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.
Highlights
BackgroundIndisputable evidence confirms the causal role of low-density lipoprotein (LDL) particles in the initiation and development of atherosclerotic cardiovascular disease (ASCVD) [1,2]
Context and PerspectiveLow-Density Lipoproteins, Atherosclerosis and Familial HypercholesterolaemiaIndisputable evidence confirms the causal role of low-density lipoprotein (LDL) particles in the initiation and development of atherosclerotic cardiovascular disease (ASCVD) [1,2]
CKC has participated either as a participant or speaker in educational meetings sponsored by pharmaceutical companies that make lipid-lowering therapies
Summary
Indisputable evidence confirms the causal role of low-density lipoprotein (LDL) particles in the initiation and development of atherosclerotic cardiovascular disease (ASCVD) [1,2]. 9.1 The design and implementation of models of care for familial hypercholesterolaemia (FH) should be based on the foundational principles of public health, as well as precision and preventative medicine 9.2 Health care pathways should be developed to meet the needs of local, regional and remote communities, and their acceptability to health consumers and health care professionals (including primary care), as well as their cost-effectiveness and value, should be reviewed regularly 9.3 Specialist services should be designed to cover a broad continuum of care for all patients with FH, encompassing both public and private sectors, and should employ multi-disciplinary strategies that are closely integrated with primary care 9.4 Specialist care should have access to lipidology, cardiology, endocrinology, paediatric, genetic, imaging, transfusion medicine, nursing, dietetic, psychology, pharmacy practice, pathology and telehealth services 9.5 General practice is central to the continuity of care of all FH patients and their families and should be actively involved in screening, diagnosis, supporting families, shared care with other specialties, managing cholesterol-lowering medication and multi-morbidities, and implementing context-specific models of care for FH 9.6 Cascade testing and risk notification should ideally be undertaken by trained staff and coordinated by a centralised service that is well-resourced (eg. includes clinical and allied health staff, information technology and statistical support, telemedicine and educational facilities) 9.7 Cascade testing in primary care should be supported by adequate capacity and infrastructure and collaborate closely with a centralised service (see 9.6) 9.8 Well controlled and lower complexity patients (see 2.5, 2.8 and 3.8) should, in most cases, be managed in primary care 9.9 Less well-controlled and higher complexity patients (see 2.5, 2.9, 3.6, 3.8, 3.11, 3.12 and Table 8) should be managed by specialists with expertise in the management of FH, with the option of shared management with primary care 9.10 All health care professionals involved in the care of FH should receive appropriate education and skills training in cardiovascular prevention, professional counselling and genomic medicine (see Appendix H). 9.11 Services should establish partnerships with academic and professional organisations to enhance teaching, training and research (see Appendix H) 9.12 The existing registry of patients and families (The FH Australasia Network Registry) should be maintained for clinical, research and audit purposes; it should be developed to include patient-centred capabilities, coverage of all health care services (including lipoprotein apheresis), and linkage to other clinical quality and outcomes registries 9.13 The national coding systems for FH should be employed in primary and specialist care to improve the precision of data acquisition and linkage, and their utilisation for audit, research and development of health policy 9.14 The design of adaptive models of care should be underpinned by a research agenda that includes population and basic science, clinical research, patient-centred research, and implementation strategies 9.15 An advocacy and support group of patients and families should be established for enhancing public, government and health care provider awareness, as well as for improving the total quality of care of FH
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