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1. Integrated Guidance for Enhancing the Care of Familial Hypercholesterolaemia in Australia.

Author

Hamilton-Craig I., Pang J., Ademi Z., Ardill J.J., Barnett W., Bates T.R., Beilin L.J., Bishop W., Black J.A., Brett P., Brown A., Burnett J.R., Bursill C.A., Colley A., Clifton P.M., Ekinci E.I., Elias L., Figtree G.A., Forge B.H., Garton-Smith J., Graham D.F., Hamilton-Craig C.R., Heal C., Hespe C.M., Hooper A.J., Howes L.G., Ingles J., Irvin J., Janus E.D., Kangaharan N., Keech A.C., Kirke A.B., Kritharides L., Kyle C.V., Lacaze P., Lambert K., Li S.C.H., Malan W., Maticevic S., McQuillan B.M., Mirzaee S., Mori T.A., Morton A.C., Colquhoun D.M., Moullin J.C., Nestel P.J., Nowak K.J., O'Brien R.C., Pachter N., Page M.M., Pedrotti A., Psaltis P.J., Radford J., Reid N.J., Robertson E.N., Ryan J.D.M., Sarkies M.N., Schultz C.J., Scott R.S., Semsarian C., Simons L.A., Spinks C., Tonkin A.M., van Bockxmeer F., Waddell-Smith K.E., Ward N.C., White H.D., Wilson A.M., Winship I., Woodward A.M., Nicholls S.J., Watts G.F., Sullivan D.R., Hare D.L., Kostner K.M., Horton A.E., Bell D.A., Brett T., Trent R.J., Poplawski N.K., Martin A.C., Srinivasan S., Justo R.N., Chow C.K., Hamilton-Craig I., Pang J., Ademi Z., Ardill J.J., Barnett W., Bates T.R., Beilin L.J., Bishop W., Black J.A., Brett P., Brown A., Burnett J.R., Bursill C.A., Colley A., Clifton P.M., Ekinci E.I., Elias L., Figtree G.A., Forge B.H., Garton-Smith J., Graham D.F., Hamilton-Craig C.R., Heal C., Hespe C.M., Hooper A.J., Howes L.G., Ingles J., Irvin J., Janus E.D., Kangaharan N., Keech A.C., Kirke A.B., Kritharides L., Kyle C.V., Lacaze P., Lambert K., Li S.C.H., Malan W., Maticevic S., McQuillan B.M., Mirzaee S., Mori T.A., Morton A.C., Colquhoun D.M., Moullin J.C., Nestel P.J., Nowak K.J., O'Brien R.C., Pachter N., Page M.M., Pedrotti A., Psaltis P.J., Radford J., Reid N.J., Robertson E.N., Ryan J.D.M., Sarkies M.N., Schultz C.J., Scott R.S., Semsarian C., Simons L.A., Spinks C., Tonkin A.M., van Bockxmeer F., Waddell-Smith K.E., Ward N.C., White H.D., Wilson A.M., Winship I., Woodward A.M., Nicholls S.J., Watts G.F., Sullivan D.R., Hare D.L., Kostner K.M., Horton A.E., Bell D.A., Brett T., Trent R.J., Poplawski N.K., Martin A.C., Srinivasan S., Justo R.N., and Chow C.K.

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

Published
2021

2. Essentials of a new clinical practice guidance on familial hypercholesterolaemia for physicians.

Author

Watts G.F., Sullivan D.R., Hare D.L., Kostner K.M., Horton A.E., Bell D.A., Brett T., Trent R.J., Poplawski N.K., Martin A.C., Srinivasan S., Justo R.N., Chow C.K., Pang J., Watts G.F., Sullivan D.R., Hare D.L., Kostner K.M., Horton A.E., Bell D.A., Brett T., Trent R.J., Poplawski N.K., Martin A.C., Srinivasan S., Justo R.N., Chow C.K., and Pang J.

Abstract

Familial hypercholesterolaemia (FH) is a common, heritable and preventable cause of premature coronary artery disease. New clinical practice recommendations are presented to assist practitioners in enhancing the care of all patients with FH. Core recommendations are made on the detection, diagnosis, assessment and management of adults, children and adolescents with FH. Management is under-pinned by the precepts of risk stratification, adherence to healthy lifestyles, treatment of non-cholesterol risk factors and appropriate use of low-density lipoprotein (LDL)-cholesterol-lowering therapies including statins, ezetimibe and proprotein convertase subtilisin/kexin type 9 (PCSK9) inhibitors. The recommendations need to be utilised using judicious clinical judgement and shared decision-making with patients and families. New government-funded schemes for genetic testing and use of PCSK9 inhibitors, as well as the National Health Genomics Policy Framework, will enable adoption of the recommendations. However, a comprehensive implementation science and practice strategy is required to ensure that the guidance translates into benefit for all families with FH.Copyright © 2021 Royal Australasian College of Physicians.

