Diagnostic delay and clinical modifiers in alpha-1 antitrypsin deficiency.
Identifieur interne : 000352 ( Main/Exploration ); précédent : 000351; suivant : 000353Diagnostic delay and clinical modifiers in alpha-1 antitrypsin deficiency.
Auteurs : Thomas Köhnlein [Allemagne] ; Sabina Janciauskiene ; Tobias WelteSource :
- Therapeutic advances in respiratory disease [ 1753-4666 ] ; 2010.
Descripteurs français
- KwdFr :
- Adulte (MeSH), Adulte d'âge moyen (MeSH), Allemagne (MeSH), Autriche (MeSH), Déficit en alpha-1-antitrypsine (diagnostic), Déficit en alpha-1-antitrypsine (physiopathologie), Enquêtes et questionnaires (MeSH), Femelle (MeSH), Fumer (épidémiologie), Grippe humaine (prévention et contrôle), Humains (MeSH), Infections à pneumocoques (prévention et contrôle), Mâle (MeSH), Pollution par la fumée de tabac (effets indésirables), Retard de diagnostic (MeSH), Sujet âgé (MeSH), Tolérance à l'effort (MeSH), Vaccination (statistiques et données numériques), alpha-1-Antitrypsine (administration et posologie), Âge de début (MeSH), Études transversales (MeSH).
- MESH :
- administration et posologie : alpha-1-Antitrypsine.
- diagnostic : Déficit en alpha-1-antitrypsine.
- effets indésirables : Pollution par la fumée de tabac.
- physiopathologie : Déficit en alpha-1-antitrypsine.
- prévention et contrôle : Grippe humaine, Infections à pneumocoques.
- statistiques et données numériques : Vaccination.
- épidémiologie : Fumer.
- Adulte, Adulte d'âge moyen, Allemagne, Autriche, Enquêtes et questionnaires, Femelle, Humains, Mâle, Retard de diagnostic, Sujet âgé, Tolérance à l'effort, Âge de début, Études transversales.
- Wicri :
English descriptors
- KwdEn :
- Adult (MeSH), Age of Onset (MeSH), Aged (MeSH), Austria (MeSH), Cross-Sectional Studies (MeSH), Delayed Diagnosis (MeSH), Exercise Tolerance (MeSH), Female (MeSH), Germany (MeSH), Humans (MeSH), Influenza, Human (prevention & control), Male (MeSH), Middle Aged (MeSH), Pneumococcal Infections (prevention & control), Smoking (epidemiology), Surveys and Questionnaires (MeSH), Tobacco Smoke Pollution (adverse effects), Vaccination (statistics & numerical data), alpha 1-Antitrypsin (administration & dosage), alpha 1-Antitrypsin Deficiency (diagnosis), alpha 1-Antitrypsin Deficiency (physiopathology).
- MESH :
- chemical , administration & dosage : alpha 1-Antitrypsin.
- chemical , adverse effects : Tobacco Smoke Pollution.
- geographic : Austria, Germany.
- diagnosis : alpha 1-Antitrypsin Deficiency.
- epidemiology : Smoking.
- physiopathology : alpha 1-Antitrypsin Deficiency.
- prevention & control : Influenza, Human, Pneumococcal Infections.
- statistics & numerical data : Vaccination.
- Adult, Age of Onset, Aged, Cross-Sectional Studies, Delayed Diagnosis, Exercise Tolerance, Female, Humans, Male, Middle Aged, Surveys and Questionnaires.
Abstract
BACKGROUND
Alpha-1 antitrypsin deficiency (AATD) is one of the most prevalent inherited diseases in Whites, but identification of affected patients and establishment of the diagnosis is still unsatisfactory. This study assessed the latencies and numbers of physicians involved in identifying AATD patients, and the importance of smoking, vaccination status, and specific augmentation therapy on the course of the disease.
METHOD
Patients from Germany and Austria underwent a single written interview with 28 items. Five hundred and ninety-six patients were addressed and 44.9% replied.
RESULTS
The age at symptom onset was 39.1±10.1 years, and the diagnosis was established at the age of 45.1±10.9 years. From the 6-year delay in establishing the diagnosis, 1.4±1.7 (range 0.5-10.5) years were due to patients' reluctance to seek medical attention. There were 3.2±2.4 (range 1-13) physicians involved in establishing the diagnosis. Smoking was associated with an earlier onset of respiratory symptoms and lower exercise capacity. Vaccination against pneumococci and/or influenza, and augmentation therapy resulted in significantly fewer exacerbations and fewer emergency room visits. Airway infections and passive smoking during childhood were not found to influence the onset of respiratory symptoms.
