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• W3089256847 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. 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. Indisputable evidence confirms the causal role of low-density lipoprotein (LDL) particles in the initiation and development of atherosclerotic cardiovascular disease (ASCVD) [[1]Borén J. Chapman M.J. Krauss R.M. Packard C.J. Bentzon J.F. Binder C.J. et al.Low-density lipoproteins cause atherosclerotic cardiovascular disease: pathophysiological, genetic, and therapeutic insights: a consensus statement from the European Atherosclerosis Society Consensus Panel.Eur Heart J. 2020; 41: 2313-2330Crossref PubMed Scopus (163) Google Scholar,[2]Ference B.A. Schunkert H. Watts G.F. Borén J. Fazio S. Horton J.D. et al.Low-density lipoproteins cause atherosclerotic cardiovascular disease. 1. Evidence from genetic, epidemiologic, and clinical studies. A consensus statement from the European Atherosclerosis Society Consensus Panel.Eur Heart J. 2017; 38: 2459-2472Crossref PubMed Scopus (978) Google Scholar]. The classical feature of familial hypercholesterolaemia (FH) is a marked elevation in plasma LDL-cholesterol concentration from birth due to highly penetrant monogenic defects that impair the hepatic clearance of LDL-cholesterol via the LDL receptor [[3]Watts G.F. Gidding S.S. Mata P. Pang J. Sullivan D.R. Yamashita S. et al.Familial hypercholesterolaemia: evolving knowledge for designing adaptive models of care.Nat Rev Cardiol. 2020; 17: 360-377Crossref PubMed Scopus (25) Google Scholar,[4]Defesche J.C. Gidding S.S. Harada-Shiba M. Hegele R.A. Santos R.D. Wierzbicki A.S. Familial hypercholesterolaemia.Nat Rev Dis Primers. 2017; 3: 17093Crossref PubMed Scopus (136) Google Scholar]. FH is the most common co-dominantly inherited cause of premature ASCVD, principally coronary artery disease (CAD). Accordingly, FH is characterised clinically by a personal and family history of hypercholesterolaemia and early CAD [[3]Watts G.F. Gidding S.S. Mata P. Pang J. Sullivan D.R. Yamashita S. et al.Familial hypercholesterolaemia: evolving knowledge for designing adaptive models of care.Nat Rev Cardiol. 2020; 17: 360-377Crossref PubMed Scopus (25) Google Scholar]. The genetically mediated risk of ASCVD starts to increase from birth and extends over the lifespan. If untreated, the accumulated burden of LDL-cholesterol accelerates the onset of CAD in both men and women of every race and ethnicity [[1]Borén J. Chapman M.J. Krauss R.M. Packard C.J. Bentzon J.F. Binder C.J. et al.Low-density lipoproteins cause atherosclerotic cardiovascular disease: pathophysiological, genetic, and therapeutic insights: a consensus statement from the European Atherosclerosis Society Consensus Panel.Eur Heart J. 2020; 41: 2313-2330Crossref PubMed Scopus (163) Google Scholar,[3]Watts G.F. Gidding S.S. Mata P. Pang J. Sullivan D.R. Yamashita S. et al.Familial hypercholesterolaemia: evolving knowledge for designing adaptive models of care.Nat Rev Cardiol. 2020; 17: 360-377Crossref PubMed Scopus (25) Google Scholar]. The contemporary care of FH provides an exemplar of the value of precision medicine in the prevention of premature ASCVD in families [3Watts G.F. Gidding S.S. Mata P. Pang J. Sullivan D.R. Yamashita S. et al.Familial hypercholesterolaemia: evolving knowledge for designing adaptive models of care.Nat Rev Cardiol. 2020; 17: 360-377Crossref PubMed Scopus (25) Google Scholar, 4Defesche J.C. Gidding S.S. Harada-Shiba M. Hegele R.A. Santos R.D. Wierzbicki A.S. Familial hypercholesterolaemia.Nat Rev Dis Primers. 