Due to a genetic defect, their lungs are affected. Patients are treated at a new centre in Brno
The first centre in Moravia to treat genetic diseases opens its doors to patients. Patients who lack the so-called alpha-1 antitrypsin (AAT) can now come to the Lung Clinic of the University Hospital Brno for relief. This is a substance that protects the lungs from destruction and from the development of a number of lung diseases.
"We are already admitting the first patients who have developed a deficiency of the AAT enzyme in April. Most of them are middle-aged and suffer from advanced forms of lung disease - most commonly chronic obstructive pulmonary disease (COPD). Regular treatment with the protein replacement will provide relief to the patients. It stops the progression of the disease that has developed due to AAT deficiency," explains Milan Sova, Head of the Clinic of Lung Diseases and Tuberculosis at the University Hospital Brno.
Due to a genetic defect, their lungs are affected. Patients are treated at a new centre in Brno
According to pneumologists, most people don't know they have little or no AAT. Levels of the substance can be read from the blood. Those who are deficient usually suffer from various lung diseases at a young age - around 30.
How quickly diseases manifest themselves also depends on other factors such as smoking or lifestyle. "The risk of lung disease is also affected by the level of the enzyme - the lower it is, the higher the chance of getting the disease. Thus, all those who struggle with severe asthma, bronchiectasis or just COPD in their youth or middle age should be alert - they should undergo tests for AAT levels," Sova stresses, adding that it is estimated that they will detect and treat the lower dozens of patients. The blood test can be performed by pulmonologists, general practitioners or allergists. Patients with AAT deficiency can only be treated at accredited centres.
There are two of them in the Czech Republic - in Prague and now in Brno. According to estimates, approximately one percent of all COPD patients suffer from AAT deficiency. Approximately 700,000 people in the Czech Republic have the disease.
What is AAT?
Alpha-1 antitrypsin deficiency (AAT) is an inherited disease caused by reduced levels (or complete absence) of this enzyme in the blood. The main manifestation of AAT deficiency is emphysema, in other words, emphysema or COPD. The risk of lung involvement depends on the level of the enzyme in the blood - the lower the level, the greater the risk of disease.
However, the lungs are not the only organ that can be affected. The liver is relatively often affected, with about a third of patients at risk of developing cirrhosis of the liver. Affection of other organs is rare, but skin, bowel or other organ involvement can be encountered.
Source: Thomayer University Hospital, Prague