Schopwick Surgery

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Familial Hypercholesterolemia

As part of our commitment to preventative healthcare and reducing cardiovascular disease complications in our community, we are now able to offer children a heel prick test, at one year old, for inherited high cholesterol.

The test involves taking a small blood sample from your child’s heel to identify if they have a rare but serious genetic condition called Familial Hypercholesterolemia (FH). This condition causes concentrations of harmful LDL-cholesterol in the blood which can lead to the early development of cardiovascular disease. Most people won’t have this condition but for the few that do, approximately 1 in 2501, the benefits of screening mean they are able to make changes to their lifestyle and access treatment as early as possible to prevent complications.

Parent video –

You are being offered this test on your child now as this is a widely underdiagnosed condition and recent research shows that one year old is the best time to test. If the test is done later in life, it is not as accurate. 

The heel prick test method is the same that was used to test your baby at five days old for other genetic conditions and can be done in the surgery at the same time as their routine immunisations which are due in the next few weeks.

Your child’s total cholesterol will be checked and identified during the immunisation appointment.  If the total cholesterol is high, then the blood sample will be sent off for further testing and we will contact you with the result within a few weeks.  If it is negative this means your child is not at risk of Familial Hypercholesterolaemia and no further action is required. However, if the result comes back as positive, we will arrange a follow up appointment to discuss this with you. 

What is Familial Hypercholesterolaemia (FH) – Please click here (video) for more information –