2017; 3: 17093Crossref PubMed Scopus (136) Google Scholar, 5Pang J. Sullivan D.R. Brett T. Kostner K.M. Hare D.L. Watts G.F. Familial hypercholesterolaemia in 2020: a leading tier 1 genomic application.Heart Lung Circ. 2020; 29: 619-633Abstract Full Text Full Text PDF PubMed Scopus (11) Google Scholar]. Recent epidemiological studies indicate that the overall prevalence of FH in the general population may be as high as 1 in 250 [6Akioyamen L.E. Genest J. Shan S.D. Reel R.L. Albaum J.M. Chu A. et al.Estimating the prevalence of heterozygous familial hypercholesterolaemia: a systematic review and meta-analysis.BMJ Open. 2017; 7: e016461Crossref PubMed Scopus (149) Google Scholar, 7Beheshti S.O. Madsen C.M. Varbo A. Nordestgaard B.G. Worldwide prevalence of familial hypercholesterolemia: meta-analyses of 11 million subjects.J Am Coll Cardiol. 2020; 75: 2553-2566Crossref PubMed Scopus (48) Google Scholar, 8Hu P. Dharmayat K.I. Stevens C.A.T. Sharabiani M.T.A. Jones R.S. Watts G.F. et al.Prevalence of familial hypercholesterolemia among the general population and patients with atherosclerotic cardiovascular disease: a systematic review and meta-analysis.Circulation. 2020; 141: 1742-1759Crossref PubMed Scopus (51) Google Scholar]. This implies that currently there are approximately 100,000 Australians living with the condition, one in five of whom are children. The prevalence of FH is especially high among people with premature ASCVD [[7]Beheshti S.O. Madsen C.M. Varbo A. Nordestgaard B.G. Worldwide prevalence of familial hypercholesterolemia: meta-analyses of 11 million subjects.J Am Coll Cardiol. 2020; 75: 2553-2566Crossref PubMed Scopus (48) Google Scholar,[8]Hu P. Dharmayat K.I. Stevens C.A.T. Sharabiani M.T.A. Jones R.S. Watts G.F. et al.Prevalence of familial hypercholesterolemia among the general population and patients with atherosclerotic cardiovascular disease: a systematic review and meta-analysis.Circulation. 2020; 141: 1742-1759Crossref PubMed Scopus (51) Google Scholar]. The Centers for Disease Control and Prevention have appropriately defined FH as a tier 1 genomic application [[5]Pang J. Sullivan D.R. Brett T. Kostner K.M. Hare D.L. Watts G.F. Familial hypercholesterolaemia in 2020: a leading tier 1 genomic application.Heart Lung Circ. 2020; 29: 619-633Abstract Full Text Full Text PDF PubMed Scopus (11) Google Scholar,[9]Centers for Disease Control and PreventionTier 1 Genomic Applications Toolkit for Public Health Departments. 2014.https://www.cdc.gov/genomics/implementation/toolkit/index.htmGoogle Scholar], meaning that there is strong evidence that it is a preventable cause of premature disease and death, with significant potential for positive impact on public health and health care savings [[7]Beheshti S.O. Madsen C.M. Varbo A. Nordestgaard B.G. Worldwide prevalence of familial hypercholesterolemia: meta-analyses of 11 million subjects.J Am Coll Cardiol. 2020; 75: 2553-2566Crossref PubMed Scopus (48) Google Scholar,[8]Hu P. Dharmayat K.I. Stevens C.A.T. Sharabiani M.T.A. Jones R.S. Watts G.F. et al.Prevalence of familial hypercholesterolemia among the general population and patients with atherosclerotic cardiovascular disease: a systematic review and meta-analysis.Circulation. 2020; 141: 1742-1759Crossref PubMed Scopus (51) Google Scholar,[10]Representatives of the Global Familial Hypercholesterolemia CommunityReducing the clinical and public health burden of familial hypercholesterolemia - a global call to action.JAMA Cardiology. 2020; 5: 217-229Crossref PubMed Scopus (58) Google Scholar]. FH is more prevalent than other tier 1 genomic applications, such as hereditary breast and ovarian cancer and Lynch syndrome (hereditary non-polyposis colorectal cancer) [[5]Pang J. Sullivan D.R. Brett T. Kostner K.M. Hare D.L. Watts G.F. Familial hypercholesterolaemia in 2020: a leading tier 1 genomic application.Heart Lung Circ. 2020; 29: 619-633Abstract Full Text Full Text PDF PubMed Scopus (11) Google Scholar,[9]Centers for Disease Control and PreventionTier 1 Genomic Applications Toolkit for Public Health Departments. 