Design: Cross-sectional national registry analysis
Population: 341 children and adolescents with FH in 17 Australian lipid clinics
Primary outcome: Age at diagnosis, genetic testing, therapy, LDL-C goal attainment, Lp(a) testing
Effect: LDL goal met in 48.3%; genetic testing 52.6%; Lp(a) tested 33.7%

The Australian National FH Registry analysed 341 children and adolescents with familial hypercholesterolaemia across 17 specialist lipid clinics, enrolled from 2015 to 2026. It was published in Archives of Disease in Childhood in September.

Mean age at enrolment was 11.9 years, after the age at which treatment is recommended to begin. Only 52.6% had genetic testing. Mean untreated LDL cholesterol was 6.2 mmol/L. Although 85.4% were on lipid-lowering therapy, mostly statins, only 12.7% received ezetimibe, the mean treated LDL was 3.8 mmol/L and only 48.3% reached the guideline target. Lipoprotein(a) was measured in 33.7%.

These are specialist clinics in a well-resourced system, so gaps elsewhere are likely wider. The practical point for general paediatrics is detection: cascade testing from an affected parent and a low threshold for a lipid profile when there is early coronary disease in the family.

Ask about premature coronary disease or very high cholesterol in parents and grandparents.
Check a lipid profile in children of any parent with FH, ideally from age 5.
Refer suspected FH for genetic testing and cascade screening.
Measure lipoprotein(a) once when FH is diagnosed.
Add ezetimibe when a statin alone does not reach target.

Why it matters

Most children with FH are found too late and fewer than half reach target once treated.

The statistics, in plain English

This is a cross-sectional registry of children already under specialist care, so it describes practice rather than testing a treatment. Children never diagnosed are not counted, which means the true detection gap is larger.