Medical Genomics / Clinical Genetics

Familial Hypercholesterolemia

What is Familial Hypercholesterolaemia?

Familial Hypercholesterolaemia (also known as FH) is an inherited condition that causes high cholesterol levels in the blood from a young age and increases the risk of heart disease in young people. FH literally means “high cholesterol in the family”.  Early detection and treatment of FH can greatly reduce a person’s risk of developing heart disease or stroke.

What can you do?

Your local doctor (GP) can order a cholesterol test and explain the results. GPs can prescribe cholesterol lowering medications and monitor how you respond to them. If you receive a diagnosis of FH you may also be referred to a specialist clinic like ours. Depending on your age, you may also be advised to see a cardiologist to check the health of your heart.

The FH Clinical Support Service

The Lipid Management Clinic at RPA Hospital is led by Lipid Specialist, Professor David Sullivan. The multidisciplinary clinic provides expert care for individuals and families with FH, among other complex lipid disorders and is comprised of medical specialists, dietitians, clinical nurse and genetic counsellor.

New referrals can be emailed directly to sslhd-rpalipidclinic@health.nsw.gov.au or faxed to 9515 6186. All new referrals are reviewed and triaged. Patients will be contacted directly with an appointment time.

For further information about our service please contact our Genetic Counsellor, Catherine Spinks on 02 9515 5062 or catherine.spinks@health.nsw.gov.au.

Genetic testing for FH

All requests for FH genetic testing need to be reviewed and approved by Clinical Biochemist, Professor David Sullivan.

Diagnostic genetic testing can be ordered by Clinical Geneticists and Clinical Biochemists who are clinically responsible for the patient.

Relatives from families with a confirmed genetic diagnosis of FH seeking cascade genetic testing should be seen by a clinical geneticist/genetic counsellor prior to testing. For further information please contact our Genetic Counsellor, Catherine Spinks on 02 9515 5062 or RPAHgene.clinic@health.nsw.gov.au.

For more information about FH, please get in touch, or visit the National FH Registry website.