2014.https://www.cdc.gov/genomics/implementation/toolkit/index.htmGoogle Scholar]. However, in spite of the importance of FH, less than 10% of individuals (particularly children and adolescents) have been detected, and of those treated, over 80% do not attain guideline recommended LDL-cholesterol targets [[3]Watts G.F. Gidding S.S. Mata P. Pang J. Sullivan D.R. Yamashita S. et al.Familial hypercholesterolaemia: evolving knowledge for designing adaptive models of care.Nat Rev Cardiol. 2020; 17: 360-377Crossref PubMed Scopus (25) Google Scholar,[5]Pang J. Sullivan D.R. Brett T. Kostner K.M. Hare D.L. Watts G.F. Familial hypercholesterolaemia in 2020: a leading tier 1 genomic application.Heart Lung Circ. 2020; 29: 619-633Abstract Full Text Full Text PDF PubMed Scopus (11) Google Scholar]. Targeting the detection of FH as a priority in children and the young could have the greatest impact on the prevention of ASCVD [11Gidding S.S. Champagne M.A. de Ferranti S.D. Defesche J. Ito M.K. Knowles J.W. et al.The agenda for familial hypercholesterolemia - a scientific statement from the American heart association.Circulation. 2015; 132: 2167-2192Crossref PubMed Scopus (359) Google Scholar, 12Wiegman A. Gidding S.S. Watts G.F. Chapman M.J. Ginsberg H.N. Cuchel M. et al.Familial hypercholesterolaemia in children and adolescents: gaining decades of life by optimizing detection and treatment.Eur Heart J. 2015; 36: 2425-2437Crossref PubMed Scopus (396) Google Scholar, 13Wald D.S. Bestwick J.P. Morris J.K. Whyte K. Jenkins L. Wald N.J. Child–parent familial hypercholesterolemia screening in primary care.N Engl J Med. 2016; 375: 1628-1637Crossref PubMed Scopus (161) Google Scholar]. The wide gaps in the care of FH have led to the publication of several international guidelines and position statements [[11]Gidding S.S. Champagne M.A. de Ferranti S.D. Defesche J. Ito M.K. Knowles J.W. et al.The agenda for familial hypercholesterolemia - a scientific statement from the American heart association.Circulation. 2015; 132: 2167-2192Crossref PubMed Scopus (359) Google Scholar,14Nordestgaard B. Chapman M. Humphries S. Ginsberg H. Masana L. Descamps O. et al.Familial hypercholesterolaemia is underdiagnosed and undertreated in the general population: guidance for clinicians to prevent coronary heart disease (Consensus Statement of the European Atherosclerosis Society).Eur Heart J. 2013; 34: 3478-3490Crossref PubMed Scopus (1491) Google Scholar, 15Goldberg A.C. Hopkins P.N. Toth P.P. Ballantyne C.M. Rader D.J. Robinson J.G. et al.Familial hypercholesterolemia: screening, diagnosis and management of pediatric and adult patients: clinical guidance from the national lipid association expert panel on familial hypercholesterolemia.J Clin Lipidol. 2011; 5: 133-140Abstract Full Text Full Text PDF PubMed Scopus (477) Google Scholar, 16National Institute for Health and Clinical ExcellenceNICE Clinical Guideline 71: Familial hypercholesterolaemia: identification and management (Updated October 2019).2019Google Scholar, 17Watts G.F. Sullivan D.R. Poplawski N. van Bockxmeer F. Hamilton-Craig I. Clifton P.M. et al.Familial hypercholesterolaemia: a model of care for Australasia.Atheroscl Supp. 2011; 12: 221-263Abstract Full Text Full Text PDF PubMed Scopus (162) Google Scholar, 18Watts G.F. Gidding S. Wierzbicki A.S. Toth P.P. Alonso R. Brown W.V. et al.Integrated guidance on the care of familial hypercholesterolaemia from the international FH foundation.Int J Cardiol. 