Published
2021

3. Integrated Guidance for Enhancing the Care of Familial Hypercholesterolaemia in Australia.

Author

Hamilton-Craig I., Pang J., Ademi Z., Ardill J.J., Barnett W., Bates T.R., Beilin L.J., Bishop W., Black J.A., Brett P., Brown A., Burnett J.R., Bursill C.A., Colley A., Clifton P.M., Ekinci E.I., Elias L., Figtree G.A., Forge B.H., Garton-Smith J., Graham D.F., Hamilton-Craig C.R., Heal C., Hespe C.M., Hooper A.J., Howes L.G., Ingles J., Irvin J., Janus E.D., Kangaharan N., Keech A.C., Kirke A.B., Kritharides L., Kyle C.V., Lacaze P., Lambert K., Li S.C.H., Malan W., Maticevic S., McQuillan B.M., Mirzaee S., Mori T.A., Morton A.C., Colquhoun D.M., Moullin J.C., Nestel P.J., Nowak K.J., O'Brien R.C., Pachter N., Page M.M., Pedrotti A., Psaltis P.J., Radford J., Reid N.J., Robertson E.N., Ryan J.D.M., Sarkies M.N., Schultz C.J., Scott R.S., Semsarian C., Simons L.A., Spinks C., Tonkin A.M., van Bockxmeer F., Waddell-Smith K.E., Ward N.C., White H.D., Wilson A.M., Winship I., Woodward A.M., Nicholls S.J., Watts G.F., Sullivan D.R., Hare D.L., Kostner K.M., Horton A.E., Bell D.A., Brett T., Trent R.J., Poplawski N.K., Martin A.C., Srinivasan S., Justo R.N., Chow C.K., Hamilton-Craig I., Pang J., Ademi Z., Ardill J.J., Barnett W., Bates T.R., Beilin L.J., Bishop W., Black J.A., Brett P., Brown A., Burnett J.R., Bursill C.A., Colley A., Clifton P.M., Ekinci E.I., Elias L., Figtree G.A., Forge B.H., Garton-Smith J., Graham D.F., Hamilton-Craig C.R., Heal C., Hespe C.M., Hooper A.J., Howes L.G., Ingles J., Irvin J., Janus E.D., Kangaharan N., Keech A.C., Kirke A.B., Kritharides L., Kyle C.V., Lacaze P., Lambert K., Li S.C.H., Malan W., Maticevic S., McQuillan B.M., Mirzaee S., Mori T.A., Morton A.C., Colquhoun D.M., Moullin J.C., Nestel P.J., Nowak K.J., O'Brien R.C., Pachter N., Page M.M., Pedrotti A., Psaltis P.J., Radford J., Reid N.J., Robertson E.N., Ryan J.D.M., Sarkies M.N., Schultz C.J., Scott R.S., Semsarian C., Simons L.A., Spinks C., Tonkin A.M., van Bockxmeer F., Waddell-Smith K.E., Ward N.C., White H.D., Wilson A.M., Winship I., Woodward A.M., Nicholls S.J., Watts G.F., Sullivan D.R., Hare D.L., Kostner K.M., Horton A.E., Bell D.A., Brett T., Trent R.J., Poplawski N.K., Martin A.C., Srinivasan S., Justo R.N., and Chow C.K.

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

Published
2021

4. Essentials of a new clinical practice guidance on familial hypercholesterolaemia for physicians.

Author

Watts G.F., Sullivan D.R., Hare D.L., Kostner K.M., Horton A.E., Bell D.A., Brett T., Trent R.J., Poplawski N.K., Martin A.C., Srinivasan S., Justo R.N., Chow C.K., Pang J., Watts G.F., Sullivan D.R., Hare D.L., Kostner K.M., Horton A.E., Bell D.A., Brett T., Trent R.J., Poplawski N.K., Martin A.C., Srinivasan S., Justo R.N., Chow C.K., and Pang J.

