Integrated guidance on the care of familial hypercholesterolemia from the International FH Foundation

Journal of Clinical Lipidology

Volumn 8, Issue 2, 2014, Pages 148-172

  Watts, Gerald F ^a   Gidding, Samuel ^b,c   Wierzbicki, Anthony S ^d   Toth, Peter P ^e,f,g   Alonso, Rodrigo ^h   Brown, W Virgil ⁱ   Bruckert, Eric ^j   Defesche, Joep ^k   Lin, Khoo Kah ^l   Livingston, Michael ^m   Mata, Pedro ⁿ   Parhofer, Klaus G ^o   Raal, Frederick J ^p   Santos, Raul D ^q   Sijbrands, Eric J G ^r   Simpson, William G ^s   Sullivan, David R ^t   Susekov, Andrey V ^u   Tomlinson, Brian ^v   Wiegman, Albert ^k   Yamashita, Shizuya ^w   Kastelein, John J P ^k   more..

^a UNIVERSITY OF WESTERN AUSTRALIA   (Australia)

^b NEMOURS ALFRED I DUPONT HOSPITAL FOR CHILDREN   (United States)

^c THOMAS JEFFERSON UNIVERSITY   (United States)

^d GUY'S AND ST THOMAS' NHS FOUNDATION TRUST   (United Kingdom)

^e CGH MEDICAL CENTER   (United States)

^f UNIVERSITY OF ILLINOIS   (United States)

^g MICHIGAN STATE UNIVERSITY   (United States)

^h Fundación Jiménez Díaz   (Spain)

ⁱ EMORY UNIVERSITY SCHOOL OF MEDICINE   (United States)

^j PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^k UNIVERSITY OF AMSTERDAM   (Netherlands)

^l Heart Foundation Malaysia   (Malaysia)

^m International FH Foundation   (United Kingdom)

ⁿ Medicina Interna   (Spain)

^o UNIVERSITY OF MUNICH   (Germany)

^p UNIVERSITY OF THE WITWATERSRAND   (South Africa)

^q UNIVERSITY OF SÃO PAULO   (Brazil)

^r ERASMUS UNIVERSITY ROTTERDAM   (Netherlands)

^s UNIVERSITY OF ABERDEEN   (United Kingdom)

^t ROYAL PRINCE ALFRED HOSPITAL   (Australia)

^u N N BLOKHIN NATIONAL MEDICAL RESEARCH CENTER OF ONCOLOGY   (Russian Federation)

^v CHINESE UNIVERSITY OF HONG KONG   (Hong Kong)

^w OSAKA UNIVERSITY   (Japan)

more..

Author keywords

Adults; Assessment; Children; Diagnosis; Familial hypercholesterolemia; International guidance; Models of care; Screening; Treatment

Indexed keywords

AMINOTRANSFERASE; BILE ACID SEQUESTRANT; CREATINE KINASE; CREATININE; DNA; EZETIMIBE; FENOFIBRATE; GLUCOSE; HIGH DENSITY LIPOPROTEIN CHOLESTEROL; HYDROXYMETHYLGLUTARYL COENZYME A REDUCTASE INHIBITOR; HYPOCHOLESTEROLEMIC AGENT; LOMITAPIDE; LOW DENSITY LIPOPROTEIN CHOLESTEROL; MIPOMERSEN; OMEGA 3 FATTY ACID;