2014; 171: 309-325Abstract Full Text Full Text PDF PubMed Scopus (246) Google Scholar, 19Brunham L.R. Ruel I. Aljenedil S. Rivière J.-B. Baass A. Tu J.V. et al.Canadian cardiovascular society position statement on familial hypercholesterolemia: update 2018.Can J Cardiol. 2018; 34: 1553-1563Abstract Full Text Full Text PDF PubMed Scopus (45) Google Scholar]. The FH Australasia Network published one of the first models of care for FH in 2011 [[17]Watts G.F. Sullivan D.R. Poplawski N. van Bockxmeer F. Hamilton-Craig I. Clifton P.M. et al.Familial hypercholesterolaemia: a model of care for Australasia.Atheroscl Supp. 2011; 12: 221-263Abstract Full Text Full Text PDF PubMed Scopus (162) Google Scholar]. This model was conceived as an adaptive and integrated system, based on theoretical and evidence-based standards, providing the highest quality of health care services to patients and families with FH [[17]Watts G.F. Sullivan D.R. Poplawski N. van Bockxmeer F. Hamilton-Craig I. Clifton P.M. et al.Familial hypercholesterolaemia: a model of care for Australasia.Atheroscl Supp. 2011; 12: 221-263Abstract Full Text Full Text PDF PubMed Scopus (162) Google Scholar]. Such a framework allows the incorporation of evolving evidence to inform new standards of care, which form the basis for the present guidance. Our original model of care for FH [[17]Watts G.F. Sullivan D.R. Poplawski N. van Bockxmeer F. Hamilton-Craig I. Clifton P.M. et al.Familial hypercholesterolaemia: a model of care for Australasia.Atheroscl Supp. 2011; 12: 221-263Abstract Full Text Full Text PDF PubMed Scopus (162) Google Scholar] was significant in informing several international guidelines on FH [[11]Gidding S.S. Champagne M.A. de Ferranti S.D. Defesche J. Ito M.K. Knowles J.W. et al.The agenda for familial hypercholesterolemia - a scientific statement from the American heart association.Circulation. 2015; 132: 2167-2192Crossref PubMed Scopus (359) Google Scholar,[12]Wiegman A. Gidding S.S. Watts G.F. Chapman M.J. Ginsberg H.N. Cuchel M. et al.Familial hypercholesterolaemia in children and adolescents: gaining decades of life by optimizing detection and treatment.Eur Heart J. 2015; 36: 2425-2437Crossref PubMed Scopus (396) Google Scholar]. It was updated by an international group of experts [[18]Watts G.F. Gidding S. Wierzbicki A.S. Toth P.P. Alonso R. Brown W.V. et al.Integrated guidance on the care of familial hypercholesterolaemia from the international FH foundation.Int J Cardiol. 2014; 171: 309-325Abstract Full Text Full Text PDF PubMed Scopus (246) Google Scholar] and informed a scientific statement from the American Heart Association [[11]Gidding S.S. Champagne M.A. de Ferranti S.D. Defesche J. Ito M.K. Knowles J.W. et al.The agenda for familial hypercholesterolemia - a scientific statement from the American heart association.Circulation. 2015; 132: 2167-2192Crossref PubMed Scopus (359) Google Scholar]. The 2014 integrated guidance [[18]Watts G.F. Gidding S. Wierzbicki A.S. Toth P.P. Alonso R. Brown W.V. et al.Integrated guidance on the care of familial hypercholesterolaemia from the international FH foundation.Int J Cardiol. 2014; 171: 309-325Abstract Full Text Full Text PDF PubMed Scopus (246) Google Scholar] was assessed using the Appraisal of Guidelines for Research & Evaluation Instrument (AGREE-II) criteria by an independent group of international investigators and ranked as the leading contemporary guidance on FH [[20]Migliara G. Baccolini V. Rosso A. D’Andrea E. Massimi A. Villari P. et al.Familial hypercholesterolemia: a systematic review of guidelines on genetic testing and patient management.Front Public Health. 