About thrombosis
Thrombophilia: congenital thrombophilia

Prothrombin 20210

Prothrombin is one of the blood clotting factors. It circulates in the blood and when activated, is converted to thrombin. Thrombin causes fibrinogen, another clotting factor, to convert to fibrin strands, which make up part of a clot.

The condition known as Prothrombin 20210 is due to a mutation of the prothrombin gene. Individuals with the condition tend to have slightly stickier blood, due to higher prothrombin levels.

Prothrombin 20210 is present in 2 in 100 people of European origin. This means that the risk of having a venous thrombosis is twice that of someone without the condition.

Prothrombin 20210 does not increase the risk of arterial thrombosis, so there is no increased risk of heart attacks or strokes.

Inheritance of Prothrombin 20210
Prothrombin 20210 is inherited in an autosomal dominant way. This means that if one parent has it, there is a 50:50 chance (1 in 2) that a child will inherit it.

There are a few individuals with a double dose, known as homozygous Prothrombin 20210, which means that they have inherited the condition from both parents. However this is extremely rare.

Some people with Factor V Leiden also have Prothrombin 20210.

Prothrombin 20210 and venous thrombosis
Most individuals with Prothrombin 20210 have a low risk of venous thrombosis unless one or more additional risk factors is present.

The risk of venous thrombosis in individuals with Prothrombin 20210 is about twice that of someone without the condition. However this risk is relatively low and most individuals with the condition are not affected.

However if an individual with Prothrombin 20210 also has Factor V Leiden or Protein S, the risk of thrombosis is substantially increased.

Preventing venous thrombosis
People who have Prothrombin 20210 can reduce the risk of venous thrombosis by making lifestyle changes, such as:

• Leading a physically active life
• Eating a healthy, balanced diet
• Avoiding becoming overweight or obese
• Avoiding long periods of immobility during illness
  or when travelling
• Stopping cigarette smoking

Individuals with Prothrombin 20210 should also seek medical advice before major surgery, or when they are likely to be immobile for a long period, as this increases the risk of venous thrombosis.

Women with Prothrombin 20210 should seek medical advice before taking oral contraception or hormone replacement therapy, and when pregnant or planning to become pregnant.

Prothrombin 20210 and pregnancy
It is important that women with Prothrombin 20210 who are pregnant discuss this with their obstetrician. As well as an increased risk of venous thrombosis, women with Prothrombin 20210 may have a slightly higher risk of placental problems during pregnancy.

Testing for Prothrombin 20210
As it is a common condition, Prothrombin 20210 is usually included as part of a standard thrombophilia screen.

It is detected through a genetic test. A blood sample is taken and the DNA is examined, to look for the mutation in the prothrombin gene.

Testing other family members
Testing is recommended for close blood relatives of people with a Prothrombin 20210, including brothers and sisters and sons and daughters, as there is a 50:50 chance that they will inherit the condition.

Because individuals with congenital thrombophilia do not tend to have problems until they are adults, children are not usually tested until they are old enough to understand why the blood sample is being taken. This is usually after the age of 13.

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