The symptoms are similar, but the causes are very different: shortness of breath, severe shortness of breath, coughing and expectoration are often attributed to heavy smoking or asthma. Such breathing difficulties can also be an indication of a rare hereditary disease. Called the alpha-1-antitrypsin deficiency (AAT deficiency) or alpha-1 protease inhibitor deficiency (API deficiency), the body lacks an important protein that protects the lung tissue from the attack of certain degrading enzymes. In the worst case, pulmonary emphysema, that is a chronic hyperinflation of the lungs, can arise.
AAT deficiency: dangerous, but little known
The disease is still far too little known - for sufferers and doctors alike. The result: Many people with AAT deficiency are not treated or mistreated. But only with an optimal treatment is the life expectancy of those affected between 60 and 68 years, in smokers it is around 50 years, much lower. Therefore, it is important that the disease is detected and treated early.
It is estimated that around 10, 000 people in Germany have a severe AAT-Magel. However, since the symptoms are similar to those of asthma and chronic bronchitis, the disease is still severely underdiagnosed. A correct diagnosis is made in Germany only in about 25 percent of cases.
The AAT deficiency is genetically determined: The mutated genetic information causes a decreased or defective synthesis and release of alpha-1-antitrypsin in its active form. The result is a reduced level in the blood serum, which is associated with a high risk for the development of pulmonary emphysema.
Important tissue structures such as the alveoli remain unprotected against protein-degrading enzymes. The lungs are then gradually destroyed. For those between the ages of 30 and 40, the risk of developing severe lung damage is particularly high.
The liver - in which AAT is normally synthesized - is also affected by AAT deficiency. Instead of AAT, it produces a large amount of mutated proteins that can not be processed. As a result, approximately 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
Since lung damage can not be reversed, early diagnosis and treatment are crucial. In this way, preventive measures can be taken in good time: stop smoking and avoid air pollution, dust, stressful situations and physically strenuous activities. Affected persons also have to be wary of additional stressful infections.
Who should be tested for AAT deficiency?
The following groups of people should be tested for AAT:
- In any case, all COPD patients and asthmatics for whom maximum asthma therapy has not helped.
- In addition, patients with dilated bronchi, even if they have no special risk factors.
- Since the AAT deficiency is a hereditary disease, persons with a AAT-deficient status should also be examined.
The disease is easily detected by blood test.
To treat well with infusions
In patients with a 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 level of AAT in the blood serum to such an extent that it does not destroy the alveoli. This stabilizes the lung function and prevents existing complaints from worsening further.
The therapy must be carried out once a week and takes about 15 minutes with the most modern preparation.
Organ transplantation as a life-saving measure
In the case of severely advanced sequelae of AAT deficiency, organ transplantation can be a life-saving measure. Specifically, the sequelae of AAT deficiency affect the lungs and liver.
Serious consequential damage of AAT deficiency is mainly noticeable in the lungs. If all other treatment options are exhausted, sufferers can be helped under certain conditions by a lung transplantation.
In a liver severely damaged by sequelae, a liver transplant is a plausible and usually life-prolonging method. Since AAT can be produced after one to three days by the liver used, such a transplant usually means a cure. Already existing lung damage due to AAT deficiency can not be corrected by a new liver.