ALCOHOL CONSUMPTION; AMINOTRANSFERASE BLOOD LEVEL; ANGIOCARDIOGRAPHY; APHERESIS; CARDIOVASCULAR DISEASE; CARDIOVASCULAR RISK; CAROTID ARTERY; CHOLESTEROL BLOOD LEVEL; CHOLESTEROL METABOLISM; COMPUTED TOMOGRAPHIC ANGIOGRAPHY; CONTRACEPTION; CORONARY ARTERY CALCIFICATION; CORONARY RISK; CREATINE KINASE BLOOD LEVEL; CREATININE BLOOD LEVEL; DNA DETERMINATION; ECHOGRAPHY; EXON; FAMILIAL HYPERCHOLESTEROLEMIA; FAMILY HISTORY; FIRST DEGREE RELATIVE; GENE MUTATION; GENE SEQUENCE; GENETIC SCREENING; GENETIC VARIABILITY; GLUCOSE BLOOD LEVEL; HEALTH CARE ORGANIZATION; HOMOZYGOTE; HUMAN; HYPERCHOLESTEROLEMIA; ISCHEMIC HEART DISEASE; LIFESTYLE MODIFICATION; LIVER TRANSPLANTATION; MASS SCREENING; MEDICAL HISTORY; MEDICAL SPECIALIST; MENOPAUSE; MENTAL STRESS; PASSIVE SMOKING; PHENOTYPE; PRACTICE GUIDELINE; PREGNANCY; PRIORITY JOURNAL; REFERENCE VALUE; REVIEW; RISK ASSESSMENT; SECOND DEGREE RELATIVE; THIRD DEGREE RELATIVE;

ADULTS; ASSESSMENT; CHILDREN; DIAGNOSIS; FAMILIAL HYPERCHOLESTEROLEMIA; INTERNATIONAL GUIDANCE; MODELS OF CARE; SCREENING; TREATMENT;

ADULT; ANTICHOLESTEREMIC AGENTS; CHILD; CHOLESTEROL, LDL; COST-BENEFIT ANALYSIS; GENETIC TESTING; GUIDELINES AS TOPIC; HUMANS; HYPERLIPOPROTEINEMIA TYPE II; LIPOPROTEINS, LDL; RISK FACTORS;

EID: 84896369977     PISSN: 19332874     EISSN: 18764789     Source Type: Journal    
DOI: 10.1016/j.jacl.2014.01.002     Document Type: Review

References (211)

