Screening for Familial Hypercholesterolemia

"A stitch in time saves nine"

How to be involved in a research study that may help prevent heart attacks

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.

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 research 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.

Research Team

  • Lead researcher: Dr Andrew Martin, Consultant Paediatrician
  • Project staff: Alan Kuipers-Chan, A/Senior Coordinator Business Support Strategy and Development
  • Research staff: Cath Frauenfelder / Cherie Conroy, Research Nurses
  • Consumers and Consumer Organisations

Funding and sponsors

We acknowledge our funding sponsors: Perth Children’s Hospital Foundation and Channel 7 Telethon Trust.

Contact Us


Dr Andrew Martin (Consultant Paediatrician) 

6456 2222

Research Nurses: Cath Frauenfelder/ Cherie Conroy

Project News

Currently recruiting participants at:

  • Rheola St Central Immunisation Clinic
  • Kwinana Community Health Centre 
  • Ellen Health General Practice Fremantle
  • Balcatta Child Health Centre