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Alpha-1 Antitrypsin Deficiency: a Rare Disease?
Roxana Cortes-Lopez1, Igor Barjaktarevic2
1Division of Pulmonary and Critical Care Medicine, David Geffen School of Medicine at UCLA, 10833 Le Conte Avenue, CHS, Los Angeles, CA, 90095, USA.
Current Allergy and Asthma Reports
|June 24, 2020
Summary
Alpha-1 antitrypsin deficiency (AATD) is a common genetic disorder, not a rare disease, predisposing individuals to lung and liver conditions. Early diagnosis and intervention are key to managing this inherited disorder.
Area of Science:
- Genetics
- Pulmonology
- Hepatology
Background:
- Alpha-1 antitrypsin deficiency (AATD) is a common genetic disorder with a broad clinical spectrum.
- It predisposes individuals to lung and liver diseases, ranging from asymptomatic to severe systemic conditions.
- Understanding AATD's multifaceted roles is crucial for predicting patient outcomes.
Purpose of the Study:
- To review the current knowledge on AATD presentations, diagnosis, and management.
- To highlight the clinical relevance of both severe and mild/moderate AATD states.
- To discuss current and novel therapeutic strategies for AATD.
Main Methods:
- Literature review of AATD.
- Analysis of clinical manifestations and diagnostic approaches.
- Evaluation of therapeutic interventions, including augmentation therapy and novel treatments.
Main Results:
- AATD presents a wide spectrum of clinical manifestations affecting primarily the lung and liver.
- Heterozygous states of AATD are relevant in the development of lung and liver disease.
- Current understanding of alpha-1 antitrypsin (AAT) functions (immunomodulatory, anti-infective, anti-inflammatory) is expanding but has not yet improved outcome prediction.
Conclusions:
- Clinicians must be familiar with the diverse presentations, diagnosis, and management of AATD.
- Novel therapeutic approaches are under investigation, offering hope for improved management.
- The perception of AATD should shift towards viewing it as a correctable inherited disorder.
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