Abstract

Familial hypercholesterolaemia (FH) is a common, heritable and preventable cause of premature coronary artery disease. New clinical practice recommendations are presented to assist practitioners in enhancing the care of all patients with FH. Core recommendations are made on the detection, diagnosis, assessment and management of adults, children and adolescents with FH. Management is under-pinned by the precepts of risk stratification, adherence to healthy lifestyles, treatment of non-cholesterol risk factors and appropriate use of low-density lipoprotein (LDL)-cholesterol-lowering therapies including statins, ezetimibe and proprotein convertase subtilisin/kexin type 9 (PCSK9) inhibitors. The recommendations need to be utilised using judicious clinical judgement and shared decision-making with patients and families. New government-funded schemes for genetic testing and use of PCSK9 inhibitors, as well as the National Health Genomics Policy Framework, will enable adoption of the recommendations. However, a comprehensive implementation science and practice strategy is required to ensure that the guidance translates into benefit for all families with FH.Copyright © 2021 Royal Australasian College of Physicians.

Published
2021

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

Author

Watts, G.F., Sullivan, D.R., Hare, D.L., Kostner, K.M., Horton, A.E., Bell, D.A., Brett, T., Trent, R.J., Poplawski, N.K., Martin, A.C., Srinivasan, S., Justo, R.N., Chow, C.K., Pang, J., Ademi, Z., Ardill, J.J., Barnett, W., Bates, T.R, Beilin, L.J., Bishop, W., Black, J.A., Brown, A., Burnett, J.R., Bursill, C.A., Colley, A., Clifton, P.M., Ekinci, E.I., Figtree, G.A., Forge, B.H., Garton-Smith, J., Graham, D.F., Hamilton-Craig, I., Hamilton-Craig, C.R., Heal, C., Hespe, C.M., Hooper, A.J., Howes, L.G., Ingles, J., Janus, E.D., Kangaharan, N., Keech, A.C., Kirke, A.B., Kritharides, L., Kyle, C.V., Lacaze, P., Li, S.C.H., Maticevic, S., McQuillan, B.M., Mirzaee, S., Mori, T.A., Morton, A.C., Colquhoun, D.M., Moullin, J.C., Nestel, P.J., Nowak, K.J., O'Brien, R.C., Pachter, N., Page, M.M., Psaltis, P.J., Radford, J., Reid, N.J., Robertson, E.N., Ryan, J.D.M., Sarkies, M.N., Schultz, C.J., Scott, R.S., Semsarian, C., Simons, L.A., Spinks, C., Tonkin, A.M., van Bockxmeer, F., Waddell-Smith, K.E., Ward, N.C., White, H.D., Wilson, A.M., Winship, I., Woodward, A.M., Nicholls, S.J., Brett, P., Elias, L., Malan, W., Irvin, J., Lambert, K., Pedrotti, A., Watts, G.F., Sullivan, D.R., Hare, D.L., Kostner, K.M., Horton, A.E., Bell, D.A., Brett, T., Trent, R.J., Poplawski, N.K., Martin, A.C., Srinivasan, S., Justo, R.N., Chow, C.K., Pang, J., Ademi, Z., Ardill, J.J., Barnett, W., Bates, T.R, Beilin, L.J., Bishop, W., Black, J.A., Brown, A., Burnett, J.R., Bursill, C.A., Colley, A., Clifton, P.M., Ekinci, E.I., Figtree, G.A., Forge, B.H., Garton-Smith, J., Graham, D.F., Hamilton-Craig, I., Hamilton-Craig, C.R., Heal, C., Hespe, C.M., Hooper, A.J., Howes, L.G., Ingles, J., Janus, E.D., Kangaharan, N., Keech, A.C., Kirke, A.B., Kritharides, L., Kyle, C.V., Lacaze, P., Li, S.C.H., Maticevic, S., McQuillan, B.M., Mirzaee, S., Mori, T.A., Morton, A.C., Colquhoun, D.M., Moullin, J.C., Nestel, P.J., Nowak, K.J., O'Brien, R.C., Pachter, N., Page, M.M., Psaltis, P.J., Radford, J., Reid, N.J., Robertson, E.N., Ryan, J.D.M., Sarkies, M.N., Schultz, C.J., Scott, R.S., Semsarian, C., Simons, L.A., Spinks, C., Tonkin, A.M., van Bockxmeer, F., Waddell-Smith, K.E., Ward, N.C., White, H.D., Wilson, A.M., Winship, I., Woodward, A.M., Nicholls, S.J., Brett, P., Elias, L., Malan, W., Irvin, J., Lambert, K., and Pedrotti, A.

