Thrombophilia is a term that describes a condition in which blood has an increased tendency to clot. There are different reasons why people can have this increased tendency for blood clotting.
Types of thrombophilia
(1) Presence of one or more inherited (genetic) risk factors – i.e. Thrombophilic gene mutations (Leiden mutation, mutations of MTHFR, prothrombin mutation, etc.). These are also called inherited or congenital thrombophilias. The term thrombophilia is most commonly used for this genetic based type of thrombophilia.
(2) Chronic condition that is causing increased thrombotic risk, for example:
- inflammatory bowel disease
- antiphospholipid antibodies
(3) Temporary condition that leads to an increased tendency for blood clotting, such as:
- recent surgery
- Long-term immobility
- use of oral contraceptives
- HRT – hormone replacement therapy
Thrombophilia and blood clotting process
Normally there is a balance in the body, which ensures that not too much bleeding or clotting is happening. If this balance is disturbed, it can cause blood clots.
Throughout the course of a normal day, many vessels suffer minor injuries, of which you are unaware. In response body naturally starts so-called “Coagulation cascade” (see picture). It’s a sequence of events that allows blood cells (platelets), coagulation factors and proteins react at the site of injury, clog impaired blood vessel to stop the bleeding, and then fix it.
Although the activation of the clotting process occurs normally, the problem may occur in people with the presence of thrombophilia. This is e.g. because he or she may have clotting proteins in abnormal quantities, so that blood clotting is excessively elevated and thus can create a large blood clot.
The most common inherited thrombophilia or thrombophilic gene mutations are Leiden mutation, MTHFR mutation and the prothrombin gene mutation.
A patient diagnosed with thrombophilia should be able to recognize possible complications and know when to seek medical attention immediately. A wide range of thrombophilia complications, especially thromboembolic character, but also a complication of thrombophilia in pregnancy, the risk of thrombosis when traveling, the issue of treatment and prevention of thromboembolism, all this suggests that a thrombophiliac should learn an effective precautionary measures and understand their diagnosis.
Complications of thrombophilia:
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