Funding outcome

Familial Hypercholesterolemia (FH) is a common inherited condition that affects about 1 in 250 Canadians. Children with FH are born with very high levels of 'bad' cholesterol. If they are not diagnosed and treated early, they have an 18 times greater risk of heart attacks and strokes, which can occur as early as their 30s. While safe and effective treatments exist, they work best when started in childhood. Unfortunately, more than 90% of people with FH do not know they have it. In Alberta, only about 4% of children are tested. Many doctors avoid testing because the usual blood test requires a needle in a vein, which can be stressful for young children and their families. This project studies an easier way to test for FH using a dried blood spot. This test uses a quick finger or heel prick and just a few drops of blood placed on a card. It is similar to the heel-prick test babies receive at birth. If this method works well, FH screening could be added to routine one-year vaccination visits, making testing easier for families and improving access for children in rural and remote communities. Working with experts in genetics and laboratory medicine, this study will compare dried blood spot testing with standard blood tests to ensure the method is accurate and reliable. The project will also include input from genetic counsellors to help develop clear, supportive ways to share results with parents. Finding FH early allows children to be diagnosed and treated before serious heart damage occurs. When a child is diagnosed, parents and siblings can also be tested, which often identifies adults who did not know they were at risk. This project aims to prevent heart disease before it starts and improve long-term health for children and families across Alberta and beyond.