Familial hypercholesterolaemia (FH) is an autosomal dominant inherited genetic disorder characterised by very high levels of LDL-cholesterol that is often confused with standard hypercholesterolaemia.
FH 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.
Women with untreated familial hypercholesterolaemia will have a 30% risk for a coronary event by age 60.
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:
Familial hypercholesterolaemia is diagnosed through genetic testing of a panel of high risk genes. Our panel tests 9 genes, although most cases are due to one of three inherited genes - LDLR, Apo B and PCSK9.
There are also three well known tools used to aid in diagnosis. In Australia, we routinely use a tool known as the Dutch Lipid Clinic Network (DLCN) tool. This scoring tool examines a patient's family history of heart disease, their clinical history and their cholesterol levels in addition to genetic testing.
Medicare will only cover FH testing when certain criteria have been met. Family members of a person with an FH pathogenic variant can be tested for that same gene under Medicare.
