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.

Content supplied by the NHS Website

Medically Reviewed by a doctor on 21 Dez 2018