Prophylaxis
There is no real prophylaxis, since the disease is inherited. Those affected should not smoke, as it makes it more difficult and puts even more strain on the lungs. Alcohol should also be avoided due to the strain on the liver.
Is alpha-1-antitrypsin deficiency hereditary?
Alpha-1-antitrypsin deficiency is inherited. The corresponding gene sequence of this enzyme is located on the 14th chromosome. If the gene sequence contains a mutation, the sequence can no longer be read correctly and the enzyme is formed incorrectly.
The severity of the disease is therefore variable. The mutation is inherited, i.e. passed on from the mother or father. A patient has the full expression of the disease when a defect is inherited from the paternal and maternal side. The extent to which patients are affected therefore depends on the genetics, but also on external influences such as smoking. – Right lung
- Trachea (windpipe)
- Tracheal bifurcation (carina)
- Left lung
Summary
Alpha-1-antitrypsin deficiency is a hereditary metabolic disorder which mainly causes changes in lung tissue. The disease occurs with a frequency of 1:2000. Due to the lack of this enzyme, the inhibitory effect on protein-splitting enzymes is absent.
Due to this deficiency the own lung tissue is degraded or digested. This leads to pulmonary emphysema (also coughing and shortness of breath) and, with additional liver infestation (10-20%), to hepatitis (jaundice). The diagnosis is made by means of a blood analysis.
Treatment is by means of substitution therapy, i.e. alpha-1-antitrypsin is administered artificially. The missing protein is administered intravenously (through the vein). There is no prophylaxis.
