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
Hauptverfasser: 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
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container_end_page 784
container_issue 6
container_start_page 773
container_title European journal of endocrinology
container_volume 169
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.
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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&amp;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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