ReviewTherapeutics and clinical risk management2020
Obstacles to Early Diagnosis and Treatment of Alpha-1 Antitrypsin Deficiency: Current Perspectives.
Review in Therapeutics and clinical risk management, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers, 1 of them a synthesis that pooled it.
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Who cites it
16 citing papers in PubMed, 1 synthesis or guideline pooled it, 24 citations in OpenAlex.
- Disease burden associated with alpha-1 antitrypsin deficiency: systematic and structured literature reviews.European respiratory review : an official journal of the European Respiratory Society · 2022Pooled it
- Delayed Diagnosis of Alpha-1 Antitrypsin Deficiency in an Elderly Patient.Diagnostics (Basel, Switzerland) · 2026Article
- Alpha-1 Antitrypsin Deficiency: Current Landscape of Detection, Management, and Treatment.Advances in therapy · 2026Review
- Alpha-1 Antitrypsin Deficiency-Associated Chronic Obstructive Pulmonary Disease.Medicina (Kaunas, Lithuania) · 2026Review
- Optimising pulmonary rehabilitation for αERJ open research · 2026Article
- Clinical characteristics of AATD-related COPD patients vary with age at diagnosis: data from the EARCO international registry.BMC pulmonary medicine · 2025Article
- Can Proteomics Play a Significant Role in the Identification of Biomarkers for Alpha1-Antitrypsin Deficiency?International journal of molecular sciences · 2025Review
- Clinical and Economic Outcomes in Patients With Alpha-1 Antitrypsin Deficiency in a US Medicare Advantage Population.Journal of health economics and outcomes research · 2025Article
- A Multimodal Intervention to Improve Guideline-Based Screening for Alpha-1 Antitrypsin Deficiency in a Community Health Setting.Chronic obstructive pulmonary diseases (Miami, Fla.) · 2024Article
- Characteristics associated with SF-36 in alpha-1 antitrypsin deficiency-associated COPD: a cross-sectional analysis.BMC pulmonary medicine · 2024Article
- The impact of diagnostic delay on survival in alpha-1-antitrypsin deficiency: results from the Austrian Alpha-1 Lung Registry.Respiratory research · 2023Article
- Estimating the Prevalence of AATD Patients in the UK to Identify Underdiagnosis and Determine the Eligibility for Potential Augmentation Therapy.International journal of chronic obstructive pulmonary disease · 2023Article
- Assessment of Patient Perspectives and Barriers to Self-Infusion of Augmentation Therapy for Alpha-1 Antitrypsin Deficiency During the COVID-19 Pandemic.Pulmonary therapy · 2022Article
- Structural characterization and conformational dynamics of alpha-1 antitrypsin pathogenic variants causing alpha-1-antitrypsin deficiency.Frontiers in molecular biosciences · 2022Article
- Current views in chronic obstructive pulmonary disease pathogenesis and management.Saudi pharmaceutical journal : SPJ : the official publication of the Saudi Pharmaceutical Society · 2021Review
- Advancing the understanding and treatment of lung pathologies associated with alpha 1 antitrypsin deficiency.Therapeutic advances in respiratory diseaseReview
Corrections and comments
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Authors and funding
4 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
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.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.