Integrated Guidance for Enhancing the Care of Familial Hypercholesterolaemia in Australia

Abstract

Familial hypercholesterolaemia (FH) is a dominant and highly penetrant monogenic disorder present from birth that markedly elevates plasma low-density lipoprotein (LDL)-cholesterol concentration and, if untreated, leads to premature atherosclerosis and coronary artery disease (CAD). There are approximately 100,000 people with FH in Australia. However, an overwhelming majority of those affected remain undetected and inadequately treated, consistent with FH being a leading challenge for public health genomics. To further address the unmet need, we provide an updated guidance, presented as a series of systematically collated recommendations, on the care of patients and families with FH. These recommendations have been informed by an exponential growth in published works and new evidence over the last 5 years and are compatible with a contemporary global call to action on FH. Recommendations are given on the detection, diagnosis, assessment and management of FH in adults and children. Recommendations are also made on genetic testing and risk notification of biological relatives who should undergo cascade testing for FH. Guidance on management is based on the concepts of risk re-stratification, adherence to heart healthy lifestyles, treatment of non-cholesterol risk factors, and safe and appropriate use of LDL-cholesterol lowering therapies, including statins, ezetimibe, proprotein convertase subtilisin/kexin type 9 inhibitors and lipoprotein apheresis. Broad recommendations are also provided for the organisation and development of health care services. Recommendations on best practice need to be underpinned by good clinical judgment and shared decision making with patients and families. Models of care for FH need to be adapted to local and regional health care needs and available resources. A comprehensive and realistic implementation strategy, informed by further research, including assessments of cost-benefit, will be required to ensure that this new guidance benefits all Australian families with or at risk of FH.

Synopsis of an integrated guidance for enhancing the care of familial hypercholesterolaemia: an Australian perspective

“…A steering committee, selected from board members of the FH Australasia Registry Network [5] , appointed a writing group and invited contributions from diverse clinical specialties and health consumers [4] . The protocols followed are detailed elsewhere [4] . Evaluation of the published evidence on the care of FH was based on the GRADE system [ 4 , 6 ].…”

“…The protocols followed are detailed elsewhere [4] . Evaluation of the published evidence on the care of FH was based on the GRADE system [ 4 , 6 ]. The totality of evidence, including expert opinion and patient preferences, informed the recommendations.…”

“…Recommendations are presented with a class of recommendation (CoR) and level of evidence (LoE). Additional recommendations, including lipoprotein apheresis and organisation of care, are given in the full guidance [4] .…”

“…This synopsis provides the key recommendations as actionable statements with their strength of evidence. The full guidance, endorsed by several organisations (see appendix), is available in Heart, Lung and Circulation at https://doi.org/10.1016/j.hlc.2020.09.943 [4] .…”

Improving detection and management of familial hypercholesterolaemia in Australian general practice

“…5 6 Of these, the DLCNC score remains the most popular diagnostic method in Australia. 6 FH screening of electronic health records (EHRs) in primary care can identify patients with high DLCNC score. [15][16][17] We have previously validated a time and cost-effective electronic screening tool (TARB-Ex) to help identify potential risk patients based on their DLCNC score.…”