CONCLUSIONS
In conclusion, there is still a large delay between symptom onset and AATD diagnosis. Smoking history, vaccination status, and augmentation therapy have an important impact on the course of the disease.
DOI: 10.1177/1753465810376407
PubMed: 20660539
Affiliations:
Links toward previous steps (curation, corpus...)
Le document en format XML
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Respiratory Medicine, Carl-Neuberg-Strasse 1, Hannover, Germany. koehnlein.thomas@mh-hannover.de</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Hannover Medical School, Respiratory Medicine, Carl-Neuberg-Strasse 1, Hannover</wicri:regionArea><placeName><region type="land" nuts="2">Basse-Saxe</region><settlement type="city">Hanovre</settlement></placeName></affiliation></author><author><name sortKey="Janciauskiene, Sabina" sort="Janciauskiene, Sabina" uniqKey="Janciauskiene S" first="Sabina" last="Janciauskiene">Sabina Janciauskiene</name></author><author><name sortKey="Welte, Tobias" sort="Welte, Tobias" uniqKey="Welte T" first="Tobias" last="Welte">Tobias Welte</name></author></analytic><series><title level="j">Therapeutic advances in respiratory disease</title><idno type="eISSN">1753-4666</idno><imprint><date when="2010" type="published">2010</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" 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(MeSH)</term><term>Autriche (MeSH)</term><term>Déficit en alpha-1-antitrypsine (diagnostic)</term><term>Déficit en alpha-1-antitrypsine (physiopathologie)</term><term>Enquêtes et questionnaires (MeSH)</term><term>Femelle (MeSH)</term><term>Fumer (épidémiologie)</term><term>Grippe humaine (prévention et contrôle)</term><term>Humains (MeSH)</term><term>Infections à pneumocoques (prévention et contrôle)</term><term>Mâle (MeSH)</term><term>Pollution par la fumée de tabac (effets indésirables)</term><term>Retard de diagnostic (MeSH)</term><term>Sujet âgé (MeSH)</term><term>Tolérance à l'effort (MeSH)</term><term>Vaccination (statistiques et données numériques)</term><term>alpha-1-Antitrypsine (administration et posologie)</term><term>Âge de début (MeSH)</term><term>Études transversales (MeSH)</term></keywords><keywords scheme="MESH" type="chemical" qualifier="administration & dosage" xml:lang="en"><term>alpha 1-Antitrypsin</term></keywords><keywords scheme="MESH" type="chemical" qualifier="adverse effects" xml:lang="en"><term>Tobacco Smoke Pollution</term></keywords><keywords scheme="MESH" type="geographic" xml:lang="en"><term>Austria</term><term>Germany</term></keywords><keywords scheme="MESH" qualifier="administration et posologie" xml:lang="fr"><term>alpha-1-Antitrypsine</term></keywords><keywords scheme="MESH" qualifier="diagnosis" xml:lang="en"><term>alpha 1-Antitrypsin Deficiency</term></keywords><keywords scheme="MESH" qualifier="diagnostic" xml:lang="fr"><term>Déficit en alpha-1-antitrypsine</term></keywords><keywords scheme="MESH" qualifier="effets indésirables" xml:lang="fr"><term>Pollution par la fumée de tabac</term></keywords><keywords scheme="MESH" qualifier="epidemiology" xml:lang="en"><term>Smoking</term></keywords><keywords scheme="MESH" qualifier="physiopathologie" xml:lang="fr"><term>Déficit en alpha-1-antitrypsine</term></keywords><keywords scheme="MESH" qualifier="physiopathology" xml:lang="en"><term>alpha 1-Antitrypsin Deficiency</term></keywords><keywords scheme="MESH" qualifier="prevention & control" xml:lang="en"><term>Influenza, Human</term><term>Pneumococcal Infections</term></keywords><keywords scheme="MESH" qualifier="prévention et contrôle" xml:lang="fr"><term>Grippe humaine</term><term>Infections à pneumocoques</term></keywords><keywords scheme="MESH" qualifier="statistics & numerical data" xml:lang="en"><term>Vaccination</term></keywords><keywords scheme="MESH" qualifier="statistiques et données numériques" xml:lang="fr"><term>Vaccination</term></keywords><keywords scheme="MESH" qualifier="épidémiologie" xml:lang="fr"><term>Fumer</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adult</term><term>Age of Onset</term><term>Aged</term><term>Cross-Sectional Studies</term><term>Delayed Diagnosis</term><term>Exercise Tolerance</term><term>Female</term><term>Humans</term><term>Male</term><term>Middle Aged</term><term>Surveys and Questionnaires</term></keywords><keywords scheme="MESH" xml:lang="fr"><term>Adulte</term><term>Adulte d'âge moyen</term><term>Allemagne</term><term>Autriche</term><term>Enquêtes et questionnaires</term><term>Femelle</term><term>Humains</term><term>Mâle</term><term>Retard