The Brazilian Society of Pulmonology (SPP) warned this Monday, February 23, that the deficiency of the alpha-1 antitrypsin protein, produced by the liver, may be the cause of serious respiratory diseases, such as Chronic Obstructive Pulmonary Disease (COPD) and pulmonary emphysema.
“The main challenge (…) continues to be the lack of knowledge about the disease, both in the general population and among health professionals”, recalled Teresa Martin, from the Portuguese Society of Pulmonology (SPP), cited in a statement.
The person in charge said that, despite being a “relatively simple to diagnose” condition, it is still “little tested”, contributing to a “significant delay” in diagnosis.
Alpha-1 antitrypsin is a protein produced mainly by the liver, whose function is to protect the lungs from inflammation and progressive destruction of lung tissue.
In alpha-1 antitrypsin deficiency, a genetic change causes this protein to be absent or to exist at very low levels in the body, leaving the lungs more vulnerable to injury over time.
Therefore, this genetic condition increases the risk of developing chronic respiratory disease, “and may also be associated with liver disease due to the accumulation of defective protein in the liver”, explained the pulmonologist.
Shortness of breath, persistent cough, frequent respiratory infections, difficult-to-control asthma or the diagnosis of COPD or emphysema – including in non-smokers or in the absence of known risk factors – are, according to the SPP, “warning signs” that should lead the person to consider alpha-1 antitrypsin deficiency.
“As they are often indistinguishable from other more common respiratory diseases, these signs can contribute to delays in diagnosis”, warned the specialist, remembering that early diagnosis can change the prognosis of the disease.
Identifying this condition in a timely manner allows you to implement essential preventive measures (such as avoiding tobacco and other harmful exposures) and initiate adequate monitoring, with an impact on the evolution of the respiratory disease.
Teresa Martin recalled that there is specific therapy for this condition and that the benefit of this intervention is “greater the sooner it is started”, highlighting, however, that it is not indicated for all patients, nor in very early stages without defined criteria.
According to national and international recommendations, all patients with COPD, with early-onset emphysema or in the absence of known risk factors, patients with difficult-to-control asthma and family members of people diagnosed with this deficit should be tested for this condition.
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