Alpha-1 antitrypsin deficiency: outstanding questions and future directions

BACKGROUND: Alpha-1 antitrypsin deficiency (AATD) is a rare hereditary condition that leads to decreased circulating alpha-1 antitrypsin (AAT) levels, significantly increasing the risk of serious lung and/or liver disease in children and adults, in which some aspects remain unresolved. METHODS: In t...

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Authors: Torres-Durán, María, Lopez-Campos, Jose Luis, Barrecheguren, Miriam, Miravitlles, Marc, Martinez-Delgado, Beatriz, Castillo, Silvia, Escribano, Amparo, Baloira, Adolfo, Navarro-Garcia, María Mercedes, Pellicer, Daniel, Bañuls, Lucía, Magallón, María, Casas, Francisco, Dasí, Francisco
Format: article
Publication Date:2018
Country:España
Institution:Instituto de Salud Carlos III (ISCIII)
Repository:Repisalud
Language:English
OAI Identifier:oai:repisalud.isciii.es:20.500.12105/9755
Online Access:http://hdl.handle.net/20.500.12105/9755
Access Level:Open access
Keyword:Animals
Fibrosis
Humans
Panniculitis
Pulmonary Disease, Chronic Obstructive
Vasculitis
alpha 1-Antitrypsin
alpha 1-Antitrypsin Deficiency
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spelling Alpha-1 antitrypsin deficiency: outstanding questions and future directionsTorres-Durán, MaríaLopez-Campos, Jose LuisBarrecheguren, MiriamMiravitlles, MarcMartinez-Delgado, BeatrizCastillo, SilviaEscribano, AmparoBaloira, AdolfoNavarro-Garcia, María MercedesPellicer, DanielBañuls, LucíaMagallón, MaríaCasas, FranciscoDasí, FranciscoAnimalsFibrosisHumansPanniculitisPulmonary Disease, Chronic ObstructiveVasculitisalpha 1-Antitrypsinalpha 1-Antitrypsin DeficiencyBACKGROUND: Alpha-1 antitrypsin deficiency (AATD) is a rare hereditary condition that leads to decreased circulating alpha-1 antitrypsin (AAT) levels, significantly increasing the risk of serious lung and/or liver disease in children and adults, in which some aspects remain unresolved. METHODS: In this review, we summarise and update current knowledge on alpha-1 antitrypsin deficiency in order to identify and discuss areas of controversy and formulate questions that need further research. RESULTS: 1) AATD is a highly underdiagnosed condition. Over 120,000 European individuals are estimated to have severe AATD and more than 90% of them are underdiagnosed. CONCLUSIONS: 2) Several clinical and etiological aspects of the disease are yet to be resolved. New strategies for early detection and biomarkers for patient outcome prediction are needed to reduce morbidity and mortality in these patients; 3) Augmentation therapy is the only specific approved therapy that has shown clinical efficacy in delaying the progression of emphysema. Regrettably, some countries reject registration and reimbursement for this treatment because of the lack of larger randomised, placebo-controlled trials. 4) Alternative strategies are currently being investigated, including the use of gene therapy or induced pluripotent stem cells, and non-augmentation strategies to prevent AAT polymerisation inside hepatocytes.BioMed Central (BMC)Unión Europea. Fondo Europeo de Desarrollo Regional (FEDER/ERDF)Instituto de Salud Carlos III20202020-04-2720182018-01-0120182018-01-01research articlehttp://purl.org/coar/resource_type/c_2df8fbb1VoRhttp://purl.org/coar/version/c_970fb48d4fbd8a85info:eu-repo/semantics/articleapplication/pdfhttp://hdl.handle.net/20.500.12105/9755reponame:Repisaludinstname:Instituto de Salud Carlos III (ISCIII)Inglésengopen accesshttp://purl.org/coar/access_right/c_abf2Atribución 4.0 Internacionalhttp://creativecommons.org/licenses/by/4.0/info:eu-repo/semantics/openAccessoai:repisalud.isciii.es:20.500.12105/97552026-06-12T12:43:37Z
dc.title.none.fl_str_mv Alpha-1 antitrypsin deficiency: outstanding questions and future directions
title Alpha-1 antitrypsin deficiency: outstanding questions and future directions
spellingShingle Alpha-1 antitrypsin deficiency: outstanding questions and future directions
Torres-Durán, María
Animals
Fibrosis
Humans
Panniculitis
Pulmonary Disease, Chronic Obstructive
Vasculitis
alpha 1-Antitrypsin
alpha 1-Antitrypsin Deficiency
title_short Alpha-1 antitrypsin deficiency: outstanding questions and future directions
title_full Alpha-1 antitrypsin deficiency: outstanding questions and future directions
title_fullStr Alpha-1 antitrypsin deficiency: outstanding questions and future directions