de diagnostic</term><term>Sujet âgé</term><term>Tolérance à l'effort</term><term>Âge de début</term><term>Études transversales</term></keywords><keywords scheme="Wicri" type="geographic" xml:lang="fr"><term>Autriche</term><term>Allemagne</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><p><b>BACKGROUND</b></p><p>Alpha-1 antitrypsin deficiency (AATD) is one of the most prevalent inherited diseases in Whites, but identification of affected patients and establishment of the diagnosis is still unsatisfactory. This study assessed the latencies and numbers of physicians involved in identifying AATD patients, and the importance of smoking, vaccination status, and specific augmentation therapy on the course of the disease.</p></div><div type="abstract" xml:lang="en"><p><b>METHOD</b></p><p>Patients from Germany and Austria underwent a single written interview with 28 items. Five hundred and ninety-six patients were addressed and 44.9% replied.</p></div><div type="abstract" xml:lang="en"><p><b>RESULTS</b></p><p>The age at symptom onset was 39.1±10.1 years, and the diagnosis was established at the age of 45.1±10.9 years. From the 6-year delay in establishing the diagnosis, 1.4±1.7 (range 0.5-10.5) years were due to patients' reluctance to seek medical attention. There were 3.2±2.4 (range 1-13) physicians involved in establishing the diagnosis. Smoking was associated with an earlier onset of respiratory symptoms and lower exercise capacity. Vaccination against pneumococci and/or influenza, and augmentation therapy resulted in significantly fewer exacerbations and fewer emergency room visits. Airway infections and passive smoking during childhood were not found to influence the onset of respiratory symptoms.</p></div><div type="abstract" xml:lang="en"><p><b>CONCLUSIONS</b></p><p>In conclusion, there is still a large delay between symptom onset and AATD diagnosis. Smoking history, vaccination status, and augmentation therapy have an important impact on the course of the disease.</p></div></front></TEI><pubmed><MedlineCitation Status="MEDLINE" Owner="NLM"><PMID Version="1">20660539</PMID><DateCompleted><Year>2011</Year><Month>01</Month><Day>19</Day></DateCompleted><DateRevised><Year>2015</Year><Month>11</Month><Day>19</Day></DateRevised><Article PubModel="Print-Electronic"><Journal><ISSN IssnType="Electronic">1753-4666</ISSN><JournalIssue CitedMedium="Internet"><Volume>4</Volume><Issue>5</Issue><PubDate><Year>2010</Year><Month>Oct</Month></PubDate></JournalIssue><Title>Therapeutic advances in respiratory disease</Title><ISOAbbreviation>Ther Adv Respir Dis</ISOAbbreviation></Journal><ArticleTitle>Diagnostic delay and clinical modifiers in alpha-1 antitrypsin deficiency.</ArticleTitle><Pagination><MedlinePgn>279-87</MedlinePgn></Pagination><ELocationID EIdType="doi" ValidYN="Y">10.1177/1753465810376407</ELocationID><Abstract><AbstractText Label="BACKGROUND" NlmCategory="BACKGROUND">Alpha-1 antitrypsin deficiency (AATD) is one of the most prevalent inherited diseases in Whites, but identification of affected patients and establishment of the diagnosis is still unsatisfactory. This study assessed the latencies and numbers of physicians involved in identifying AATD patients, and the importance of smoking, vaccination status, and specific augmentation therapy on the course of the disease.</AbstractText><AbstractText Label="METHOD" NlmCategory="METHODS">Patients from Germany and Austria underwent a single written interview with 28 items. Five hundred and ninety-six patients were addressed and 44.9% replied.</AbstractText><AbstractText Label="RESULTS" NlmCategory="RESULTS">The age at symptom onset was 39.1±10.1 years, and the diagnosis was established at the age of 45.1±10.9 years. From the 6-year delay in establishing the diagnosis, 1.4±1.7 (range 0.5-10.5) years were due to patients' reluctance to seek medical attention. There were 3.2±2.4 (range 1-13) physicians involved in establishing the diagnosis. Smoking was associated with an earlier onset of respiratory symptoms and lower exercise capacity. Vaccination against pneumococci and/or influenza, and augmentation therapy resulted in significantly fewer exacerbations and fewer emergency room visits. Airway infections and passive smoking during childhood were not found to influence the onset of respiratory symptoms.</AbstractText><AbstractText Label="CONCLUSIONS" NlmCategory="CONCLUSIONS">In conclusion, there is still a large delay between symptom onset and AATD diagnosis. Smoking history, vaccination status, and augmentation therapy have an important impact on the course of the disease.