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- GPs and specialists should refer patients they suspect of having FH to cascade screening programs in their state. See cascade screening centres below.
- Owing to the autosomal dominance of FH, systematic screening of family members is the most effective way of detecting FH before the onset of cardiovascular symptoms, thereby reducing heart disease.
- FH can be readily diagnosed with good clinical history, lipid profile and/or DNA testing.
- The first person in a family identified as having FH is referred to as the index case. With this person’s consent, all available first degree family members should be contacted, risk notified and offered screening. This includes children of affected family members.
- The detection of FH in children and adolescents of family members with a confirmed diagnosis of FH allows treatment to commence before significant atherosclerosis develops thus preventing early onset CVD.
- Early treatment improves outcome. Cohort studies and clinical trials show that cholesterol lowering with statins lowers the risk of CHD.
- It is estimated that around 80% of people who have FH are not aware they have this genetic condition and are therefore not receiving treatment.
Cascade screening centres
New South Wales