WHAT IS THROMBOPHILIA? Thrombophilia describes an increased tendency to form blood clots. Normally, blood clots help protect us. We need our blood to be able to clot (form a thick mass) to protect us from losing too much blood when we are injured. But when blood clots form where they shouldn’t in the body, they can block blood from traveling where it is needed.
Thrombophilia can be inherited from a family member or caused by another condition. Thrombophilia caused by an inherited condition is not likely to be cured. It is possible that thrombophilia caused by another condition, like those mentioned in the next section, could go away after the condition has been fixed or adjusted. You may hear these terms during your child’s treatment: • Artery—a blood vessel that carries blood from the heart to all parts of the body • Vein—a blood vessel that returns blood to the heart
• Arterial thromboembolism (ATE)—a clot in an artery anywhere in the body • Venous thromboembolism (VTE)—a clot in a vein anywhere in the body. • Deep vein thrombosis (DVT)—a blood clot in the deep veins • Pulmonary embolism (PE)—a blood clot in the lungs
• Stroke—damage to the brain due to decreased blood supply possibly related to thromboembolism • Thromboembolism—The blockage of a blood vessel (artery or vein) by a blood clot that formed elsewhere but traveled to the spot it is blocking
WHO GETS THROMBOPHILIA AND WHAT CAUSES IT? Even before birth, children can develop clots. However, the risk of developing a clot is much lower in children than in adults. Thrombophilia can be caused by inherited factors or by another condition or medication. INHERITED THROMBOPHILIA • The inherited form of thrombophilia is referred to as genetic thrombophilia . Having a family member with thrombophilia increases the risk of carrying this same gene and developing blood clots. Eighty percent of children who develop a blood clot without any other risk factors likely have a genetic condition that increases their risk of having a blood clot, though that genetic condition may not be diagnosed until later in life. Inherited forms of thrombophilia include: • Factor V Leiden—a mutation (a change or alteration) of the factor V gene. Factor V helps limit the clotting process. When the gene has mutated, clots can grow larger than needed. This is the most common genetic cause of blood clots. People with the factor V Leiden mutation are eight times more likely to develop a blood clot than the general population. • Prothrombin gene mutation—a mutation of the factor II gene. This mutation produces too much prothrombin (also called clotting factor II), causing too many clots to form. This is called prothrombin thrombophilia. People with the prothrombin gene mutation are three to five times more likely to develop a blood clot than the general population
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