Jules Payne
Chief Executive, Heart UK
Familial hypercholesterolaemia (FH) is an inherited condition which can cause extremely high cholesterol levels. It is passed down through families in the genes.
Without treatment, FH can lead to heart disease at a very young age. But once it’s been diagnosed, it can be treated with medicines and a healthy diet and lifestyle. Given this is a genetic condition, the earlier you are diagnosed the better.
Lack of disease awareness
The condition affects around one in 250 people, that means that around 250,000 people will have FH across the UK. Many of those are not aware they have the condition, sadly we know less than 10%.
HEART UK have led the charge for the UK National Screening Committee to accept child parent screening for FH as a national screening programme across the UK. However, to date they have declined to do so.
If the child has high cholesterol a genetic test is then done and if that proves positive, the child has FH.
Pilot programme for FH screening
In England, there is a pilot programme for child parent screening for FH in seven areas. This programme is extremely important in setting the way for national adoption.
This is done through a GP practice who is involved in the pilot. The child is tested when they are at their immunisation appointment between the age of one and two, with the consent of the parents of course.
If the child has high cholesterol a genetic test is then done and if that proves positive, the child has FH. A process called cascade testing then takes place. Cascade testing is when specific family members are also tested.
How to manage the condition is discussed between the healthcare professional and the affected family members. Diet and lifestyle are very important but medication will be needed at some stage.
HEART UK has an information rich website (heartuk.org.uk) with lots of information about FH, including videos, children and young people materials and much more.