2017; 5: 252Crossref PubMed Scopus (20) Google Scholar]. Since publication of the aforementioned guidelines, there has been an exponential growth in published works on several aspects of FH [[3]Watts G.F. Gidding S.S. Mata P. Pang J. Sullivan D.R. Yamashita S. et al.Familial hypercholesterolaemia: evolving knowledge for designing adaptive models of care.Nat Rev Cardiol. 2020; 17: 360-377Crossref PubMed Scopus (25) Google Scholar]. This includes the following: new knowledge on population prevalence [6Akioyamen L.E. Genest J. Shan S.D. Reel R.L. Albaum J.M. Chu A. et al.Estimating the prevalence of heterozygous familial hypercholesterolaemia: a systematic review and meta-analysis.BMJ Open. 2017; 7: e016461Crossref PubMed Scopus (149) Google Scholar, 7Beheshti S.O. Madsen C.M. Varbo A. Nordestgaard B.G. Worldwide prevalence of familial hypercholesterolemia: meta-analyses of 11 million subjects.J Am Coll Cardiol. 2020; 75: 2553-2566Crossref PubMed Scopus (48) Google Scholar, 8Hu P. Dharmayat K.I. Stevens C.A.T. Sharabiani M.T.A. Jones R.S. Watts G.F. et al.Prevalence of familial hypercholesterolemia among the general population and patients with atherosclerotic cardiovascular disease: a systematic review and meta-analysis.Circulation. 2020; 141: 1742-1759Crossref PubMed Scopus (51) Google Scholar]; screening methods [[3]Watts G.F. Gidding S.S. Mata P. Pang J. Sullivan D.R. Yamashita S. et al.Familial hypercholesterolaemia: evolving knowledge for designing adaptive models of care.Nat Rev Cardiol. 2020; 17: 360-377Crossref PubMed Scopus (25) Google Scholar,[5]Pang J. Sullivan D.R. Brett T. Kostner K.M. Hare D.L. Watts G.F. Familial hypercholesterolaemia in 2020: a leading tier 1 genomic application.Heart Lung Circ. 2020; 29: 619-633Abstract Full Text Full Text PDF PubMed Scopus (11) Google Scholar,[13]Wald D.S. Bestwick J.P. Morris J.K. Whyte K. Jenkins L. Wald N.J. Child–parent familial hypercholesterolemia screening in primary care.N Engl J Med. 2016; 375: 1628-1637Crossref PubMed Scopus (161) Google Scholar,[21]Knowles J.W. Rader D.J. Khoury M.J. Cascade screening for familial hypercholesterolemia and the use of genetic testing.JAMA. 2017; 318: 381-382Crossref PubMed Scopus (79) Google Scholar] including use of non-fasting samples [[22]Nordestgaard B.G. Langsted A. Mora S. Kolovou G. Baum H. Bruckert E. et al.Fasting is not routinely required for determination of a lipid profile: clinical and laboratory implications including flagging at desirable concentration cut-points—a joint consensus statement from the European Atherosclerosis Society and European Federation of Clinical Chemistry and Laboratory Medicine.Eur Heart J. 2016; 37: 1944-1958Crossref PubMed Scopus (293) Google Scholar]; the role of primary care in detection and treatment [[23]Brett T. Qureshi N. Gidding S. Watts G.F. Screening for familial hypercholesterolaemia in primary care: time for general practice to play its part.Atherosclerosis. 2018; 277: 399-406Abstract Full Text Full Text PDF PubMed Scopus (18) Google Scholar]; new diagnostic gene technologies and genetic testing protocols [[24]Sturm A.C. Knowles J.W. Gidding S.S. Ahmad Z.S. Ahmed C.D. Ballantyne C.M. et al.Clinical genetic testing for familial hypercholesterolemia: JACC scientific expert panel.J Am Coll Cardiol. 2018; 72: 662-680Crossref PubMed Scopus (136) Google Scholar]; methods for risk re-stratification, including estimation of lipoprotein(a) [25Pérez de Isla L. Alonso R. Mata N. Fernández-Pérez C. Muñiz O. Díaz-Díaz J.L. et al.Predicting cardiovascular events in familial hypercholesterolemia: the SAFEHEART Registry.Circulation. 2017; 135: 2133-2144Crossref PubMed Scopus (148) Google Scholar, 26Langsted A. Kamstrup P.R. Benn M. Tybjærg-Hansen A. Nordestgaard B.G. High lipoprotein(a) as a possible cause of clinical familial hypercholesterolaemia: a prospective cohort study.Lancet Diabetes Endocrinol. 