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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Veröffentlicht in: | European journal of endocrinology 2013-12, Vol.169 (6), p.773-784 |
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creator | 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 |
description | 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 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.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. |
doi_str_mv | 10.1530/EJE-13-0528 |
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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 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.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.</description><identifier>ISSN: 0804-4643</identifier><identifier>EISSN: 1479-683X</identifier><identifier>DOI: 10.1530/EJE-13-0528</identifier><identifier>PMID: 24014553</identifier><language>eng</language><publisher>Bristol: BioScientifica</publisher><subject>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</subject><ispartof>European journal of endocrinology, 2013-12, Vol.169 (6), p.773-784</ispartof><rights>2013 European Society of Endocrinology</rights><rights>2015 INIST-CNRS</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-b398t-1e84bde191525c7f025cc23b91f1520deac64cf71c1b3132f4859551673f37773</citedby><cites>FETCH-LOGICAL-b398t-1e84bde191525c7f025cc23b91f1520deac64cf71c1b3132f4859551673f37773</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,780,784,27923,27924</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=27952898$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/24014553$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Betterle, Corrado</creatorcontrib><creatorcontrib>Scarpa, Riccardo</creatorcontrib><creatorcontrib>Garelli, Silvia</creatorcontrib><creatorcontrib>Morlin, Luca</creatorcontrib><creatorcontrib>Lazzarotto, Francesca</creatorcontrib><creatorcontrib>Presotto, Fabio</creatorcontrib><creatorcontrib>Coco, Graziella</creatorcontrib><creatorcontrib>Masiero, Stefano</creatorcontrib><creatorcontrib>Parolo, Anna</creatorcontrib><creatorcontrib>Albergoni, Maria Paola</creatorcontrib><creatorcontrib>Favero, Roberta</creatorcontrib><creatorcontrib>Barollo, Susi</creatorcontrib><creatorcontrib>Salvà, Monica</creatorcontrib><creatorcontrib>Basso, Daniela</creatorcontrib><creatorcontrib>Chen, Shu</creatorcontrib><creatorcontrib>Rees Smith, Bernard</creatorcontrib><creatorcontrib>Furmaniak, Jadwiga</creatorcontrib><creatorcontrib>Mantero, Franco</creatorcontrib><title>Addison's disease: a survey on 633 patients in Padova</title><title>European journal of endocrinology</title><addtitle>Eur J Endocrinol</addtitle><description>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 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.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.</description><subject>Addison Disease - diagnosis</subject><subject>Addison Disease - epidemiology</subject><subject>Addison Disease - genetics</subject><subject>Addison Disease - immunology</subject><subject>Addison Disease - therapy</subject><subject>Adolescent</subject><subject>Adrenal Cortex - immunology</subject><subject>Adrenal Gland Neoplasms - diagnosis</subject><subject>Adrenal Gland Neoplasms - epidemiology</subject><subject>Adrenal Gland Neoplasms - secondary</subject><subject>Adrenalectomy</subject><subject>Adrenals. Adrenal axis. Renin-angiotensin system (diseases)</subject><subject>Adult</subject><subject>Age of Onset</subject><subject>Aged</subject><subject>AIRE Protein</subject><subject>Autoantibodies - blood</subject><subject>Biological and medical sciences</subject><subject>Child</subject><subject>Clinical Study</subject><subject>Endocrinopathies</subject><subject>Female</subject><subject>Follow-Up Studies</subject><subject>Fundamental and applied biological sciences. Psychology</subject><subject>HLA-DRB1 Chains - genetics</subject><subject>Humans</subject><subject>Italy - epidemiology</subject><subject>Male</subject><subject>Medical sciences</subject><subject>Middle Aged</subject><subject>Mutation</subject><subject>Non tumoral diseases. Target tissue resistance. Benign neoplasms</subject><subject>Phenotype</subject><subject>Retrospective Studies</subject><subject>Sex Distribution</subject><subject>Transcription Factors - genetics</subject><subject>Vertebrates: endocrinology</subject><issn>0804-4643</issn><issn>1479-683X</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2013</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNp9kEtLAzEURoMotj5W7iUbUZDR3DwmE3el1BcFXSi4C5lMApF2pk5mCv33ZmjVnZv7XS6H78JB6AzIDQhGbmfPswxYRgQt9tAYuFRZXrCPfTQmBeEZzzkboaMYPwmBtJNDNKKcABeCjZGYVFWITX0ZcUpnorvDBse-XbsNbmqcM4ZXpguu7iIONX41VbM2J-jAm0V0p7s8Ru_3s7fpYzZ_eXiaTuZZyVTRZeAKXlYOFAgqrPQkTUtZqcCnC6mcsTm3XoKFkgGjnhdCCQG5ZJ5JKdkxutr2rtrmq3ex08sQrVssTO2aPmrgnDNFaUETer1FbdvE2DqvV21YmnajgejBk06eNDA9eEr0-a64L5eu-mV_xCTgYgeYaM3Ct6a2If5xUqUaNRTBlitDE-2gKfhgzb_PvwH0fnxY</recordid><startdate>20131201</startdate><enddate>20131201</enddate><creator>Betterle, Corrado</creator><creator>Scarpa, Riccardo</creator><creator>Garelli, Silvia</creator><creator>Morlin, Luca</creator><creator>Lazzarotto, Francesca</creator><creator>Presotto, Fabio</creator><creator>Coco, Graziella</creator><creator>Masiero, Stefano</creator><creator>Parolo, Anna</creator><creator>Albergoni, Maria