NHS Behind the Headlines | Published online: 27 October 2016
A new study looked at the feasibility of screening for familial hypercholesterolaemia (FH), an inherited condition that affects around 1 to 2 in every 250 people in the UK. It can cause abnormally high cholesterol levels. It doesn’t usually cause any noticeable symptoms, but people with FH aged between 20 and 40 are 100 times more likely to have a heart attack than other people their age.
UK researchers tested 10,095 one-year-olds to explore the feasibility of screening for FH. They tested the toddlers at the same time they had routine vaccinations at the age of one. Researchers found 28 children with FH. The parents of children with FH were then also tested. The study found not all children with an FH mutation had high cholesterol, however, and some with high cholesterol did not have a known FH mutation. This means FH mutation testing alone would not be a useful screening test, so the researchers suggest testing cholesterol levels first. The approach used in the study does have the added benefit of identifying parents with FH who didn’t realise the condition ran in their family.
Once FH is diagnosed, it is relatively straightforward to treat through making lifestyle changes and taking drugs known to reduce cholesterol, mainly statins. This research will help inform the UK’s National Screening Committee when considering whether the benefits of screening for FH outweigh the harms.
Read the full analysis here
Read the original research article here