Protein C, Protein S or antithrombin deficiency
Types ofthrombophilia
There are many different types of thrombophilia. Some of the main types are outlined below.
Factor V Leiden
Factor V Leiden is a type of thrombophilia caused by a specific gene mutation.
It's the most common type of inherited thrombophilia, with 3-8% of Europeans having one copy of the factor V Leiden mutation in each cell, and about one in 5,000 people having two copies of the mutation. It's less common in other populations.
If you have Factor V Leiden, your risk of developing a DVT is increased (see above). There's also a higher risk of blood clots breaking away from their original location and travelling to other areas of your body through your bloodstream.
This can be particularly serious if the blood clot becomes stuck in the main artery of your lungs (the pulmonary artery). This is known as a pulmonary embolism and it can be life-threatening (see below).
Prothrombin 20210 mutation
Prothrombin 20210 mutation, also known as Factor II mutation, is another genetic blood disorder that increases the risk of clots.
Prothrombin is a protein in the blood which helps it to clot (thicken). However, in some people, a mutation in the gene that produces prothrombin causes too much to be produced, resulting in an increased tendency for blood clots, such as DVTs, to form.
As withFactor V Leiden, prothrombin 20210 is more common in white people, particularly Europeans.
Protein C, protein S or antithrombin deficiency
Protein C, protein S, and antithrombin are natural anticoagulants (substances that prevent the blood from clotting).
If you have low levels of these anticoagulants, or if they don't work properly, your risk of developing a DVT or pulmonary embolism is increased.
Problems with protein C, protein S or antithrombin can be inherited but are rare.
Antiphospholipid syndrome
Antiphospholipid syndrome, also known as Hughes syndrome, is an immune system disorder that increases the risk of blood clots.
Your body produces antibodies that attack phospholipids, a fat molecule thought to keep blood at the right consistency.
Theantibodies bind to the phospholipids, increasing your risk of a blood clot developing in a vein or artery.
Medically Reviewed by a doctor on 21 Dez 2018
Introduction
Thrombophilia is where the blood has an increased tendency to form clots.
The blood clotting process
When you cut yourself, the bleeding usually triggers a number of chemical reactions in the blood.The chemical reactions cause a blood clot to form, which sticks to the injured part of the blood vessel
Types ofthrombophilia
There are many different types of thrombophilia. Some of the main types are outlined below.Factor V LeidenFactor V Leiden is a type of thrombophilia caused by a specific gene mutation.It's the most co
Symptoms of thrombophilia
Thrombophilia is often mild and many people don't experience any health problems. Symptoms will only occur if the disorder causes a blood clot.People with thrombophilia are particularly at risk of dev
Diagnosing thrombophilia
Thrombophilia testing isn't routinely carried out on everyone who has a blood clot.Testing for inherited thrombophilia in people with venous thrombosis isn't usually needed because the results don't u
Treating thrombophilia
Treatment may not be needed if you have mild thrombophilia. If you develop a blood clot, you'll need treatment for the blood clot and treatment to prevent further clots. You may need to take warfarin
Lifestyle advice
If you have thrombophilia, it's important you're aware of the symptoms of a blood clot (see above), and that you see your GP immediately if you think you have one. You should also take the following p
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