corrado, Scarpa, Riccardo, Garelli, Silvia, Morlin, Luca, Lazzarotto, Francesca, Presotto, Fabio, Coco, Graziella, Masiero, Stefano, Parolo, Anna, Albergoni, Maria Paola, Favero, Roberta, Barollo, Susi, Salvà, Monica, Basso, Daniela, Chen, Shu, Rees Smith, Bernard, Furmaniak, Jadwiga, Mantero, Franco
Format:	Journal Article
Language:	English
Published:	Bristol BioScientifica 01-12-2013
Subjects:	Addison Disease - diagnosis Addison Disease - epidemiology Addison Disease - genetics Addison Disease - immunology Addison Disease - therapy Adolescent Adrenal Cortex - immunology Adrenal Gland Neoplasms - diagnosis Adrenal Gland Neoplasms - epidemiology Adrenal Gland Neoplasms - secondary Adrenalectomy Adrenals. Adrenal axis. Renin-angiotensin system (diseases) Adult Age of Onset Aged AIRE Protein Autoantibodies - blood Biological and medical sciences Child Clinical Study Endocrinopathies Female Follow-Up Studies Fundamental and applied biological sciences. Psychology HLA-DRB1 Chains - genetics Humans Italy - epidemiology Male Medical sciences Middle Aged Mutation Non tumoral diseases. Target tissue resistance. Benign neoplasms Phenotype Retrospective Studies Sex Distribution Transcription Factors - genetics Vertebrates: endocrinology Italy Endocrinopathy Human Survey Adrenal insufficiency Addison disease Hypocorticism Adrenal cortex diseases Surveillance Adrenal gland diseases Patient Endocrinology
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Summary:	ObjectiveAddison's disease (AD) is a rare endocrine condition.DesignWe aimed to evaluate clinical, immunologic, adrenal imaging, and genetic features in 633 Italian patients with AD followed up since 1967.MethodsAdrenal cortex autoantibodies, presence of other autoimmune and nonautoimmune diseases, nonadrenal autoantibodies, adrenal imaging, and genetic profile for HLA-DRB1 and AIRE were analyzed.ResultsA 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 (88–100%) 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 DRB103 and DRB104 were increased, and DRB101, DRB107, DRB1*013 were reduced in APS2 patients when compared with controls. Of the patients with APS1, 96% were revealed to have AIRE gene mutations.ConclusionsA-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.
Bibliography:	ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 content type line 23
ISSN:	0804-4643 1479-683X
DOI:	10.1530/EJE-13-0528