Obstacles to Early Diagnosis and Treatment of Alpha-1 Antitrypsin Deficiency: Current Perspectives

Mark Quinn,1 Paul Ellis,1 Anita Pye,1 Alice M Turner1,2 1Institute of Applied Health Research, University of Birmingham, Birmingham, UK; 2University Hospitals Birmingham, Birmingham, UKCorrespondence: Alice M TurnerInstitute of Applied Health Research, University of Birmingham, Edgbaston, Birmingham...

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Autores principales:	Quinn M, Ellis P, Pye A, Turner AM
Formato:	article
Lenguaje:	EN
Publicado:	Dove Medical Press 2020
Materias:	emphysema cirrhosis diagnostic screening programs chronic obstructive pulmonary disease Therapeutics. Pharmacology RM1-950
Acceso en línea:	https://doaj.org/article/0be8a60cd3e949f8a31f2c091b2ef2b2
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spelling	oai:doaj.org-article:0be8a60cd3e949f8a31f2c091b2ef2b22021-12-02T16:18:42ZObstacles to Early Diagnosis and Treatment of Alpha-1 Antitrypsin Deficiency: Current Perspectives1178-203Xhttps://doaj.org/article/0be8a60cd3e949f8a31f2c091b2ef2b22020-12-01T00:00:00Zhttps://www.dovepress.com/obstacles-to-early-diagnosis-and-treatment-of-alpha-1-antitrypsin-defi-peer-reviewed-article-TCRMhttps://doaj.org/toc/1178-203XMark Quinn,1 Paul Ellis,1 Anita Pye,1 Alice M Turner1,2 1Institute of Applied Health Research, University of Birmingham, Birmingham, UK; 2University Hospitals Birmingham, Birmingham, UKCorrespondence: Alice M TurnerInstitute of Applied Health Research, University of Birmingham, Edgbaston, Birmingham B15 2TT, UKTel +44 121 371 3885Email a.m.turner@bham.ac.ukAbstract: This review summarizes the current research and outlooks regarding the obstacles to diagnosing and treating early alpha-1-antitrypsin deficiency (AATD). It draws on prior systematic reviews and expert surveys to discover precisely what difficulties exist in early diagnosis and treatment of AATD and elucidate potential solutions to ease these difficulties. The perceived rarity of AATD may translate to a condition poorly understood by primary care physicians, and even many respiratory physicians, which results in opportunities for diagnosis being missed, especially in mild or asymptomatic patients. There are diagnostic techniques involving biomarkers and home testing methods which could improve the rate of early diagnosis. With respect to treatment, AATD involves treating two separate pathologies, lung disease and liver disease. The only specific AATD treatment, augmentation therapy, has proven ability in treating lung disease but not liver disease. Alpha-1-antitrypsin (AAT) synthesized in the liver can form damaging polymers that also result in reduced circulating AAT levels and, whilst liver transplantation is used to effectively treat AATD, it is inappropriate in early disease. Novel therapeutic areas such as gene editing and increasing autophagy are therefore being researched as future treatments. Ultimately, diagnosis and treatment are intrinsically linked in AATD, with earlier diagnosis leading to better treatment options and thus better patient outcomes.Keywords: emphysema, cirrhosis, diagnostic screening programs, chronic obstructive pulmonary diseaseQuinn MEllis PPye ATurner AMDove Medical Pressarticleemphysemacirrhosisdiagnostic screening programschronic obstructive pulmonary diseaseTherapeutics. PharmacologyRM1-950ENTherapeutics and Clinical Risk Management, Vol Volume 16, Pp 1243-1255 (2020)
institution	DOAJ
collection	DOAJ
language	EN
topic	emphysema cirrhosis diagnostic screening programs chronic obstructive pulmonary disease Therapeutics. Pharmacology RM1-950
spellingShingle	emphysema cirrhosis diagnostic screening programs chronic obstructive pulmonary disease Therapeutics. Pharmacology RM1-950 Quinn M Ellis P Pye A Turner AM Obstacles to Early Diagnosis and Treatment of Alpha-1 Antitrypsin Deficiency: Current Perspectives
description	Mark Quinn,1 Paul Ellis,1 Anita Pye,1 Alice M Turner1,2 1Institute of Applied Health Research, University of Birmingham, Birmingham, UK; 2University Hospitals Birmingham, Birmingham, UKCorrespondence: Alice M TurnerInstitute of Applied Health Research, University of Birmingham, Edgbaston, Birmingham B15 2TT, UKTel +44 121 371 3885Email a.m.turner@bham.ac.ukAbstract: This review summarizes the current research and outlooks regarding the obstacles to diagnosing and treating early alpha-1-antitrypsin deficiency (AATD). It draws on prior systematic reviews and expert surveys to discover precisely what difficulties exist in early diagnosis and treatment of AATD and elucidate potential solutions to ease these difficulties. The perceived rarity of AATD may translate to a condition poorly understood by primary care physicians, and even many respiratory physicians, which results in opportunities for diagnosis being missed, especially in mild or asymptomatic patients. There are diagnostic techniques involving biomarkers and home testing methods which could improve the rate of early diagnosis. With respect to treatment, AATD involves treating two separate pathologies, lung disease and liver disease. The only specific AATD treatment, augmentation therapy, has proven ability in treating lung disease but not liver disease. Alpha-1-antitrypsin (AAT) synthesized in the liver can form damaging polymers that also result in reduced circulating AAT levels and, whilst liver transplantation is used to effectively treat AATD, it is inappropriate in early disease. Novel therapeutic areas such as gene editing and increasing autophagy are therefore being researched as future treatments. Ultimately, diagnosis and treatment are intrinsically linked in AATD, with earlier diagnosis leading to better treatment options and thus better patient outcomes.Keywords: emphysema, cirrhosis, diagnostic screening programs, chronic obstructive pulmonary disease
format	article
author	Quinn M Ellis P Pye A Turner AM
author_facet	Quinn M Ellis P Pye A Turner AM
author_sort	Quinn M
title	Obstacles to Early Diagnosis and Treatment of Alpha-1 Antitrypsin Deficiency: Current Perspectives
title_short	Obstacles to Early Diagnosis and Treatment of Alpha-1 Antitrypsin Deficiency: Current Perspectives
title_full	Obstacles to Early Diagnosis and Treatment of Alpha-1 Antitrypsin Deficiency: Current Perspectives
title_fullStr	Obstacles to Early Diagnosis and Treatment of Alpha-1 Antitrypsin Deficiency: Current Perspectives
title_full_unstemmed	Obstacles to Early Diagnosis and Treatment of Alpha-1 Antitrypsin Deficiency: Current Perspectives
title_sort	obstacles to early diagnosis and treatment of alpha-1 antitrypsin deficiency: current perspectives
publisher	Dove Medical Press
publishDate	2020
url	https://doaj.org/article/0be8a60cd3e949f8a31f2c091b2ef2b2
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Obstacles to Early Diagnosis and Treatment of Alpha-1 Antitrypsin Deficiency: Current Perspectives

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