Reducing Premature Coronary Artery Disease in Malaysia by Early Identification of Familial Hypercholesterolaemia using FAMCAT Primary Care Screening Tool: A Mixed-Methods Evaluation Study Protocol.

JMIR research protocols(2023)

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摘要
This study will provide evidence on which clinical diagnostic criteria is the best to detect FH in the Malaysian primary care setting. The full spectrum of genetic mutations in the FHCG including novel pathogenic variants will be identified. Patients' perspectives while undergoing genetic testing and the primary care physicians experience in utilising the web-based tool will be established. These findings will have tremendous impact on FH patients' management in primary care and subsequently reduce their risk of premature CAD.
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