Alpha-1 antitrypsin deficiency is a rare inherited disease
The main risks are in the lungs and liver.
It is about the deficiency of a protein that the liver produces and its main function is to protect the lungs, and, if the form of this protein were not adequate, it would remain in the liver and affect the lungs.
Generally, it can cause liver problems in both children and adults. Normally it is a disease whose symptoms are mild and it is difficult to diagnose, for this reason, it is diagnosed from a blood test and genetic test. In case of having lung conditions, other types of medical tests would be done to verify the existence of such disease.
Symptoms can manifest in the following ways:
- Rapid heartbeat when standing up
- Vision problems
- Frequent lung infection.
- Difficulty breathing and wheezing
Is this disease fatal?
The severity of lung disease varies greatly depending on the phenotype, smoking, and other factors.
Airflow obstruction occurs most often in men and in people with asthma, recurrent respiratory infections, occupational exposure to dust, and a family history of lung disease.
As a group, people with severe alpha-1 antitrypsin deficiency who have never smoked have a normal life expectancy and only moderate decline in lung function. The most common cause of death in alpha-1 antitrypsin deficiency is emphysema, followed by cirrhosis, often with hepatocellular carcinoma.
What is the medical treatment?
Treatment of lung disease consists of the administration of purified human alpha-1 antitrypsin, which can maintain the serum alpha-1 antitrypsin concentration above an ideal protective concentration.
Because emphysema causes permanent structural change, treatment cannot repair damaged lung structure or improve lung function, but it is given to stop progression. Treatment is expensive and therefore is reserved for patients who do not smoke and have two abnormal alleles, mild to moderately abnormal lung function, and confirmation of the diagnosis by serum alpha-1 antitrypsin levels. It is not indicated for patients who have severe disease or for whom one or both alleles are normal.
Smoking cessation, use of bronchodilators, and early treatment of respiratory infections are important for patients with alpha-1 antitrypsin deficiency and emphysema.
Treatment of liver disease is supportive. Enzyme replacement therapy is not helpful because the disease is caused by abnormal processing rather than enzyme deficiency.