1. M.A. Austin, C.M. Hutter, R.L. Zimmern, and S.E. Humphries Genetic causes of monogenic heterozygous familial hypercholesterolaemia: A HuGE prevalence review Am J Epidemiol 160 2004 407 420
2. A.K. Soutar, and R.P. Naoumova Mechanisms of disease: Genetic causes of familial hypercholesterolemia Nat Clin Pract Cardiovasc Med 4 2007 214 225
3. D. Marks, M. Thorogood, H.A.W. Neil, and S.E. Humphries A review on the diagnosis, natural history, and treatment of familial hypercholesterolaemia Atherosclerosis 168 2003 1 14
4. World Health Organization Familial Hypercholesterolaemia: Report of a WHO Consultation 1997 World Health Organization Paris
5. M.A.W. Umans-Eckenhausen, J.C. Defesche, E.J.G. Sijbrands, R.L.J.M. Scheerder, and J.J.P. Kastelein Review of first 5 years of screening for familial hypercholesterolaemia in the Netherlands Lancet 357 2001 165 168
6. National Institute for Health and Clinical Excellence, The National Collaborating Centre for Primary Care NICE Clinical Guideline 71: Identification and Management of Familial Hypercholesterolaemia 2008 National Institute for Health and Clinical Excellence London
7. F. Civeira Guidelines for the diagnosis and management of heterozygous familial hypercholesterolaemia Atherosclerosis 173 2004 55 68
8. G.F. Watts, D.R. Sullivan, and N. Poplawski et al. Familial hypercholesterolaemia: A model of care for Australasia Atherosclerosis Supplements 12 2011 221 263
9. A.C. Goldberg, P.N. Hopkins, and P.P. Toth 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 5 2011 133 140
10. National Cholesterol Education Program (NCEP) Third Report of the National Cholesterol Education Program (NCEP) Expert Panel on Detection, Evaluation, and Treatment of High Blood Cholesterol in Adults (Adult Treatment Panel III) Final Report Circulation 106 2002 3143 3421
11. J. Perk, G. De Backer, and H. Gohlke et al. European Guidelines on cardiovascular disease prevention in clinical practice (version 2012) The Fifth Joint Task Force of the European Society of Cardiology and Other Societies on Cardiovascular Disease Prevention in Clinical Practice (constituted by representatives of nine societies and by invited experts) Developed with the special contribution of the European Association for Cardiovascular Prevention & Rehabilitation (EACPR) Eur Heart J 33 2012 1635 1701
12. J.D. Brunzell, M. Davidson, and C.D. Furberg et al. Lipoprotein management in patients with cardiometabolic risk Diabetes Care 31 2008 811 822
13. Z. Reiner, A.L. Catapano, and G. De Backer et al. ESC/EAS Guidelines for the management of dyslipidaemias The Task Force for the management of dyslipidaemias of the European Society of Cardiology (ESC) and the European Atherosclerosis Society (EAS) Eur Heart J 32 2011 1769 1818
14. Expert Dyslipidemia Panel of the International Atherosclerosis Society An International Atherosclerosis Society Position Paper: Global recommendations for the management of dyslipidemia - Full report J Clin Lipidol 8 2014 29 60
15. B.G. Nordestgaard, M.J. Chapman, and S.E. Humphries 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 34 2013 3478 3490
16. R.D. Santos, A.C.M. Gagliardi, and H.T. Xavier et al. Brazilian Guidelines to Familial Hypercholesterolaemia (FH) Arq Bras Cardiol 99 2012 1 28
17. H.A.W. Neil, T. Hammond, R. Huxley, D.R. Matthews, and S.E. Humphries Extent of underdiagnosis of familial hypercholesterolaemia in routine practice: Prospective registry study Br Med J 321 2000 148
18. A.H. Pijlman, R. Huijgen, and S.N. Verhagen et al. Evaluation of cholesterol lowering treatment of patients with familial hypercholesterolemia: A large cross-sectional study in the Netherlands Atherosclerosis 209 2010 189 194
19. O.S. Descamps, S. Tenoutasse, and X. Stephenne et al. Management of familial hypercholesterolemia in children and young adults: Consensus paper developed by a panel of lipidologists, cardiologists, paediatricians, nutritionists, gastroenterologists, general practitioners and a patient organization Atherosclerosis 218 2011 272 280
20. S.R. Daniels, S.S. Gidding, and S.D. de Ferranti Pediatric aspects of familial hypercholesterolemias: Recommendations from the National Lipid Association Expert Panel on Familial Hypercholesterolemia J Clin Lipidol 5 2011 S30 S37
