Cardiology

Familial Hypercholesterolaemia

Familial hypercholesterolaemia (FH) is an inherited genetic disorder characterised by very high levels of LDL-cholesterol.

This leads to an increased risk of coronary heart disease at an early age.

Men with untreated familial hypercholesterolaemia have a 50% risk for a coronary event by age 50 (1)

Women with untreated familial hypercholesterolaemia will have a 30% risk for a coronary event by age 60 (2).

Early identification of at-risk individuals enables interventions using earlier and more aggressive lipid-lowering treatments or higher doses.

In Australia, almost 90% of people with FH are undiagnosed.

Genetic testing enables:

• Early treatment to reduce morbidity and mortality
• Family members to be tested and have early monitoring and treatment where required.
• Psychosocial implications

Familial hypercholesterolaemia is diagnosed through genetic testing of a panel of high risk genes.

There are also three well known tools used by doctors to aid in diagnosis. In Australia, we routinely use a tool known as the Dutch Lipid Clinic Network (DLCN) tool. This is a complex scoring tool that will look at your family history of heart disease, your clinical history and your cholesterol levels in addition to your genetic testing. Medicare will only cover testing when certain criteria have been met. Family members of a person with an FH harmful genetic change (pathogenic variant) can be tested for that same gene under Medicare.