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Hereditary Thrombophilia
Background
Hereditary thrombophilia is the increased tendency to develop blood clots in blood vessels. Blood is designed to flow freely round the body and not obstruct blood vessels. At the time of a cut, however, blood thickens due to local activation of the chemicals responsible for clotting and becomes sticky around the injured area forming a semi-solid mass thrombus (blood clot). This prevents bleeding and limits blood loss while the repair of the blood vessels takes place. In thrombophilia, clotting most often occurs within an unbroken vessel at an inappropriate time and place.
Blood clots may form within all blood vessels, but typically occur in the large or important vessels in the brain, heart, lungs, legs and arms. Clots in the leg or the arm can usually be detected by ultra-sound examination. In addition, clots can be detected by X-ray examination by injecting a substance into the blood to make the clot stand out. A blood clot in the lung is more difficult to diagnose. A radioactive substance may be used to test for a mismatch between the distribution pattern of blood flowing in the vessels and of the air filled spaces in the lungs. Such a mismatch would indicate the presence of a clot.