21. D.M. Kusters, C. de Beaufort, and K. Widhalm et al. Paediatric screening for hypercholesterolaemia in Europe Arch Dis Child 97 2012 272 276
22. M. Harada-Shiba, H. Arai, and S. Oikawa et al. Guidelines for the management of familial hypercholesterolemia J Atheroscler Thromb 19 2012 1043 1060
23. World Health Organization Building Blocks for Action Innovative Care for Chronic Conditions: Global Report 2002 WHO Geneva
24. J.K. Morris, D.S. Wald, and N.J. Wald The evaluation of cascade testing for familial hypercholesterolemia Am J Med Genet A 158 2011 78 84
25. T.R. Bates, J.R. Burnett, F.M. van Bockxmeer, S. Hamilton, L. Arnolda, and G.F. Watts Detection of familial hypercholesterolaemia: A major treatment gap in preventative cardiology Heart Lung Circ 17 2008 411 413
26. Scientific Steering Committee on behalf of the Simon Broome Register Group Risk of fatal coronary heart disease in familial hypercholesterolaemia Br Med J 303 1991 893 896
27. A. Kirke, G.F. Watts, and J. Emery Detecting familial hypercholesterolaemia in general practice Aust Fam Physician 41 2012 965 968
28. N. Qureshi, S.E. Humphries, M. Seed, P. Rowlands, R. Minhas NICE Guideline Development Group Identification and management of familial hypercholesterolaemia: What does it mean to primary care? Br J Gen Pract 59 2009 773 778
29. S.R. Tiyyagura, and D.A. Smith Standard lipid profile Clin Lab Med 26 2006 707 732
30. D.A. Bell, A.J. Hooper, and R. Bender et al. Opportunistic screening for familial hypercholesterolaemia via a community laboratory Ann Clin Biochem 49 2012 534 537
31. B.N. Datta, I.F. McDowell, and A. Rees Integrating provision of specialist lipid services with cascade testing for familial hypercholesterolaemia Curr Opin Lipidol 21 2010 366 371
32. F.J. Raal, and R.D. Santos Homozygous familial hypercholesterolemia: Current perspectives on diagnosis and treatment Atherosclerosis 223 2012 262 268
33. HEART UK. FH Guideline Implementation Team Toolkit. 2010. Available at: Http://heartuk.org.uk/FHToolkit/. Accessed February 3, 2014.
34. World Health Organization Familial Hypercholesterolaemia. Report of a Second WHO Consultation 1999 World Health Organization Geneva
35. R.R. Williams, S.C. Hunt, and M.C. Schumacher et al. Diagnosing heterozygous familial hypercholesterolemia using new practical criteria validated by molecular genetics Am J Cardiol 72 1993 171 176
36. C.K. Chow, S. Islam, and L. Bautista et al. Parental history and myocardial infarction risk across the world: The INTERHEART study J Am Coll Cardiol 57 2011 619 627
37. S.K. Ritchie, E.C.-S. Murphy, and C. Ice et al. Universal versus targeted blood cholesterol screening among youth: The CARDIAC project Pediatrics 126 2010 260 265
38. D.-M. Niu, K.-W. Chong, and J.-H. Hsu et al. Clinical observations, molecular genetic analysis, and treatment of sitosterolemia in infants and children J Inherit Metab Dis 33 2010 437 443
39. M.J. Veerkamp, J. de Graaf, J.C.M. Hendriks, P.N.M. Demacker, and A.F.H. Stalenhoef Nomogram to diagnose familial combined hyperlipidemia on the basis of results of a 5-year follow-up study Circulation 109 2004 2980 2985
40. R. Carmena, M. Roy, G. Roederer, A. Minnich, and J. Davignon Coexisting dysbetalipoproteinemia and familial hypercholesterolemia: Clinical and laboratory observations Atherosclerosis 148 2000 113 124
41. E.M.M. Ooi, P.H.R. Barrett, and G.F. Watts The extended abnormalities in lipoprotein metabolism in familial hypercholesterolemia: Developing a new framework for future therapies Int J Cardiol 168 2013 1811 1818
42. P.H. Jones, M.H. Davidson, and E.A. Stein et al. Comparison of the efficacy and safety of rosuvastatin versus atorvastatin, simvastatin, and pravastatin across doses (STELLAR Trial) Am J Cardiol 92 2003 152 160
43. A.C.M. Jansen, E.S. van Aalst-Cohen, and M.W. Tanck et al. The contribution of classical risk factors to cardiovascular disease in familial hypercholesterolaemia: Data in 2400 patients J Intern Med 256 2004 482 490
44. D.M. Oosterveer, J. Versmissen, A.F. Schinkel, J.G. Langendonk, M. Mulder, and E.J. Sijbrands Clinical and genetic factors influencing cardiovascular risk in patients with familial hypercholesterolemia Clin Lipidol 5 2010 189 197
45. L.A. Neefjes, G.-J.R. Ten Kate, and A. Rossi et al. CT coronary plaque burden in asymptomatic patients with familial hypercholesterolaemia Heart 97 2011 1151 1157
