Polygenic score
Influential genes: CSMD1
The CSMD1 gene is linked to higher susceptibility to COPD, but its specific role in the disease is still under investigation.
Chronic obstructive pulmonary disease (COPD) is a group of disorders consisting of chronic bronchitis and emphysema. It has a high prevalence and is the 3rd leading cause of death worldwide. Most cases of COPD develop because of smoking. Other factors that may contribute are environmental air pollution, occupational exposure to various irritants, and genetics. The symptoms vary in intensity depending on the severity of the disease. The early stages may be asymptomatic, otherwise, you can experience cough with sputum production, shortness of breath, fatigue, etc. The diagnosis is based on the patient's medical history, physical examination, blood tests, and pulmonary function tests. The goals of treatment are mainly relieving symptoms, slowing progression, and preventing exacerbations. The most important factor in treating and preventing COPD is smoking cessation. Various complications, like heart problems, respiratory infections, lung cancer, and others can arise due to COPD development. It can also lower the life expectancy in more severe cases.
The prevalence of COPD is estimated to be 7,6%[1] and it is the 3rd leading cause of death worldwide, according to WHO. The development of COPD is influenced by an interaction between environmental and genetic factors. The most significant risk factor is smoking (active or passive), it damages the air sacs, airways, and the lining of your lungs. Around 90% of COPD cases are attributable to smoking but only 25% of smokers develop COPD. Smoking can not only be the cause of COPD but also lead to acute flare-ups of the disease. Other risk factors include air pollution, occupational exposure to dust, fumes or chemicals, asthma in childhood, premature birth, etc.
COPD development is influenced mostly by environmental factors, but multiple genes can increase the likelihood of the disease. Alpha 1 antitrypsin deficiency (AATD) is a rare hereditary condition (with autosomal codominant inheritance) that is responsible for 1% of COPD cases. There is a lack of protein - alpha 1 antitrypsin - that protects the lung from the damaging effects of inflammation. It leads to a higher chance of COPD development and liver problems (this protein is secreted in the liver).
COPD is a group of diseases that includes chronic bronchitis (inflammation of the lining of bronchial tubes) and emphysema (breakdown of the walls of the tiny air sacs (alveoli) at the end of the bronchial tubes). Symptoms usually don’t occur until there is significant lung damage and they get worse over time as the disease progresses. The symptoms include cough with sputum production, shortness of breath, wheezing, chest tightness, a lack of energy, frequent respiratory infections, and weight loss in later stages. People with COPD can experience exacerbations - a worsening of symptoms that lasts usually for several days. Around 70% are triggered by respiratory infections, otherwise, it can be triggered by environmental pollution or some other less common causes.
The diagnosis is based on medical history, physical examination, blood tests, and different breathing tests. Spirometry is the most common lung function test that shows how well the lungs work. Chest X-rays or CT scans can detect lung changes like emphysema. An arterial blood gas analysis is performed to determine how well lungs are bringing oxygen and removing carbon dioxide.
COPD is a progressive but treatable disease. The therapy is focused on relieving symptoms, preventing respiratory infections, and reducing the risk of complications. The most essential step that improves the symptoms is quitting smoking. Bronchodilators can help with breathing difficulties and steroids can reduce the inflammation in the lungs. Antibiotics are commonly prescribed to treat or prevent respiratory infections. For some people with severe emphysema, surgery may also be a treatment option.
Smoking cessation has the most important impact on the prevention of COPD. It is also recommended to reduce environmental exposure to various harmful fumes, gasses, vapors, particulate matter, etc.
It is also important to get vaccinated against the flu (influenza) and pneumococcal pneumonia to prevent respiratory infections.
COPD may lead to different serious complications: heart problems, lung cancer, pulmonary hypertension
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