Related Experiment Video
Updated: Sep 4, 2025
10:16
In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease
Published on: December 20, 2017
8.2K
Expert Perspectives on the Management of Alpha 1-Antitrypsin Deficiency
Bebiana Conde1, Filipa Costa2, Joana Gomes3
1Centro Hospitalar Trás-os-Montes e Alto Douro. Vila Real; Universidade de Trás-os-Montes e Alto Douro. Vila Real. Portugal.
Acta Medica Portuguesa
|July 18, 2022
Summary
Alpha 1-antitrypsin deficiency (AATD) is an underdiagnosed genetic disorder causing lung and liver disease. This review discusses expert perspectives on AATD diagnosis, COVID-19
Area of Science:
- Genetics and Medicine
- Pulmonology
- Hepatology
Background:
- Alpha 1-antitrypsin deficiency (AATD) is an inherited autosomal codominant disorder.
- It predisposes individuals to lung and/or liver disease.
- AATD is a frequent genetic disorder worldwide but remains underdiagnosed.
Purpose of the Study:
- To review current scientific literature on AATD management.
- To present Portuguese expert perspectives on key AATD issues.
- To address diagnostic, therapeutic, and quality-of-life aspects of AATD.
Main Methods:
- Review of scientific publications.
- Consensus discussion among Portuguese experts.
- Analysis of AATD management strategies.
Main Results:
- Guidelines exist but gaps remain, particularly regarding evidence for certain management aspects.
- Expert opinions cover pre- and neonatal diagnosis, COVID-19 impact, and replacement therapy in lung transplant recipients.
- Alternative treatment strategies for improving patient quality of life are explored.
Conclusions:
- Further research is needed to address evidence gaps in AATD management.
- Expert consensus provides valuable insights for current clinical practice.
- Optimizing diagnosis and treatment is crucial for improving outcomes in AATD patients.
Related Concept Videos
01:24Cystic Fibrosis: Management
218
Cystic fibrosis (CF) is an autosomal recessive disorder that predominantly affects individuals of Northern European descent, occurring at a rate of 1 in 3500. It is caused by a genetic mutation in a gene on chromosome 7, most commonly the ΔF508 mutation, that codes for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. This results in thicker mucus secretions and obstruction pathologies in multiple organs, including the lungs and sinuses.
Sinus disease and chronic...
Sinus disease and chronic...
218
01:29Chronic Pancreatitis II: Collaborative Care
124
The management of chronic pancreatitis is multifaceted, involving a comprehensive approach that includes thorough assessment, diagnostic testing, and a variety of management strategies.
Assessment:
Assessment:
124
01:29Chronic Obstructive Pulmonary Disease-V: Management
2.7K
Managing Chronic Obstructive Pulmonary Disease (COPD) involves a multifaceted approach to reduce symptoms, prevent exacerbations, improve overall health status, and slow disease progression. Key strategies include lifestyle modifications, pharmacotherapy, supportive therapies, and, in some cases, surgery. Here is an overview of the primary COPD management strategies:
Smoking Cessation
Smoking Cessation
2.7K
01:29Acute Respiratory Failure-V
192
The treatment for acute respiratory failure varies based on factors like the underlying cause, overall health, and severity. A collaborative healthcare team is essential for early detection, often through arterial blood gas analysis. Identifying the cause is the primary goal, with treatment strategies adjusted for ventilation/perfusion (V/Q) mismatch, shunting, or diffusion impairment.
Ensure that patients are monitored continuously for their response to therapy, including changes in...
Ensure that patients are monitored continuously for their response to therapy, including changes in...
192
01:29Cardiomyopathy V: Interprofessional Care
30
Managing cardiomyopathy involves addressing underlying or precipitating causes, treating heart failure with medications, and implementing dietary changes and a balanced exercise and rest regimen.Lifestyle ModificationsCardiomyopathy patients should adopt a low-sodium diet to reduce fluid retention and manage heart failure. A personalized exercise and rest plan helps maintain physical fitness without overstraining the heart. Avoiding alcohol and tobacco is essential to prevent further damage to...
30
01:26COPD: Management Using Bronchodilators and Corticosteroids
288
Chronic obstructive pulmonary isease (COPD) involves a group of progressive lung disorders characterized by persistent airflow limitation and chronic respiratory symptoms. Asthma-COPD Overlap Syndrome (ACOS), encompassing features of both asthma and Chronic obstructive pulmonary disease (COPD), is a group of progressive lung disorders that includes chronic bronchitis, emphysema, and refractory (non-reversible) asthma. ACOS leads to complex clinical presentations that combine the inflammatory...
288