In the past few years, Alpha-1 antitrypsin deficiency (A1AD or AATD) has gradually attracted the attention of the medical community. This is an inherited disease that often causes problems with the lungs and liver. According to data, many A1AD patients will begin to develop lung problems between the ages of 20 and 50, with the most common complication being chronic obstructive pulmonary disease (COPD).
According to experts, A1AD can cause symptoms such as shortness of breath and wheezing, and further increase the risk of lung infection.
A1AD is caused by a mutation in the SERPINA1 gene, which results in insufficient alpha-1 antitrypsin (A1AT) in the body. When A1AT levels are low, uninhibited neutral protease elastase attacks the elastic structure of the lungs, leading to damage to the alveolar walls and ultimately causing COPD.
According to the study, approximately 3% of COPD patients are thought to have A1AD. For these patients, external factors such as smoking and environmental dust can further deteriorate their lung health. The harm of smoking is particularly evident in the development of lung disease.
The diagnosis of A1AD mainly relies on blood tests to confirm the level and genotype of A1AT. Many patients may have been labeled as having COPD at the time of diagnosis because their A1AT deficiency was not recognized. Treatment includes bronchodilators, steroids, and, if necessary, antibiotics, especially if infection occurs.
Currently, intravenous injection of A1AT protein or lung transplantation in severe cases are both viable options for treatment.
For people with A1AD, quitting smoking is crucial. In addition, vaccination against influenza, pneumococcus, and hepatitis are also necessary preventive measures. Studies show that the average life expectancy of smokers is 50 years, while the life expectancy of non-smokers is almost normal.
A1AD is underdiagnosed and many patients may be affected by not being correctly identified. By raising awareness of this disease, we can better help patients get an early diagnosis and appropriate treatment options. Does this mean that when faced with similar chronic diseases, we should pay more attention to the importance of genetic testing and early identification?