AI Article Synopsis
- - Alpha-1 antitrypsin deficiency (AATD) is a rare genetic disorder that decreases levels of a protein essential for lung and liver health, potentially leading to severe diseases in both children and adults.
- - Patients with AATD experience issues like misdiagnosis, varied symptoms, and limited treatment options, highlighting the need for early detection and better predictive biomarkers.
- - Currently, augmentation therapy is the only approved treatment to slow emphysema progression, but researchers are exploring alternatives like gene therapy and stem cells to improve outcomes for patients.
Article Abstract
Alpha-1 antitrypsin deficiency (AATD) is a rare hereditary condition caused by decreased plasma and tissue levels of alpha-1 antitrypsin (AAT) that can lead to serious lung and liver disease in children and adults. AATD patients face challenges such as under diagnosis, clinical variability, and limited treatment options for liver disease. Early detection and biomarkers for predicting outcomes are needed to improve patient outcome. Currently, the only approved pharmacological therapy is augmentation therapy, which can delay the progression of emphysema. However, alternative strategies such as gene therapy, induced pluripotent stem cells, and prevention of AAT polymerization inside hepatocytes are being investigated. This review aims to summarize and update current knowledge on AATD, identify areas of controversy, and formulate questions for further research.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1016/j.medcli.2023.10.014 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!