</AbstractText></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Köhnlein</LastName><ForeName>Thomas</ForeName><Initials>T</Initials><AffiliationInfo><Affiliation>Hannover Medical School, Respiratory Medicine, Carl-Neuberg-Strasse 1, Hannover, Germany. koehnlein.thomas@mh-hannover.de</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Janciauskiene</LastName><ForeName>Sabina</ForeName><Initials>S</Initials></Author><Author ValidYN="Y"><LastName>Welte</LastName><ForeName>Tobias</ForeName><Initials>T</Initials></Author></AuthorList><Language>eng</Language><PublicationTypeList><PublicationType UI="D016428">Journal Article</PublicationType><PublicationType UI="D013485">Research Support, Non-U.S. Gov't</PublicationType></PublicationTypeList><ArticleDate DateType="Electronic"><Year>2010</Year><Month>07</Month><Day>26</Day></ArticleDate></Article><MedlineJournalInfo><Country>England</Country><MedlineTA>Ther Adv Respir Dis</MedlineTA><NlmUniqueID>101316317</NlmUniqueID><ISSNLinking>1753-4658</ISSNLinking></MedlineJournalInfo><ChemicalList><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="D014028">Tobacco Smoke Pollution</NameOfSubstance></Chemical><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="D000515">alpha 1-Antitrypsin</NameOfSubstance></Chemical></ChemicalList><CitationSubset>IM</CitationSubset><MeshHeadingList><MeshHeading><DescriptorName UI="D000328" MajorTopicYN="N">Adult</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D017668" MajorTopicYN="N">Age of Onset</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D000368" MajorTopicYN="N">Aged</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D001317" MajorTopicYN="N" Type="Geographic">Austria</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D003430" MajorTopicYN="N">Cross-Sectional Studies</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D057210" MajorTopicYN="N">Delayed Diagnosis</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D017079" MajorTopicYN="N">Exercise Tolerance</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D005260" MajorTopicYN="N">Female</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D005858" MajorTopicYN="N" Type="Geographic">Germany</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D006801" MajorTopicYN="N">Humans</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D007251" MajorTopicYN="N">Influenza, Human</DescriptorName><QualifierName UI="Q000517" MajorTopicYN="N">prevention & control</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D008297" MajorTopicYN="N">Male</DescriptorName></MeshHeading><MeshHeading><DescriptorName 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1-Antitrypsin</DescriptorName><QualifierName UI="Q000008" MajorTopicYN="Y">administration & dosage</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D019896" MajorTopicYN="N">alpha 1-Antitrypsin Deficiency</DescriptorName><QualifierName UI="Q000175" MajorTopicYN="N">diagnosis</QualifierName><QualifierName UI="Q000503" MajorTopicYN="Y">physiopathology</QualifierName></MeshHeading></MeshHeadingList></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="entrez"><Year>2010</Year><Month>7</Month><Day>28</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="pubmed"><Year>2010</Year><Month>7</Month><Day>28</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>2011</Year><Month>1</Month><Day>20</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate></History><PublicationStatus>ppublish</PublicationStatus><ArticleIdList><ArticleId IdType="pubmed">20660539</ArticleId><ArticleId IdType="pii">1753465810376407</ArticleId><ArticleId IdType="doi">10.1177/1753465810376407</ArticleId></ArticleIdList></PubmedData></pubmed><affiliations><list><country><li>Allemagne</li></country><region><li>Basse-Saxe</li></region><settlement><li>Hanovre</li></settlement></list><tree><noCountry><name sortKey="Janciauskiene, Sabina" sort="Janciauskiene, Sabina" uniqKey="Janciauskiene S" first="Sabina" last="Janciauskiene">Sabina Janciauskiene</name><name sortKey="Welte, Tobias" sort="Welte, Tobias" uniqKey="Welte T" first="Tobias" last="Welte">Tobias Welte</name></noCountry><country name="Allemagne"><region name="Basse-Saxe"><name sortKey="Kohnlein, Thomas" sort="Kohnlein, Thomas" uniqKey="Kohnlein T" first="Thomas" last="Köhnlein">Thomas Köhnlein</name></region></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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