Chronic Obstructive Pulmonary Disease

It is one of the most common respiratory diseases, due to chronic lung inflammation that obstructs airflow. It is also associated with an increased risk of developing other diseases (respiratory infections, lung cancer, etc.). It has a worldwide prevalence of 13% and although it is progressive, proper control maintains quality of life and reduces the risks of other pathologies.

Emphysema and chronic bronchitis are the two most common conditions that contribute to chronic obstructive pulmonary disease. Emphysema is the destruction of the bronchioles, the respiratory structure that allows the exchange of oxygen and carbon dioxide, as a result of harmful exposure to tobacco smoke and other irritating gases and particles. Chronic bronchitis results from inflammation of the lining of the bronchi.

The main cause of COPD in developed countries is smoking, although other irritants can cause chronic obstructive pulmonary disease, including cigarette smoke itself, environmental pollution and workplace exposure to dust, smoke or toxic gases. In developing countries, it is mostly associated with exposure to fumes from burning fuels for cooking and heating in poorly ventilated homes.

Symptoms

COPD frequently appears around the age of 40-50 years, but has a slow progression and progressive worsening. Symptoms usually do not appear until significant lung damage occurs and often worsen over time, especially if exposure to tobacco continues. Over time it can limit a person's ability to perform daily activities and, in severe cases, can prevent them from performing even the most basic activities. Common symptoms include:

Shortness of breath, especially during physical activity.
Wheezing (whistling) in the chest.
A feeling of tightness in the chest.
Chronic cough that may produce mucus.
Frequent respiratory infections.
Lack of energy.
Unintentional weight loss.

Prevention

The best method of prevention is to reduce risk factors. These are the same ones that can trigger, worsen the disease when it is already established or exacerbate its symptoms.

Quitting smoking is the most important measure that can be taken. It is also important to avoid second-hand smoke.
Exercise regularly as much as possible.
Maintain a balanced diet and an appropriate weight. Avoid large meals, especially dinner, alcoholic beverages, and limit carbonated beverages.
Avoid very cold environments.
Reduce air pollution in the home by eliminating chimney smoke and other irritants.
Get vaccinated against influenza and pneumococcus to reduce the risk or prevent these common respiratory infections.

Number of observed variants

13.5 million variants

Number of risk loci

80 loci

Genes analyzed

ADAM19 ADAMTSL3 ADGRG6 AGER ARMC2 ARNTL ASAP2 BCAR1 BTC C1orf87 CCDC69 CCDC91 CDC123 CHRM3 CHRNA5 CITED2 COL15A1 DENND2D DMWD EEFSEC EFCAB5 EML4 EMP2 EPOP FAM13A FAM227B FGF18 GLIS3 GNA12 HHIP HSPA4 HTR4 ID4 IER3 ITGA1 ITGB8 KCNE2 LRMDA LRTM1 ME3 MECOM MED13L MED24 MFAP2 MFHAS1 MICAL3 MTCL1 MYCN NPNT NR4A2 PABPC4 PRL RASSF10 RBMS3 RFX6 RIN3 RREB1 SERP2 SFTPD SLC30A10 SLMAP SMIM2 SNRPF SOX9 SPATA31D1 SPATA9 SPHKAP SPPL2C STN1 SYN3 TESK2 TGFB2 THSD4 TNPO1 TNS1 TOP2B TRIM32 TWIST2 USB1 VGLL4 ZBTB38 ZSCAN21

Bibliography

Blanco I et al. ES Geographic distribution of COPD prevalence in the world displayed by Geographic Information System maps. Eur Respir J. 2019 Jul 18;54(1):1900610.

Medline Plus [March 2022]

Mayo Clinic [March 2022]

Sakornsakolpat P et al. Genetic landscape of chronic obstructive pulmonary disease identify heterogeneous cell-type and phenotype associations. Nature Genetics. 2019 Mar;51(3):494-505.