The symptoms are similar, but the causes are fundamentally different: shortness of breath, severe shortness of breath, coughing and sputum are often attributed to heavy smoking or asthma. However, such breathing difficulties can also be an indication of a rare hereditary disease. In alpha-1 antitrypsin deficiency (AAT deficiency), or alpha-1 protease inhibitor (API) deficiency, the body lacks an important protein that protects lung tissue from attack by certain degrading enzymes. In the worst cases, emphysema, or chronic hyperinflation of the lungs, can result.
AAT deficiency: dangerous, but little known
The disease is still far too little known – by sufferers and doctors alike. As a result, many people with AAT deficiency are not treated or are treated incorrectly. But only with optimal treatment is the life expectancy of those affected between 60 and 68 years; for smokers, it is significantly lower at circa 50 years. Therefore, it is important that the disease is detected and treated early.
Genetic disease
There are an estimated 10,000 people living in Germany who have severe AAT-magel. However, because the symptoms are similar to those of asthma and chronic bronchitis, the disease is still severely underdiagnosed. A correct diagnosis is only made in about 25 percent of cases in Germany. AAT deficiency is genetic: mutated genetic information causes decreased or defective synthesis and release of alpha-1-antitrypsin in its effective form. The result is a reduced level in the blood serum, which is associated with a high risk of developing emphysema. Important tissue structures such as the alveoli remain unprotected against protein-degrading enzymes. The lungs are then gradually destroyed. Affected individuals between the ages of 30 and 40 are at particularly high risk of developing severe lung damage. The liver – where AAT is normally synthesized – is also affected by AAT deficiency. Instead of AAT, it produces a large amount of mutated proteins that cannot be processed. As a result, around 25 percent of people with AAT deficiency develop cirrhosis of the liver. The risk of developing liver cancer is also significantly higher.
Early diagnosis and treatment important
Because once damage to the lungs has occurred, it cannot be reversed, early diagnosis and treatment are quite crucial. Thus, preventive measures can be taken in time: stop smoking and avoid air pollution, dust exposure, stressful situations, and physically demanding activities. Those affected must also beware of additionally stressful infections.
Who should get tested for AAT deficiency?
The following groups of people should get tested for AAT:
- Definitely all COPD patients and asthmatics for whom maximal asthma therapy has not helped.
- In addition, patients with dilated bronchi, even if they have no particular risk factors.
- Since AAT deficiency is a hereditary disease, individuals who have a relative with AAT deficiency should also be screened.
The disease is easily detectable by blood test.
Treatable well with infusions
In patients with severe AAT deficiency, the missing protective protein can be replaced by infusions. The AAT for this so-called substitution therapy comes from the blood plasma of healthy people. The infusion raises the AAT level in the blood serum to such an extent that the alveoli are not further destroyed. This stabilizes lung function and prevents existing symptoms from worsening. The therapy must be performed once a week and takes about 15 minutes with the most modern preparation.
Organ transplantation as a life-saving measure
In cases of severely advanced sequelae of AAT deficiency, organ transplantation may be a life-saving measure. Specifically, the sequelae of AAT deficiency affect the lungs as well as the liver. Severe sequelae of AAT deficiency are mainly felt in the lungs. If all other treatment options have been exhausted, those affected can be helped by a lung transplant under certain conditions.In the case of a liver severely damaged by sequelae, liver transplantation is a plausible and usually life-prolonging method. Since AAT can be produced by the transplanted liver after only one to three days, such a transplant usually means a cure. However, lung damage that has already occurred as a result of AAT deficiency cannot be revised by a new liver.
