Thrombophilia is a term that is used to describe conditions where there is an increased occurrence of abnormal or excessive blood clots. Development of blood clots called thrombi occur within the veins or arteries. Thrombophilia can be inherited, acquired, or have components of both. Individuals with inherited thrombophilia may have a family history of clotting that can be caused by such genetic conditions as Factor V Leiden, protein C and S deficiencies, or prothrombin gene mutations—which can be passed to a child from a parent. Acquired causes of thrombophilia include obesity, trauma, smoking, hormone therapy, an autoimmune disorder, or extended bed rest after surgery.
Deep vein thrombosis (DVT) and pulmonary embolism (PE) are common problems associated with thrombophilia. The location and degree of the clot determines the associated symptoms. For example, a clot (DVT) in the leg may cause pain, redness, increased warmth, and swelling, whereas a clot in the lungs (PE) may include sudden shortness of breath, chest pain, dizziness, or rapid pulse.
Measures to help prevent clots include avoiding sitting still for long periods and healthy lifestyle changes, such as weight loss, smoking cessation, or increased activity. Treatment options for a clot include medications (blood thinners or clot busters), filters, or compression stockings. Duration of treatment depends on the cause of the clot.