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Thrombophilia is a term used to describe a group of conditions in which there is an increased tendency for excessive clotting. People with a clotting disorder often have repeated clotting events over an extended period of time. These clotting conditions may be due to a family history of clotting or a diagnosis based on a demonstrated genetic mutation.

Thrombophilia can also be an acquired condition which can occur alone as a manifestation of an autoimmune disorder. Although we are now able to determine the underlying cause in some patients and families for this tendency for excessive blood clotting, we are not yet able to identify the cause in all cases.

Signs and symptoms

  • Deep vein thrombosis (DVT) and pulmonary embolism
  • Pain, swelling, and redness of the legs
  • Long-term swelling and heaviness due to valve damage in veins
  • Shortness of breath, chest pain, and palpitations due to clot in lung arteries
  • Collapse, shock, and cardiac arrest

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