thrombofília

Thrombophilia refers to a condition characterized by an increased tendency to form blood clots. This can manifest as deep vein thrombosis (DVT), pulmonary embolism (PE), or arterial thrombosis. Thrombophilia can be inherited, known as inherited thrombophilia, or acquired, developing later in life.

Inherited thrombophilias are genetic disorders that predispose individuals to clotting. Common inherited forms include Factor V Leiden mutation, prothrombin gene mutation, and deficiencies in antithrombin, protein C, or protein S. These genetic alterations disrupt the natural balance of blood clotting and anticlotting factors.

Acquired thrombophilia can arise from various medical conditions or lifestyle factors. These include certain cancers, autoimmune diseases like antiphospholipid syndrome, prolonged immobility, major surgery, pregnancy, and the use of hormone replacement therapy or oral contraceptives. Obesity and smoking are also contributing risk factors.

Symptoms of thrombophilia depend on the location of the clot. DVT typically presents with swelling, pain, redness, and warmth in a limb, most commonly the leg. PE can cause sudden shortness of breath, chest pain, coughing up blood, and rapid heart rate. Arterial clots can lead to stroke or heart attack symptoms.

Diagnosis involves a review of personal and family medical history, physical examination, and laboratory tests to identify specific clotting factors or genetic mutations. Treatment aims to prevent clot formation and recurrence, often involving anticoagulant medications such as warfarin, heparin, or newer direct oral anticoagulants. Lifestyle modifications and managing underlying conditions are also crucial.