2016; 4: 577-587Abstract Full Text Full Text PDF PubMed Scopus (131) Google Scholar, 27Ellis K.L. Pérez de Isla L. Alonso R. Fuentes F. Watts G.F. Mata P. Value of measuring lipoprotein(a) during cascade testing for familial hypercholesterolemia.J Am Coll Cardiol. 2019; 73: 1029-1039Crossref PubMed Scopus (36) Google Scholar, 28Wilson D.P. Jacobson T.A. Jones P.H. Koschinsky M.L. McNeal C.J. Nordestgaard B.G. et al.Use of Lipoprotein(a) in clinical practice: a biomarker whose time has come. A scientific statement from the National Lipid Association.J Clin Lipidol. 2019; 13: 374-392Abstract Full Text Full Text PDF PubMed Scopus (86) Google Scholar] and non-invasive cardiovascular imaging [[3]Watts G.F. Gidding S.S. Mata P. Pang J. Sullivan D.R. Yamashita S. et al.Familial hypercholesterolaemia: evolving knowledge for designing adaptive models of care.Nat Rev Cardiol. 2020; 17: 360-377Crossref PubMed Scopus (25) Google Scholar,[29]Pérez de Isla L. Alonso R. Muñiz-Grijalvo O. Díaz-Díaz J.L. Zambón D. Miramontes J.P. et al.SAFEHEART investigatorsCoronary computed tomographic angiography findings and their therapeutic implications in asymptomatic patients with familial hypercholesterolemia. Lessons from the SAFEHEART study.J Clin Lipidol. 2018; 12: 948-957Abstract Full Text Full Text PDF PubMed Scopus (29) Google Scholar,[30]Miname M.H. Bittencourt M.S. Moraes S.R. Alves R.I.M. Silva P.R.S. Jannes C.E. et al.Coronary artery calcium and cardiovascular events in patients with familial hypercholesterolemia receiving standard lipid-lowering therapy.JACC Cardiovasc Imaging. 2019; 12: 1797-1804Crossref PubMed Scopus (52) Google Scholar]; screening and treatment of children [[12]Wiegman A. Gidding S.S. Watts G.F. Chapman M.J. Ginsberg H.N. Cuchel M. et al.Familial hypercholesterolaemia in children and adolescents: gaining decades of life by optimizing detection and treatment.Eur Heart J. 2015; 36: 2425-2437Crossref PubMed Scopus (396) Google Scholar,[31]de Ferranti S.D. Steinberger J. Ameduri R. Baker A. Gooding H. Kelly A.S. et al.Cardiovascular risk reduction in high-risk pediatric patients: a scientific statement from the American heart association.Circulation. 2019; 139: e603-e634Crossref PubMed Scopus (68) Google Scholar,[32]Luirink I. Wiegman A. Kusters D. Hof M. Groothoff J. de Groot E. et al.20-Year follow-up of statins in children with familial hypercholesterolaemia.N Engl J Med. 2019; 381: 1547-1556Crossref PubMed Scopus (130) Google Scholar]; the safety and tolerability of statins [[33]Kajinami K. Tsukamoto K. Koba S. Inoue I. Yamakawa M. Suzuki S. et al.Statin intolerance clinical guide 2018.J Atheroscler Thromb. 2020; 26: 375-396Crossref Scopus (4) Google Scholar,[34]Lotta L.A. Sharp S.J. Burgess S. Perry J.R. Stewart I.D. Willems S.M. et al.Association between low-density lipoprotein cholesterol–lowering genetic variants and risk of type 2 diabetes: a meta-analysis.JAMA. 2016; 316: 1383-1391Crossref PubMed Scopus (201) Google Scholar]; the efficacy and application of new therapies (eg. proprotein convertase subtilisin/kexin type 9 inhibitors); management of homozygous FH including use of lipoprotein apheresis [35Cuchel M. Bruckert E. Ginsberg H.N. Raal F.J. Santos R.D. Hegele R.A. et al.Homozygous familial hypercholesterolaemia: new insights and guidance for clinicians to improve detection and clinical management. A position paper from the Consensus Panel on Familial Hypercholesterolaemia of the European Atherosclerosis Society.Eur Heart J. 2014; 35: 2146-2157Crossref PubMed Scopus (583) Google Scholar, 36Stefanutti C. Julius U. Watts G.F. Harada-Shiba M. Cossu M. Schettler V.J. et al.Toward an international consensus—integrating lipoprotein apheresis and new lipid-lowering drugs.J Clin Lipidol. 