Beyond cascade screening: detection of familial hypercholesterolaemia at childhood immunization and other strategies
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Published on: September 15, 2018
Andrew C Martin1, Damon A Bell, Tom Brett
1aDepartment of General Paediatrics, Princess Margaret Hospital for Children bSchool of Paediatrics and Child Health cFaculty of Health and Medical Sciences, School of Medicine, University of Western Australia dLipid Disorders Clinic, Cardiometabolic Service, Department of Cardiology, Royal Perth Hospital, Perth eGeneral Practice and Primary Care Research, School of Medicine, The University of Notre Dame Australia, Fremantle, Western Australia, Australia.
Insights
Early detection of familial hypercholesterolaemia (FH) is crucial. Combining universal and reverse cascade screening, alongside opportunistic identification, can significantly improve FH diagnosis in the community.
Area of Science:
- Cardiology
- Genetics
- Public Health
Background:
- Familial hypercholesterolaemia (FH) is a prevalent genetic disorder linked to accelerated premature coronary heart disease.
- Despite available treatments, a significant number of FH cases remain undiagnosed.
- Improved detection strategies are vital for managing this condition.
Purpose of the Study:
- To review emerging evidence on novel strategies for enhancing the detection of familial hypercholesterolaemia.
- To identify effective methods for diagnosing FH in community settings.
Main Methods:
- Review of recent studies on familial hypercholesterolaemia screening.
- Analysis of combined universal and reverse cascade testing approaches.
- Evaluation of opportunistic identification methods, including laboratory alerts and electronic health record analysis.
Main Results:
- Universal childhood screening during immunization, coupled with reverse cascade testing of adult relatives, shows high effectiveness.
- Laboratory alerts and bioinformatics analysis of electronic health records can aid community-based FH identification.
- Effective detection and diagnosis are foundational for establishing FH registries.
Conclusions:
- While cost-effectiveness requires further study, integrated screening approaches are promising for community-wide FH detection.
- Combining universal, reverse cascade, and opportunistic screening offers a high yield for identifying FH.
- Leveraging laboratory alerts and EHR data enhances FH detection in diverse settings.
Purpose Of Review:
Familial hypercholesterolaemia is a common genetic disorder that accelerates premature coronary heart disease. Although effective treatments are available, the majority of individuals remain undiagnosed. We review new evidence for improving the detection of familial hypercholesterolaemia.
Recent Findings:
Recent studies have demonstrated that universal screening of children for familial hypercholesterolaemia may be highly effective at the time of immunization if combined with reverse cascade testing of adult family members, who have a more immediate risk of a coronary event. Alerts on laboratory reports and the application of bioinformatics to electronic health records may also be useful for identifying familial hypercholesterolaemia in community settings. Effective detection, diagnosis, and codification of familial hypercholesterolaemia are essential for the development of registries.
Summary:
Although the cost-effectiveness of screening programs for familial hypercholesterolaemia in childhood remains to be established, combining universal and reverse cascade screening, complemented by opportunistic identification of individuals in high-risk settings, use of laboratory alerts, and screening of electronic health records are likely to have a high yield in the detection of familial hypercholesterolaemia in the community.
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