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 check for other signs of FH to make a clinical diagnosis (Dutch Lipid Clinic Network Score). GP's 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 such as a cardiologist (heart specialist), endocrinologist (hormone specialist) or lipid specialist. Depending on your age, and other factors, you may also be advised to have some tests to check the health of your heart.

All first degree relatives (parents, siblings, children) should also have cholesterol checks to identify FH because there is a 50% chance that they have also inherited FH. 

The FH Clinical Support Service

The FH Clinical Support Service operates through the Vascular Health Clinic at RPA Hospital, which is led by Lipid Specialist, A/Professor David Sullivan. The multidisciplinary clinic provides expert care for individuals with complex lipid disorders. The clinic team is comprised of medical specialists, dietitians, clinical nurse and genetic counsellor. A referral letter is required to attend the Vascular Health Clinic, which can be made out by a GP or specialist doctor.

New referrals to the Vascular Health Clinic can be emailed directly to SLHD-RPALipidClinic@health.nsw.gov.au or faxed to 9515 6186. For appointment enquiries, please call the Clinic on 9515 5246.

All new referrals are reviewed and triaged. Please include patient phone number.  

Genetic testing for FH

Relatives from families with a confirmed genetic diagnosis of FH may seek cascade testing for the family specific gene variant through their GP, under Medicare item number 73353. We are also available to offer support to patients and GP's in arranging appropriate cascade genetic testing for family members.

Diagnostic genetic testing can be ordered by specialist doctors under the Medicare item number 73352 if specific criteria are met.

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

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