Screening for Familial Hypercholesterolemia

Mum and baby receiving a heel prick test

Project overview

The study screens children for the most common and serious form of inherited high cholesterol called familial hypercholesterolemia (FH). To make it easier to participate the test is done at the same time as a routine immunisation appointment.

We will also assess the accuracy of child-parent screening for FH in both General Practices and child health centres in Western Australia.

Project background

What is familial hypercholesterolemia (FH)?

FH is the most common and serious form of inherited high cholesterol. It is a genetic condition that leads to a 20-fold increase risk of a heart attack.

FH affects approximately 1 in 250 people. It results in very high levels of cholesterol in the blood, from the time of birth.

FH is a genetic condition that is passed on from one generation to the next, both men and women can inherit the condition

Why is early diagnosis important?

The optimal time to screen for the condition is between 12 and 24 months of age.

Once diagnosed, medical treatment can be offered to reduce the risk of developing a heart attack at a young age.

Children who are diagnosed and treated from a young age can expect to have a normal life expectancy so early diagnosis is important.

Since FH is a genetic condition, once a child has been diagnosed, other family members (who are unlikely to be aware they also have the condition) can be offered screening. If they are found to have FH, they can be provided with expert medical care and treatment to prevent a heart attack occurring.

About this study

  • Participation is voluntary.
  • The screening process involves a heel prick collecting a small sample of blood and only takes a couple of minutes.
  • No special preparation is required. No cost is involved.
  • The results from this study will also help determine if a state wide program could identify the majority of people with FH in WA.
  • To find out more or register to participate get in touch with the research team. See the Contact Us section for details.

Project researchers 

Lead researcher

Dr Andrew Martin, Consultant Paediatrician

Project staff

Alan Kuipers-Chan, A/Senior Coordinator Business Support Strategy and Development

Research staff

Cath Frauenfelder and Cherie Conroy, Research Nurses

Funding partners

Perth Children’s Hospital Foundation and Channel 7 Telethon Trust.

Last Updated: 01/07/2022