Listen to how Sandhia adjusted her families lifestyle to accommodate reducing cholesterol.
Children and Familial Hypercholesterolaemia (FH)
Familial Hypercholesterolemia (FH) is a genetically inherited disorder which increases cholesterol levels from birth. Children born to adults with the hereditary high cholesterol condition FH have a 50:50 (1 in 2) chance of inheriting Familial Hypercholesterolemia too. Most children with Familial Hypercholesterolemia have one copy of a faulty gene (heterozygous FH), but very occasionally a child will have inherited two faulty genes, one from each parent (compound heterozygous or homozygous Familial Hypercholesterolemia).
Because children with FH have high cholesterol levels, it is easy for your doctor to do a simple blood test to check if they might also have Familial Hypercholesterolemia. This screening process should be done before the age of 10. Cholesterol levels are less predictable after this age as children enter puberty.
If your child’s cholesterol level is within a normal range then it is unlikely that they have FH. If your child has moderately raised total cholesterol (between 5.5 and 6.7mmol/l) this makes it more difficult to rule out or diagnose FH. Under these circumstances your doctor may advise they have regular tests as they grow up.
New Resources for Children and Young People (2017)
HEART UK has an exciting and ambitious new programme to give more support to families, in particular children and young people living with or affected by FH. The programme includes three unique booklets for children in primary and junior school, as well as teenagers to help explain more about high cholesterol, healthy eating exercise and medicines.
Click the front cover of each booklet below to download the PDF version.
If you are a parent with Familial Hypercholesterolemia that has had a positive genetic diagnosis, it is easy to test for the same altered gene in your child. If they test positive for the altered gene, then they will have Familial Hypercholesterolemia. If they have a negative result, then they will not have FH (unless they have inherited it from the other parent, which is possible but unlikely).
Children with Familial Hypercholesterolemia should be seen in a family friendly environment within a lipid clinic. All children are individuals and the doctor will assess your child and discuss with you the best treatment for him or her. This will depend on many things such as your family history of early heart disease, their age, gender, cholesterol level and any other relevant risk factors.
It is very important that all the children in the family (including brothers and sisters that are not affected) are encouraged to eat a healthy diet, to be physically active and not to start smoking. It will help if they can learn by seeing positive family role models around them.
Statins are increasingly being used to treat children with Familial Hypercholesterolemia and may be started as early as age 10.
What if my child has inherited two genes for FH?
This can only happen if two people with Familial Hypercholesterolemia have children together. One in every four of their children will inherit the altered gene from both mum and dad. Half of the children will receive just one altered gene and one child in four will be unaffected.
It is very rare to be born with two altered genes for FH. Doctors believe this happens in about 1 in every million births in the UK. Cholesterol levels are usually much higher in this type of FH and heart disease can develop at a much younger age.
If your child has been diagnosed with this form of FH, they are more likely to start statins early and in due course may go on to have a treatment called apheresis.
The FH Paediatric Register
A register for children with FH is being developed with the Royal College of Physicians and the Royal College of Paediatrics and Child Health, led by Prof Steve Humphries and Dr Uma Ramaswam.
The aims of the register are to:
- Monitor the safety and efficacy current and new treatments for FH on children, in particular growth, puberty and liver function.
- Provide comparative audit data for this relatively rare condition where individual clinicians see few patients.
- Provide valid data for future research in this field. including, , for example, whether there a difference in the degree of adult atherosclerosis (eg. at the age of 18) between children that started statins early and those who did not, and whether there a higher subsequent incidence of cancers if statins are started before the age of 10.
The NICE guideline advises that children with FH should be identified before the age of 10, so that treatment can be considered as early as possible.The project takes the opportunity of this increase in the number of children with FH being identified to establish an electronic register of these children, as recommended by NICE.
The project will also provide a model for a national web-based electronic register of FH, which will become necessary to link regional centres to allow cascade testing across their boundaries. In addition, it allows the identification of clinics caring for children. Given the absolute numbers in any one centre are likely to be small, clinical research will require a collaborative network of sites, and the register would provide a means of identifying sites that might be prepared to participate in such a network. A clinical lead has been employed on the project and it is anticipated that there will be the opportunity to contribute to research and publications.