September 9, 2026 · Archives of disease in childhood · DOI: 10.1136/archdischild-2026-331003

Paediatric familial hypercholesterolaemia in Australia: a real-world registry study

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The authors aimed to characterize the detection and management of children and adolescents with familial hypercholesterolaemia (FH) in Australia by analyzing data from the National FH Registry. They found significant gaps in care, including late diagnoses, low rates of genetic testing, and inadequate attainment of LDL-C goals despite treatment. The study highlights the need for improved screening and management strategies to enhance outcomes for affected children.

Andrew C Martin, Shubha Srinivasan, Robert N Justo, Kathryn E Waddell-Smith, David R Sullivan, Ari E Horton, Dick C Chan, Jing Pang, Gerald F Watts

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