Thrombofilias

Thrombophilia refers to a condition where a person has an increased tendency to form blood clots. This predisposition can arise from genetic factors, acquired conditions, or a combination of both. Blood clots, also known as thrombi, can form in veins or arteries, potentially leading to serious health problems such as deep vein thrombosis (DVT), pulmonary embolism (PE), stroke, or heart attack.

Genetic thrombophilias are inherited disorders that affect the proteins involved in blood clotting. Common inherited forms include Factor V Leiden mutation, prothrombin gene mutation, and deficiencies in antithrombin, protein C, or protein S. These genetic variations can disrupt the natural balance between clotting factors and anticoagulant proteins, making clot formation more likely.

Acquired thrombophilias develop over a person's lifetime and are often associated with other medical conditions or lifestyle factors. Examples include antiphospholipid syndrome, certain cancers, pregnancy, prolonged immobility, major surgery, and the use of hormone replacement therapy or oral contraceptives. These acquired factors can also alter the body's clotting mechanisms.

Diagnosing thrombophilia typically involves a review of personal and family medical history, physical examination, and laboratory tests. Blood tests can identify specific genetic mutations or the presence of antiphospholipid antibodies. Treatment strategies vary depending on the type and severity of thrombophilia, as well as the presence of any existing blood clots. Anticoagulant medications, such as warfarin or direct oral anticoagulants, are often prescribed to prevent clot formation and reduce the risk of future thrombotic events. Lifestyle modifications may also be recommended to further mitigate risk.