COPD: effective help with genetic causes
All content is checked by medical journalists.MunichIn addition to an excruciating cough, pulmonary emphysema is a common complication of advanced COPD. The alveoli gradually collapse and the lungs expand. It mainly affects smokers - but sometimes people with a genetic defect as well. Research shows that there is an effective therapy for them.
Some people are genetically deficient in the protein alpha-1-antitrypsin (AAT). It is usually made in the liver and its job is to protect the lung tissue. The blood protein inactivates so-called proteases. These are enzymes that are increasingly formed in inflammation and chronic irritation and break down tissue - especially in the lungs. If the protective influence of AAT is missing, the lungs are gradually damaged. Increasing shortness of breath leading to the need for a lung transplant and a greatly reduced life expectancy are typical fate of the patients.
Protective protein by infusion
It has long been suspected that an artificial supply of the protective alpha-1-antitrypsin could help them. The deficiency is compensated for lifelong by intravenous administration - and the earlier you start, the lower the risk of developing severe emphysema.
But for a long time it was unclear whether the treatment could actually protect. Because the first small changes in the lung tissue have so far been difficult to measure, the respiratory function tests used only help with the diagnosis when the disease has progressed further.
Now researchers around Kenneth Chapman have for the first time been able to demonstrate the effectiveness of the administration of alpha-1 antitrypsin. To do this, they checked the condition of the lungs of those affected with a computer tomography. This examination enabled them to precisely determine the density of the lung tissue. “This allowed us to detect changes much earlier than would have been possible with a pulmonary function test,” says study leader Chapman.
Slowed down shrinkage
The researchers recruited 200 patients with alpha-1 antitrypsin deficiency for the study. They received either the drug or a placebo for 24 months. At the end of the study, the scientists were able to show that the administration of alpha-1 antitrypsin actually slowed down the gradual breakdown of lung tissue.
The results of the study can encourage treating physicians and their patients to carry out appropriate substitution treatment in a timely and consistent manner. "Not only does the therapy preserve lung tissue, it can probably give patients more years of life," says Chapman.
The drug can only be used to help those patients whose lungs are attacked due to the lack of ATT. If a person falls ill with chronic obstructive pulmonary disease (COPD) with emphysema as a result of tobacco consumption, the treatment will not work.
AAT deficiency is not uncommon: it is about as common in Europe as type 1 diabetes. Experts estimate that up to five percent of COPD patients suffer from it. Only about every 20th person affected knows about their genetic defect. (cf)
Source:
Chapman, Kenneth R et al .: Intravenous augmentation treatment and lung density in severe a1 antitrypsin deficiency (RAPID): a randomized, double-blind, placebo-controlled trial. The Lancet, May 28, 2015
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