Thrombophilia

Thrombophilia is a group of conditions that increase the risk of blood clots. Some types are inherited, while others are linked to factors such as pregnancy, obesity, surgery or hormone treatments containing oestrogen. These blood clots most commonly occur in veins, but in some cases, thrombophilia may also increase the risk of stroke or pregnancy complications.

Thrombophilia can be identified using tests that look at how the blood clots, or by doing genetic tests. Management may involve blood-thinning medicines, close monitoring, preventive treatment during high-risk periods, and advice on reducing lifestyle risk factors for blood clots.

The UK National Screening Committee (UK NSC) does not currently recommend screening newborn babies, adults, or low-risk pregnant women for thrombophilia. Previous reviews were carried out in 2010, 2016 and 2021. These found no evidence that population screening improves health outcomes, no clear evidence about how well screening tests perform, and no evidence that treatment benefits people identified through screening.

The UK NSC has commissioned a new evidence map to identify research published since 2020. The review will examine the amount and type of evidence on the benefits and harms of universal thrombophilia screening in:

1. Low-risk pregnant women

2. Newborn babies

3. The general adult population

The findings will show whether enough new evidence has been published since 2021 to justify a more detailed review and will help inform future UK NSC recommendations on thrombophilia screening.