Familial Hypercholesterolaemia (FH) is a genetic condition which occurs in about one person in every 250.  It causes high cholesterol levels in the blood and is inherited through families. It can cause the arteries to narrow and clog and can lead to early coronary heart disease. People with FH have high (twice normal) cholesterol levels from birth and they are at a high risk of early heart disease.

FH is caused by an alteration within a gene, which results in very high cholesterol levels from birth.  If a parent has FH, each of their children has a 1 in 2 (or 50:50) chance of inheriting it from them.  Without treatment people with FH may suffer heart attacks and strokes, often in their 40s or 50s, sometimes earlier and some are fatal.  If people are diagnosed early in life, they can be given lifestyle advice and medication to lower their cholesterol levels and dramatically reduce their risk of heart disease.

Genetic tests are now available that can help identify the alterations in the genes that cause FH. This means that if a person is found to have a FH gene we can also offer to test their relatives and identify and treat those affected before they develop heart disease. The FH service offers genetic testing from the age of 2 years old.

Northern England Evaluation and Lipid Intensification guideline

https://www.newcastlelaboratories.com/wp-content/uploads/2021/12/FH-NEELI-Final-10.2.pdf

Referrals

Adults and children in primary and secondary care who are suspected to have Familial Hypercholesterolemia can be referred into their local adult/paediatric lipid clinic to be assessed for genetic testing. See the Familial Hypercholesterolaemia: identification and management guidelines at https://www.nice.org.uk/Guidance/CG71.

Adults and children in primary and secondary care who have a relative with a molecular (genetic) diagnosis of Familial Hypercholesterolaemia can be referred into the Familial Hypercholesterolaemia service to have genetic testing. Patients may also self-refer. Our contact details are;

Key Contacts

Aimee Potter, Nurse Specialist – aimee.potter@nhs.net –  0191 241 8658

Susan Musson, Nurse Specialist – susan.musson@nhs.net –  0191 241 8828

Familial Hypercholesterolaemia Service

Institute of Genetic Medicine

International Centre for Life

Central Parkway

Newcastle upon Tyne

NE1 3BZ

Objectives/ Resources

See our Patient Information leaflet

Northern England Evaluation and Lipid Intensification guideline

https://www.newcastlelaboratories.com/wp-content/uploads/2021/12/FH-NEELI-Final-10.2.pdf

Strategic Priorities in Cardiovascular Disease Prevention; expanding access to genetic testing for familial hypercholesterolaemia. See the link to the NHS long term plan page 62; https://www.longtermplan.nhs.uk/wp-content/uploads/2019/08/nhs-long-term-plan-version-1.2.pdf

Increase identification of Familial hypercholesterolaemia in primary care; see the work undertaken by the Academic Health Science Network North east and Cumbria to improve population health. https://www.ahsn-nenc.org.uk/what-we-do/improving-population-health/familial-hypercholesterolaemia-fh/

Identifying undiagnosed FH patients in primary or secondary; case finding criteria. http://guidance.nice.org.uk/CG71.

Guidance on managing polygenic and monogenic hypercholesterolaemia and other inherited lipid conditions. Referral pathways into local lipid clinics.

Resources available to promote healthy diet and lifestyle choices. https://www.heartuk.org.uk/resources-tools-and-publications/publications-available

Lipid management -PCSK9 inhibitors; eligibility in patients with familial hypercholesterolaemia or vascular disease and recommendations for use of Alirocumab and Evolocumab; https://www.nice.org.uk/guidance/TA394