Abstract

Introduction Familial hypercholesterolaemia (FH) is a common, heritable and preventable cause of premature coronary artery disease, with significant potential for positive impact on public health and healthcare savings. New clinical practice recommendations are presented in an abridged guidance to assist practitioners in enhancing the care of all patients with FH. Main recommendations Core recommendations are made on the detection, diagnosis, assessment and management of adults, children and adolescents with FH. There is a key role for general practitioners (GPs) working in collaboration with specialists with expertise in lipidology. Advice is given on genetic and cholesterol testing and risk notification of biological relatives undergoing cascade testing for FH; all healthcare professionals should develop skills in genomic medicine. Management is under-pinned by the precepts of risk stratification, adherence to healthy lifestyles, treatment of non-cholesterol risk factors, and appropriate use of low-density lipoprotein (LDL)-cholesterol lowering therapies, including statins, ezetimibe and proprotein convertase subtilisin/kexin type 9 (PCSK9) inhibitors. Recommendations on service design are provided in the full guidance. Potential impact on care of FH These recommendations need to be utilised using judicious clinical judgement and shared decision making with patients and families. Models of care need to be adapted to both local and regional needs and resources. In Australia new government funded schemes for genetic testing and use of PCSK9 inhibitors, as well as the National Health Genomics Policy Framework, will enable adoption of these recommendations. A broad implementation science strategy is, however, required to ensure that the guidance translates into benefit for all families with FH.

Published
2021

6. Essentials of a new clinical practice guidance on familial hypercholesterolaemia for physicians

Author

Watts, G.F., Sullivan, D.R., Hare, D.L., Kostner, K.M., Horton, A.E., Bell, D.A., Brett, T., Trent, R.J., Poplawski, N.K., Martin, A.C., Srinivasan, S., Justo, R.N., Chow, C.K., Pang, J., Ademi, Z., Ardill, J.J., Barnett, W., Bates, T.R., Beilin, L.J., Bishop, W., Black, J.A., Brown, A., Burnett, J.R., Bursill, C.A., Colley, A., Clifton, P.M., Ekinci, E.I., Figtree, G.A., Forge, B.H., Garton‐Smith, J., Graham, D.F., Hamilton‐Craig, I., Hamilton‐Craig, C.R., Heal, C., Hespe, C.M., Hooper, A.J., Howes, L.G., Ingles, J., Janus, E.D., Kangaharan, N., Keech, A.C., Kirke, A.B., Kritharides, L., Kyle, C.V., Lacaze, P., Li, S.C.H., Maticevic, S., McQuillan, B.M., Mirzaee, S., Mori, T.A., Morton, A.C., Colquhoun, D.M., Moullin, J.C., Nestel, P.J., Nowak, K.J., O'Brien, R.C., Pachter, N., Page, M.M., Psaltis, P.J., Radford, J., Reid, N.J., Robertson, E.N., Ryan, J.D.M., Sarkies, M.N., Schultz, C.J., Semsarian, C., Simons, L.A., Spinks, C., Tonkin, A.M., van Bockxmeer, F., Waddell‐Smith, K.E., Ward, N.C., White, H.D., Wilson, A.M., Winship, I., Woodward, A.M., Nicholls, S.J., Elias, L., Malan, W., Irvin, J., Lambert, K., Pedrotti, A., Watts, G.F., Sullivan, D.R., Hare, D.L., Kostner, K.M., Horton, A.E., Bell, D.A., Brett, T., Trent, R.J., Poplawski, N.K., Martin, A.C., Srinivasan, S., Justo, R.N., Chow, C.K., Pang, J., Ademi, Z., Ardill, J.J., Barnett, W., Bates, T.R., Beilin, L.J., Bishop, W., Black, J.A., Brown, A., Burnett, J.R., Bursill, C.A., Colley, A., Clifton, P.M., Ekinci, E.I., Figtree, G.A., Forge, B.H., Garton‐Smith, J., Graham, D.F., Hamilton‐Craig, I., Hamilton‐Craig, C.R., Heal, C., Hespe, C.M., Hooper, A.J., Howes, L.G., Ingles, J., Janus, E.D., Kangaharan, N., Keech, A.C., Kirke, A.B., Kritharides, L., Kyle, C.V., Lacaze, P., Li, S.C.H., Maticevic, S., McQuillan, B.M., Mirzaee, S., Mori, T.A., Morton, A.C., Colquhoun, D.M., Moullin, J.C., Nestel, P.J., Nowak, K.J., O'Brien, R.C., Pachter, N., Page, M.M., Psaltis, P.J., Radford, J., Reid, N.J., Robertson, E.N., Ryan, J.D.M., Sarkies, M.N., Schultz, C.J., Semsarian, C., Simons, L.A., Spinks, C., Tonkin, A.M., van Bockxmeer, F., Waddell‐Smith, K.E., Ward, N.C., White, H.D., Wilson, A.M., Winship, I., Woodward, A.M., Nicholls, S.J., Elias, L., Malan, W., Irvin, J., Lambert, K., and Pedrotti, A.

