Pulmonary embolism

Pulmonary embolism is one of the five most common vascular diseases in most countries and is characterized by a blockage of the trunk or branches of the pulmonary artery, causing obstruction of pulmonary circulation. It is a pathology that is difficult to detect due to the wide range of symptoms it presents and can cause permanent damage to the lungs and other organs because they do not receive enough oxygen.

Some of the non-genetic risk factors associated with pulmonary embolism are:

  • Age (>65 years)
  • Obesity
  • Antiphospholipid syndrome diseases, cancer, chronic inflammatory pathologies and thrombophilia.
  • Prolonged immobilization, severe injuries and fractures such as a hip fracture, major surgery
  • Use of oral contraceptives, pregnancy and puerperium, cesarean section, estrogen therapy.
  • Low physical activity and sedentary lifestyle, poor quality diet, smoking

Symptoms

  • Sudden shortness of breath
  • Chest pain that increases on inhalation
  • Coughing up blood
  • Lightheadedness, dizziness, or fainting due to a sudden loss of blood pressure.
  • Pain and swelling in the legs
  • Excessive sweating
  • Bluish fingernails and lips

Prevention

For the prevention of pulmonary embolism there are certain recommendations that can help reduce the risk, such as regular physical activity, moving regularly without sitting for long periods of time in the same position, maintaining a healthy weight, adequate hydration, following a balanced diet and not smoking. If you have suffered a thrombotic event or if you have a family history of deep vein thrombosis you should inform your doctor.

Number of observed variants

13.5 million variants

Number of loci analyzed

10 loci

Genes analyzed

ABO F11 F2 FGA ILF3 IYD MYOM1 TSPAN15

Bibliography

Dönertaş HM, Fabian DK, Valenzuela MF, et al. Common genetic associations between age-related diseases. Nat Aging. 2021 Apr;1(4):400-412. doi: 10.1038/s43587-021-00051-5.

Khan F, Tritschler T, Kahn SR, Rodger MA. Venous thromboembolism. Lancet. 2021 Jul 3;398(10294):64-77.

Lutsey PL, Zakai NA. Epidemiology and prevention of venous thromboembolism. Nat Rev Cardiol. 2023 Apr;20(4):248-262.

Zhang Z, Li H, Weng H, et al. Genome-wide association analyses identified novel susceptibility loci for pulmonary embolism among Han Chinese population. BMC Med. 2023 Apr 19;21(1):153.

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