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Lessons from the past : some histories of Alpha-1 Antitrypsin deficiency before its discovery
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Perciaccante, A., Charlier, P., Negri, C., Coralli, A., Appenzeller, O. and Bianucci, Raffaella (2018) Lessons from the past : some histories of Alpha-1 Antitrypsin deficiency before its discovery. COPD: Journal of Chronic Obstructive Pulmonary Disease, 15 (1). pp. 1-3. doi:10.1080/15412555.2017.1421151 ISSN 1541-2563.
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Official URL: http://doi.org/10.1080/15412555.2017.1421151
Abstract
A1AT deficiency- a genetically inherited autosomal codominant disease with more than 120 identified alleles- was first identified by Laurell and Eriksson in 1963. The most common hereditary disorder in adults, A1AT causes an increased risk of developing pulmonary emphysema and liver disease. In A1AT patients, lung disease generally presents at a younger age than “usual” chronic obstructive pulmonary disease (COPD) and it may be misdiagnosed as asthma. Because A1AT deficiency patients can show the same clinical features as non-deficient COPD (including increased evidence of bronchiectasis, frequent exacerbations, impaired health status and a degree of reversibility of airflow obstruction), the World Health Organization recommend to test every patient with a diagnosis of COPD or adult-onset asthma for A1AT deficiency. Despite these recommendations, the epidemiology of A1AT deficiency remains uncertain. Although recently discovered A1AT deficiency has affected human populations since antiquity. By using scientific data and recently studied skeletons and historical cases, we show that it is now possible to reconstruct the natural history of pathological processes, whether due to genetic, infectious or environmental factors. We believe that the evolution of disease in patients and research to elucidate the relationship between social science and environmental are pertinent contemporaneous subjects.
Item Type: | Journal Article | ||||||
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Divisions: | Faculty of Science, Engineering and Medicine > Medicine > Warwick Medical School > Biomedical Sciences > Microbiology & Infection Faculty of Science, Engineering and Medicine > Medicine > Warwick Medical School |
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SWORD Depositor: | Library Publications Router | ||||||
Journal or Publication Title: | COPD: Journal of Chronic Obstructive Pulmonary Disease | ||||||
Publisher: | Informa UK Limited | ||||||
ISSN: | 1541-2563 | ||||||
Official Date: | 22 February 2018 | ||||||
Dates: |
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Volume: | 15 | ||||||
Number: | 1 | ||||||
Page Range: | pp. 1-3 | ||||||
DOI: | 10.1080/15412555.2017.1421151 | ||||||
Status: | Peer Reviewed | ||||||
Publication Status: | Published | ||||||
Reuse Statement (publisher, data, author rights): | ** From Crossref via Jisc Publications Router. | ||||||
Access rights to Published version: | Restricted or Subscription Access |
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