Abstract

Familial hypercholesterolaemia (FH) is a common, heritable and preventable cause of premature coronary artery disease. New clinical practice recommendations are presented to assist practitioners in enhancing the care of all patients with FH. Core recommendations are made on the detection, diagnosis, assessment and management of adults, children and adolescents with FH. Management is under-pinned by the precepts of risk stratification, adherence to healthy lifestyles, treatment of non-cholesterol risk factors and appropriate use of low-density lipoprotein (LDL)-cholesterol-lowering therapies including statins, ezetimibe and proprotein convertase subtilisin/kexin type 9 (PCSK9) inhibitors. The recommendations need to be utilised using judicious clinical judgement and shared decision-making with patients and families. New government-funded schemes for genetic testing and use of PCSK9 inhibitors, as well as the National Health Genomics Policy Framework, will enable adoption of the recommendations. However, a comprehensive implementation science and practice strategy is required to ensure that the guidance translates into benefit for all families with FH.

Published
2021

7. Integrated guidance for enhancing the care of familial hypercholesterolaemia in Australia

Author

Watts, G.F., Sullivan, D.R., Hare, D.L., Kostner, K.M., Horton, A.E., Bell, D.A., Brett, T., Trent, R.J., Poplawski, N.K., Martin, A.C., Srinivasan, S., Justo, R.N., Chow, C.K., Pang, J., Ademi, Z., Ardill, J.J., Barnett, W., Bates, T.R., Beilin, L.J., Bishop, W., Black, J.A., Brett, P., Brown, A., Burnett, J.R., Bursill, C.A., Colley, A., Clifton, P.M., Ekinci, E.I., Elias, L., Figtree, G.A., Forge, B.H., Garton-Smith, J., Graham, D.F., Hamilton-Craig, I., Hamilton-Craig, C.R., Heal, C., Hespe, C.M., Hooper, A.J., Howes, L.G., Ingles, J., Irvin, J., Janus, E.D., Kangaharan, N., Keech, A.C., Kirke, A.B., Kritharides, L., Kyle, C.V., Lacaze, P., Lambert, K., Li, S.C.H., Malan, W., Maticevic, S., McQuillan, B.M., Mirzaee, S., Mori, T.A., Morton, A.C., Colquhoun, D.M., Moullin, J.C., Nestel, P.J., Nowak, K.J., O'Brien, R.C., Pachter, N., Page, M.M., Pedrotti, A., Psaltis, P.J., Radford, J., Reid, N.J., Robertson, E.N., Ryan, J.D.M., Sarkies, M.N., Schultz, C.J., Scott, R.S., Semsarian, C., Simons, L.A., Spinks, C., Tonkin, A.M., van Bockxmeer, F., Waddell-Smith, K.E., Ward, N.C., White, H.D., Wilson, A.M., Winship, I., Woodward, A.M., Nicholls, S.J., Watts, G.F., Sullivan, D.R., Hare, D.L., Kostner, K.M., Horton, A.E., Bell, D.A., Brett, T., Trent, R.J., Poplawski, N.K., Martin, A.C., Srinivasan, S., Justo, R.N., Chow, C.K., Pang, J., Ademi, Z., Ardill, J.J., Barnett, W., Bates, T.R., Beilin, L.J., Bishop, W., Black, J.A., Brett, P., Brown, A., Burnett, J.R., Bursill, C.A., Colley, A., Clifton, P.M., Ekinci, E.I., Elias, L., Figtree, G.A., Forge, B.H., Garton-Smith, J., Graham, D.F., Hamilton-Craig, I., Hamilton-Craig, C.R., Heal, C., Hespe, C.M., Hooper, A.J., Howes, L.G., Ingles, J., Irvin, J., Janus, E.D., Kangaharan, N., Keech, A.C., Kirke, A.B., Kritharides, L., Kyle, C.V., Lacaze, P., Lambert, K., Li, S.C.H., Malan, W., Maticevic, S., McQuillan, B.M., Mirzaee, S., Mori, T.A., Morton, A.C., Colquhoun, D.M., Moullin, J.C., Nestel, P.J., Nowak, K.J., O'Brien, R.C., Pachter, N., Page, M.M., Pedrotti, A., Psaltis, P.J., Radford, J., Reid, N.J., Robertson, E.N., Ryan, J.D.M., Sarkies, M.N., Schultz, C.J., Scott, R.S., Semsarian, C., Simons, L.A., Spinks, C., Tonkin, A.M., van Bockxmeer, F., Waddell-Smith, K.E., Ward, N.C., White, H.D., Wilson, A.M., Winship, I., Woodward, A.M., and Nicholls, S.J.

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

Published
2021

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