Screening for familial hypercholesterolaemia in primary care: Time for general practice to play its part

Familial hypercholesterolaemia: A guide for general practice

“…Six weeks later, a full blood examination can measure the reduction in LDL-C, and the patient's medication may be titrated accordingly. 4,6,8…”

A window into the heart of familial hypercholesterolaemia in the community

“…Electronic screening algorithms are only as valid as the accuracy of the primary data extracted from the electronic health records. 6 The sample population was ethnically restricted and did not include children. The reference diagnosis of familial hypercholesterolaemia was in part based on phenotypic criteria alone, which are inherently prone to error.…”

“…3 Supplementary detection methods for familial hypercholesterolaemia include opportunistic screening during consultations, pathology report alerts to general practitioners, and inclusion of cholesterol testing in routine health checks in people aged 40-75 years old. 6 But primary care might also have a role in making a formal diagnosis of familial hypercholesterolaemia and managing cholesterollowering therapy, particularly in uncomplicated cases. 6 Testing close family members would also be possible, but appropriate resources and training are required, especially with genetic testing.…”

“…6 But primary care might also have a role in making a formal diagnosis of familial hypercholesterolaemia and managing cholesterollowering therapy, particularly in uncomplicated cases. 6 Testing close family members would also be possible, but appropriate resources and training are required, especially with genetic testing. 1 However, fundamental barriers still need to be overcome to ensure the success of models of care for familial hypercholesterolaemia in primary care.…”

“…These barriers include a lack of general knowledge and skills in lipid management, poor documentation of family history data, and lack of knowledge and skills in cascade testing. 6 Improved public awareness about the value of cholesterol testing, inherited heart disease, and familial hypercholesterolaemia is also essential for successful implementation of detection strategies in the community. 8 Population modelling has suggested that to detect the majority of familial hypercholesterolaemia cases in the community requires more than the systematic searching of electronic health records followed by cascade testing, indicating the worth of universal screening approaches.…”