Pulmonary embolism and genetics

Pulmonary embolism is a serious medical condition that occurs when one or more arteries in the lungs become blocked by a blood clot. These clots usually originate in other parts of the body and travel through the bloodstream to the lungs.

Pulmonary embolism can reduce or completely block blood flow to the lungs, which can cause damage to lung tissue and affect the body’s ability to exchange oxygen and carbon dioxide.

Fortunately, it is not a very common pathology; approximately only 1 in every 1,000 people develop pulmonary embolism during their lifetime, reducing the presence of the most severe form of pulmonary embolism, which has an incidence in Spain of 28,000 cases per year. This severe form of pulmonary embolism has a mortality rate of up to 16.7% of cases, and it is estimated that more than 90% of deaths occur in undiagnosed people.

This highlights the importance of early diagnosis of this disease and of monitoring patients at risk of pulmonary embolism.

Which risk factors are associated with pulmonary embolism?

The main risk factors for developing pulmonary embolism include:

• Prolonged immobility, such as long trips or bed rest.
• Recent surgeries, especially those involving the legs, hips or abdomen.
• Certain medical conditions such as previous thrombosis, cancer, heart failure or inflammatory diseases.
• Use of estrogens, as in hormone therapy or oral contraceptives.
• Smoking.
• Obesity.
• Genetics.

How much does genetics influence pulmonary embolism?

The relative risk may also be affected by genetic markers:

• A low genetic risk decreases the risk of developing pulmonary embolism by 15%.
• A high genetic risk increases the risk of developing pulmonary embolism by 23%.

The above factors, especially previous thrombosis and family history can significantly increase the prevalence of the pathology (approximately 1 in 1,000 persons), highlighting the importance of considering family history, medical history and genetic findings.