trombofiilit

Trombofilia, also known as thrombophilia, refers to a tendency toward the formation of blood clots within the blood vessels. These clots, or thrombi, can obstruct blood flow and potentially lead to serious complications such as deep vein thrombosis (DVT), pulmonary embolism, or arterial thrombosis. Trombofilia can be inherited or acquired, and it often arises due to abnormalities in the blood, blood vessels, or surrounding tissues that promote clotting.

Inherited trombofilia is typically caused by genetic mutations that affect proteins involved in blood coagulation. Common examples include deficiencies in antithrombin, protein C, or protein S, as well as mutations in the factor V gene (known as the Leiden mutation) or factor II (prothrombin gene mutation). These conditions increase the risk of clotting, particularly in individuals with additional risk factors such as smoking, hormonal therapies (e.g., oral contraceptives or hormone replacement therapy), pregnancy, or prolonged immobility.

Acquired trombofilia may develop due to external factors, including cancer, autoimmune diseases, infections, or certain medications. Conditions like antiphospholipid syndrome (APS), where the immune system mistakenly attacks phospholipids in the blood, are associated with an increased risk of clotting. Other contributing factors include obesity, advanced age, and prolonged bed rest.

Diagnosis of trombofilia often involves blood tests to assess clotting factors, genetic testing for inherited mutations, and clinical evaluation of symptoms such as swelling, pain, or shortness of breath. Treatment typically focuses on preventing clot formation through anticoagulant medications, such as warfarin or direct oral anticoagulants (DOACs), and addressing underlying risk factors. Lifestyle modifications, including regular exercise and maintaining a healthy weight, may also reduce the risk of complications.

Early recognition and management of trombofilia are crucial to minimizing the risk of severe thrombotic events and improving long-term outcomes. Individuals with a family history of clotting disorders or unexplained clots should consult a healthcare provider for further evaluation.