thrombofíliák

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 hereditary thrombophilia, or acquired, developing later in life.

Hereditary thrombophilia is often caused by genetic mutations that affect the proteins involved in blood clotting. Common inherited forms include Factor V Leiden mutation, prothrombin gene mutation, and deficiencies in natural anticoagulant proteins like antithrombin, protein C, and protein S.

Acquired thrombophilia can arise from various medical conditions or lifestyle factors. These include certain cancers, inflammatory diseases, pregnancy, prolonged immobility, surgery, and the use of hormone replacement therapy or oral contraceptives. Antiphospholipid syndrome is a significant cause of acquired thrombophilia, where antibodies are produced against phospholipids, leading to increased clotting risk.

Symptoms of thrombophilia can vary depending on the location of the clot. DVT typically presents with swelling, pain, redness, and warmth in a limb, while PE may cause shortness of breath, chest pain, and coughing up blood. Arterial clots can lead to stroke or heart attack.

Diagnosis involves a combination of medical history, physical examination, and laboratory tests to identify specific genetic mutations or acquired factors contributing to the clotting disorder. Treatment aims to prevent further clot formation and manage existing clots, often involving anticoagulant medications such as heparin or warfarin. Lifestyle modifications and addressing underlying medical conditions are also crucial components of management.