Trombofilia

Trombofilia refers to a condition characterized by an increased tendency to form blood clots. This predisposition, also known as hypercoagulability, can lead to potentially serious health issues, including deep vein thrombosis (DVT) and pulmonary embolism (PE). Trombofilia can be inherited, meaning it is caused by genetic mutations passed down through families, or it can be acquired, developing later in life due to factors such as certain medical conditions, medications, or lifestyle choices.

Inherited trombofilias are often caused by mutations in genes that regulate blood clotting. Common examples include Factor V Leiden mutation and the prothrombin gene mutation. Acquired trombofilias can arise from conditions like cancer, inflammatory bowel disease, or the use of hormone replacement therapy and oral contraceptives. Pregnancy also temporarily increases the risk of clot formation.

Symptoms of trombofilia are often related to the location of the clot. DVT typically affects the legs and can cause pain, swelling, redness, and warmth. A PE occurs when a clot travels to the lungs, leading to shortness of breath, chest pain, and coughing, sometimes with blood.

Diagnosis involves a combination of medical history, physical examination, and laboratory tests to identify specific clotting abnormalities. Treatment strategies depend on the underlying cause and severity, and may include anticoagulant medications to prevent clot formation and reduce the risk of recurrence. Lifestyle modifications, such as regular exercise and maintaining a healthy weight, can also be beneficial in managing the condition.