title_full_unstemmed Alpha-1 antitrypsin deficiency: outstanding questions and future directions
title_sort Alpha-1 antitrypsin deficiency: outstanding questions and future directions
dc.creator.none.fl_str_mv Torres-Durán, María
Lopez-Campos, Jose Luis
Barrecheguren, Miriam
Miravitlles, Marc
Martinez-Delgado, Beatriz
Castillo, Silvia
Escribano, Amparo
Baloira, Adolfo
Navarro-Garcia, María Mercedes
Pellicer, Daniel
Bañuls, Lucía
Magallón, María
Casas, Francisco
Dasí, Francisco
author Torres-Durán, María
author_facet Torres-Durán, María
Lopez-Campos, Jose Luis
Barrecheguren, Miriam
Miravitlles, Marc
Martinez-Delgado, Beatriz
Castillo, Silvia
Escribano, Amparo
Baloira, Adolfo
Navarro-Garcia, María Mercedes
Pellicer, Daniel
Bañuls, Lucía
Magallón, María
Casas, Francisco
Dasí, Francisco
author_role author
author2 Lopez-Campos, Jose Luis
Barrecheguren, Miriam
Miravitlles, Marc
Martinez-Delgado, Beatriz
Castillo, Silvia
Escribano, Amparo
Baloira, Adolfo
Navarro-Garcia, María Mercedes
Pellicer, Daniel
Bañuls, Lucía
Magallón, María
Casas, Francisco
Dasí, Francisco
author2_role author
author
author
author
author
author
author
author
author
author
author
author
author
dc.contributor.none.fl_str_mv Unión Europea. Fondo Europeo de Desarrollo Regional (FEDER/ERDF)
Instituto de Salud Carlos III
dc.subject.none.fl_str_mv Animals
Fibrosis
Humans
Panniculitis
Pulmonary Disease, Chronic Obstructive
Vasculitis
alpha 1-Antitrypsin
alpha 1-Antitrypsin Deficiency
topic Animals
Fibrosis
Humans
Panniculitis
Pulmonary Disease, Chronic Obstructive
Vasculitis
alpha 1-Antitrypsin
alpha 1-Antitrypsin Deficiency
description BACKGROUND: Alpha-1 antitrypsin deficiency (AATD) is a rare hereditary condition that leads to decreased circulating alpha-1 antitrypsin (AAT) levels, significantly increasing the risk of serious lung and/or liver disease in children and adults, in which some aspects remain unresolved. METHODS: In this review, we summarise and update current knowledge on alpha-1 antitrypsin deficiency in order to identify and discuss areas of controversy and formulate questions that need further research. RESULTS: 1) AATD is a highly underdiagnosed condition. Over 120,000 European individuals are estimated to have severe AATD and more than 90% of them are underdiagnosed. CONCLUSIONS: 2) Several clinical and etiological aspects of the disease are yet to be resolved. New strategies for early detection and biomarkers for patient outcome prediction are needed to reduce morbidity and mortality in these patients; 3) Augmentation therapy is the only specific approved therapy that has shown clinical efficacy in delaying the progression of emphysema. Regrettably, some countries reject registration and reimbursement for this treatment because of the lack of larger randomised, placebo-controlled trials. 4) Alternative strategies are currently being investigated, including the use of gene therapy or induced pluripotent stem cells, and non-augmentation strategies to prevent AAT polymerisation inside hepatocytes.
publishDate 2018
dc.date.none.fl_str_mv 2018
2018-01-01
2018
2018-01-01
2020
2020-04-27
dc.type.none.fl_str_mv research article
http://purl.org/coar/resource_type/c_2df8fbb1
VoR
http://purl.org/coar/version/c_970fb48d4fbd8a85
dc.type.openaire.fl_str_mv info:eu-repo/semantics/article
format article
dc.identifier.none.fl_str_mv http://hdl.handle.net/20.500.12105/9755
url http://hdl.handle.net/20.500.12105/9755
dc.language.none.fl_str_mv Inglés
eng
language_invalid_str_mv Inglés
language eng
dc.rights.none.fl_str_mv open access
http://purl.org/coar/access_right/c_abf2
Atribución 4.0 Internacional
http://creativecommons.org/licenses/by/4.0/
dc.rights.openaire.fl_str_mv info:eu-repo/semantics/openAccess
rights_invalid_str_mv open access
http://purl.org/coar/access_right/c_abf2
Atribución 4.0 Internacional
http://creativecommons.org/licenses/by/4.0/
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv application/pdf
dc.publisher.none.fl_str_mv BioMed Central (BMC)
publisher.none.fl_str_mv BioMed Central (BMC)
dc.source.none.fl_str_mv reponame:Repisalud
instname:Instituto de Salud Carlos III (ISCIII)
instname_str Instituto de Salud Carlos III (ISCIII)
reponame_str Repisalud
collection Repisalud
repository.name.fl_str_mv
repository.mail.fl_str_mv
_version_ 1869419783812808704
score 15.81155

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