Thrombophilia Overview

Thrombophilia is a term used to describe a condition where blood that has an excessive tendency to clot.

There are two types of thrombophilia.

  • Acquired thrombophilia: The blood clotting is related to a specific cause, such as prolonged bedrest, cancer or trauma
  • Inherited: Genetic mutation that increases the tendency of blood clotting

Understanding Blood Clots

To better understand thrombophilia, it’s important to understand why and how the blood clots.

Blood clotting is the body’s natural defense against bleeding. A clot or thrombus, forms whenever there is damage to a blood vessel either an artery or vein. The clot or thrombus forms through a series of chemical reactions between blood cells (platelets) and proteins in the blood (clotting factors). The platelets and clotting factors work together to start and stop clotting according to the body’s needs. When the process works correctly, the correct amount of clotting proteins is present. If the process does not work correctly, the incorrect amount of proteins makes a clot that can form in the blood vessels that blocks blood flow to the surrounding tissues. When this occurs the clot is called a thrombosis.

Children who have inherited thrombophilia may not have all the clotting factors needed, too many of the clotting factors or proteins needed, or their clotting factors are abnormal from a gene mutation. These children tend to develop a thrombosis more easily or frequently than people who do not have inherited thrombophilia.

Types of Inherited Thrombophilia

There are several types of inherited thrombophilia. Some common types are:

  • Factor V Leiden
  • Prothrombin gene mutation
  • Protein C deficiency
  • Protein S deficiency
  • Antithrombin deficiency

Treatment of Thrombophilia

Treatment for thrombophilia depends on the type and severity of the condition. Treatments may include blood thinners, preventative therapy, and blood thinning medications.

For more information or to schedule an appointment with a pediatric hematologist, call 314.454.5437 or 800.678.5437 or email us.