Paola</creator><creator>Favero, Roberta</creator><creator>Barollo, Susi</creator><creator>Salvà, Monica</creator><creator>Basso, Daniela</creator><creator>Chen, Shu</creator><creator>Rees Smith, Bernard</creator><creator>Furmaniak, Jadwiga</creator><creator>Mantero, Franco</creator><general>BioScientifica</general><scope>IQODW</scope><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7X8</scope></search><sort><creationdate>20131201</creationdate><title>Addison's disease: a survey on 633 patients in Padova</title><author>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</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-b398t-1e84bde191525c7f025cc23b91f1520deac64cf71c1b3132f4859551673f37773</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2013</creationdate><topic>Addison Disease - diagnosis</topic><topic>Addison Disease - epidemiology</topic><topic>Addison Disease - genetics</topic><topic>Addison Disease - immunology</topic><topic>Addison Disease - therapy</topic><topic>Adolescent</topic><topic>Adrenal Cortex - immunology</topic><topic>Adrenal Gland Neoplasms - diagnosis</topic><topic>Adrenal Gland Neoplasms - epidemiology</topic><topic>Adrenal Gland Neoplasms - secondary</topic><topic>Adrenalectomy</topic><topic>Adrenals. Adrenal axis. Renin-angiotensin system (diseases)</topic><topic>Adult</topic><topic>Age of Onset</topic><topic>Aged</topic><topic>AIRE Protein</topic><topic>Autoantibodies - blood</topic><topic>Biological and medical sciences</topic><topic>Child</topic><topic>Clinical Study</topic><topic>Endocrinopathies</topic><topic>Female</topic><topic>Follow-Up Studies</topic><topic>Fundamental and applied biological sciences. Psychology</topic><topic>HLA-DRB1 Chains - genetics</topic><topic>Humans</topic><topic>Italy - epidemiology</topic><topic>Male</topic><topic>Medical sciences</topic><topic>Middle Aged</topic><topic>Mutation</topic><topic>Non tumoral diseases. Target tissue resistance. Benign neoplasms</topic><topic>Phenotype</topic><topic>Retrospective Studies</topic><topic>Sex Distribution</topic><topic>Transcription Factors - genetics</topic><topic>Vertebrates: endocrinology</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Betterle, Corrado</creatorcontrib><creatorcontrib>Scarpa, Riccardo</creatorcontrib><creatorcontrib>Garelli, Silvia</creatorcontrib><creatorcontrib>Morlin, Luca</creatorcontrib><creatorcontrib>Lazzarotto, Francesca</creatorcontrib><creatorcontrib>Presotto, Fabio</creatorcontrib><creatorcontrib>Coco, Graziella</creatorcontrib><creatorcontrib>Masiero, Stefano</creatorcontrib><creatorcontrib>Parolo, Anna</creatorcontrib><creatorcontrib>Albergoni, Maria Paola</creatorcontrib><creatorcontrib>Favero, Roberta</creatorcontrib><creatorcontrib>Barollo, Susi</creatorcontrib><creatorcontrib>Salvà, Monica</creatorcontrib><creatorcontrib>Basso, Daniela</creatorcontrib><creatorcontrib>Chen, Shu</creatorcontrib><creatorcontrib>Rees Smith, Bernard</creatorcontrib><creatorcontrib>Furmaniak, Jadwiga</creatorcontrib><creatorcontrib>Mantero, Franco</creatorcontrib><collection>Pascal-Francis</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>MEDLINE - Academic</collection><jtitle>European journal of endocrinology</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Betterle, Corrado</au><au>Scarpa, Riccardo</au><au>Garelli, Silvia</au><au>Morlin, Luca</au><au>Lazzarotto, Francesca</au><au>Presotto, Fabio</au><au>Coco, Graziella</au><au>Masiero, Stefano</au><au>Parolo, Anna</au><au>Albergoni, Maria Paola</au><au>Favero, Roberta</au><au>Barollo, Susi</au><au>Salvà, Monica</au><au>Basso, Daniela</au><au>Chen, Shu</au><au>Rees Smith, Bernard</au><au>Furmaniak, Jadwiga</au><au>Mantero, Franco</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Addison's disease: a survey on 633 patients in Padova</atitle><jtitle>European journal of endocrinology</jtitle><addtitle>Eur J Endocrinol</addtitle><date>2013-12-01</date><risdate>2013</risdate><volume>169</volume><issue>6</issue><spage>773</spage><epage>784</epage><pages>773-784</pages><issn>0804-4643</issn><eissn>1479-683X</eissn><abstract>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 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.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.</abstract><cop>Bristol</cop><pub>BioScientifica</pub><pmid>24014553</pmid><doi>10.1530/EJE-13-0528</doi><tpages>12</tpages><oa>free_for_read</oa></addata></record> |
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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 |
title | Addison's disease: a survey on 633 patients in Padova |
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