What is thrombophilia?

Thrombophilia is a blood clotting condition in which your blood coagulates too easily. This can increase your risk of forming blood clots in arteries, veins, (or both). A blood clot is dangerous if left untreated and can lead to thrombosis, such as deep vein thrombosis (DVT) and pulmonary embolism (PE).

What are the different types?

There are different types of thrombophilia:

• Inherited (genetic)
• Acquired (developed later in life)
• It is possible to have both inherited and acquired thrombophilia

Inherited thrombophilia is passed from one or both parents. Common forms of inherited thrombophilia include Factor V Leiden, which affects 1 in 20 people of European ancestry, and Prothrombin G20210A.

Acquired thrombophilia is more frequent. It occurs when the liver is damaged or altered, causing it to remove clotting proteins too quickly from the bloodstream - or stop producing them altogether. This can happen after surgery, injury, or an illness like cancer.

The most common acquired form is an autoimmune disorder called antiphospholipid syndrome. This condition poses a serious risk to pregnant women, increasing the chances of suffering pregnancy complications. It can also lead to miscarriage.

What are the symptoms?

There are no symptoms unless the thrombophilia results in a blood clot.

How is thrombophilia diagnosed?

Thrombophilia is diagnosed with blood tests. The tests will measure the levels of clotting proteins in your blood and check for possible gene mutations. The results will determine the type and duration of treatment, the risk of future blood clots, and if your family members could also have thrombophilia.

However, only certain people need to be tested.

Testing for thrombophilia will be considered if you:

• Experience an unprovoked DVT or PE before the age of 40
• Have recurrent blood clots
• Have a strong family history of DVTs or PEs
• Develop a blood clot in an unusual site, like the abdomen or brain
• Have recurrent miscarriages
• Have difficulty conceiving a baby

How is thrombophilia treated?

You don’t need treatment unless you have a blood clot or are at a high risk of developing one. The level of risk will depend on several factors, such as age, thrombophilia type, family history, and overall medical condition.

Blood clots are generally treated with anticoagulants (also known as blood thinners), like warfarin and heparin, to prevent clot growth and allow the body to break it down on its own. You will need frequent blood testing to ensure you’re taking the correct amount.

Treatment will be different for pregnant women. This is because pregnancy can increase the likelihood of thrombosis, even if you don’t have thrombophilia.

Which type of specialist treats thrombophilia?

A haematologist will help you interpret your test results and determine a personalised treatment plan. If you consider genetic testing for thrombophilia, a genetic counsellor will support you and your family.