2017; 11: 858-871Abstract Full Text Full Text PDF PubMed Scopus (66) Google Scholar, 37France M. Rees A. Datta D. Thompson G. Capps N. Ferns G. et al.HEART UK statement on the management of homozygous familial hypercholesterolaemia in the United Kingdom.Atherosclerosis. 2016; 255: 128-139Abstract Full Text Full Text PDF PubMed Scopus (52) Google Scholar]; comprehensive health economic evaluations [[38]Ademi Z. Watts G.F. Pang J. Sijbrands E.J.G. van Bockxmeer F.M. O'Leary P. et al.Cascade screening based on genetic testing is cost-effective: evidence for the implementation of models of care for familial hypercholesterolaemia.J Clin Lipidol. 2014; 8: 390-400Abstract Full Text Full Text PDF PubMed Scopus (110) Google Scholar,[39]Kerr M. Pears R. Miedzybrodzka Z. Haralambos K. Cather M. Watson M. et al.Cost effectiveness of cascade testing for familial hypercholesterolaemia, based on data from familial hypercholesterolaemia services in the UK.Eur Heart J. 2017; 38: 1832-1839Crossref PubMed Scopus (55) Google Scholar]; organisation of services [[3]Watts G.F. Gidding S.S. Mata P. Pang J. Sullivan D.R. Yamashita S. et al.Familial hypercholesterolaemia: evolving knowledge for designing adaptive models of care.Nat Rev Cardiol. 2020; 17: 360-377Crossref PubMed Scopus (25) Google Scholar], clinical registries [40Vallejo-Vaz A.J. Akram A. Kondapally Seshasai S.R. Cole D. Watts G.F. Hovingh G.K. et al.Pooling and expanding registries of familial hypercholesterolaemia to assess gaps in care and improve disease management and outcomes: rationale and design of the global EAS Familial Hypercholesterolaemia Studies Collaboration.Atheroscler Suppl. 2016; 22: 1-32Abstract Full Text Full Text PDF PubMed Scopus (67) Google Scholar, 41deGoma E.M. Ahmad Z.S. O'Brien E.C. Kindt I. Shrader P. Newman C.B. et al.Treatment gaps in adults with heterozygous familial hypercholesterolemia in the United States: data from the CASCADE-FH Registry.Circ Cardiovasc Genet. 2016; 9: 240-249Crossref PubMed Scopus (113) Google Scholar, 42Bellgard M.I. Walker C.E. Napier K.R. Lamont L. Hunter A.A. Render L. et al.Design of the familial hypercholesterolaemia Australasia Network Registry: Creating Opportunities for Greater International Collaboration.J Atheroscler Thromb. 2017; 24: 1075-1084Crossref PubMed Scopus (23) Google Scholar]; role of advocacy and patient support groups [[43]Payne J. Williams S. Maxwell D. Pariente M.T. Olivares R.A. Janssen ten Haaf M. et al.Familial hypercholesterolaemia patient support groups and advocacy: a multinational perspective.Atherosclerosis. 2018; 277: 377-382Abstract Full Text Full Text PDF PubMed Scopus (10) Google Scholar]; and, definitions of research programs [[3]Watts G.F. Gidding S.S. Mata P. Pang J. Sullivan D.R. Yamashita S. et al.Familial hypercholesterolaemia: evolving knowledge for designing adaptive models of care.Nat Rev Cardiol. 2020; 17: 360-377Crossref PubMed Scopus (25) Google Scholar,[11]Gidding S.S. Champagne M.A. de Ferranti S.D. Defesche J. Ito M.K. Knowles J.W. et al.The agenda for familial hypercholesterolemia - a scientific statement from the American heart association.Circulation. 2015; 132: 2167-2192Crossref PubMed Scopus (359) Google Scholar,[44]Martin A.C. Gidding S.S. Wiegman A. Watts G.F. Known and unknowns in the care of paediatric familial hypercholesterolaemia.J Lipid Res. 2017; 58: 1765-1776Abstract Full Text Full Text PDF PubMed Scopus (21) Google Scholar]. This evolving knowledge was reviewed systematically by representatives of the Writing Committee of this guidance in co" @default.
• W3089256847 created "2020-10-01" @default.
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