46. L. Claassen, L. Henneman, I. Kindt, T.M. Marteau, and D.R.M. Timmermans Perceived risk and representations of cardiovascular disease and preventive behaviour in people diagnosed with familial hypercholesterolemia J Health Psychol 15 2010 33 43
47. T. Marteau, V. Senior, and S.E. Humphries et al. Psychological impact of genetic testing for familial hypercholesterolemia within a previously aware population: A randomized controlled trial Am J Med Genet 128A 2004 285 293
48. M. Junyent, R. Gilabert, and E. Jarauta et al. Impact of low-density lipoprotein receptor mutational class on carotid atherosclerosis in patients with familial hypercholesterolemia Atherosclerosis 208 2010 437 441
49. B.G. Nordestgaard, M.J. Chapman, and K. Ray et al. Lipoprotein(a) as a cardiovascular risk factor: Current status Eur Heart J 31 2010 2844 2853
50. G. Thanassoulis, C.Y. Campbell, and D.S. Owens et al. Genetic associations with valvular calcification and aortic stenosis N Engl J Med 368 2012 503 512
51. N.J. Stone, J. Robinson, and A.H. Lichtenstein et al. 2013 ACC/AHA Guideline on the Treatment of Blood Cholesterol to Reduce Atherosclerotic Cardiovascular Risk in Adults: A report of the American College of Cardiology/American Heart Association Task Force on Practice Guidelines J Am Coll Cardiol 2013 http://dx.doi.org/10.1016/j.jacc.2013.11.002
52. D.M. Lloyd-Jones Cardiovascular risk prediction: Basic concepts, current status, and future directions Circulation 121 2010 1768 1777
53. A. Wiegman, E. de Groot, and B.A. Hutten et al. Arterial intima-media thickness in children heterozygous for familial hypercholesterolaemia Lancet 363 2004 369 370
54. A. Vuorio, K.F. Doherty, S.E. Humphries, J. Kuoppala, and P.T. Kovanen Statin treatment of children with familial hypercholesterolemia - trying to balance incomplete evidence of long-term safety and clinical accountability: Are we approaching a consensus? Atherosclerosis 226 2013 315 320
55. P. Greenland, J.S. Alpert, and G.A. Beller et al. 2010 ACCF/AHA Guideline for Assessment of Cardiovascular Risk in Asymptomatic Adults: A report of the American College of Cardiology Foundation/American Heart Association Task Force on Practice Guidelines Circulation 122 2010 2748 2764
56. H.M. Den Ruijter, S.A.E. Peters, and T.J. Anderson et al. Common carotid intima-media thickness measurements in cardiovascular risk prediction: A meta-analysiscarotid intima-media thickness and risk prediction J Am Med Assoc 308 2012 796 803
57. T.J. Smilde, S. van Wissen, H. Wollersheim, M.D. Trip, J.J. Kastelein, and A.F. Stalenhoef Effect of aggressive versus conventional lipid lowering on atherosclerosis progression in familial hypercholesterolaemia (ASAP): A prospective, randomised, double-blind trial Lancet 357 2001 577 581
58. R.E.J. Clarke, S.T. Padayachee, and R. Preston et al. Effectiveness of alternative strategies to define index case phenotypes to aid genetic diagnosis of familial hypercholesterolaemia Heart 99 2013 175 180
59. I. Cho, H.-J. Chang, and J.M. Sung et al. Coronary Computed Tomographic Angiography and Risk of All-Cause Mortality and Nonfatal Myocardial Infarction in Subjects Without Chest Pain Syndrome From the CONFIRM Registry (Coronary CT Angiography Evaluation for Clinical Outcomes: An International Multicenter Registry) Clinical Perspective Circulation 126 2012 304 313
60. T.J. Anderson, J. Grégoire, and R.A. Hegele et al. 2012 Update of the Canadian Cardiovascular Society Guidelines for the Diagnosis and Treatment of Dyslipidemia for the Prevention of Cardiovascular Disease in the Adult Can J Cardiol 29 2013 151 167
61. R. Huijgen, M.N. Vissers, and I. Kindt et al. Assessment of carotid atherosclerosis in normocholesterolemic individuals with proven mutations in the low-density lipoprotein receptor or apolipoprotein B genes Circ Cardiovasc Genet 4 2011 413 417
62. E.D. Michos, K. Nasir, and J.A. Rumberger et al. Relation of family history of premature coronary heart disease and metabolic risk factors to risk of coronary arterial calcium in asymptomatic subjects Am J Cardiol 95 2005 655 657
63. L. Engelen, I. Ferreira, and C.D. Stehouwer et al. Reference intervals for common carotid intima-media thickness measured with echotracking: Relation with risk factors Eur Heart J 34 2013 2368 2880
64. E. Sijbrands, R. Westendorp, and J. Defesche et al. Mortality over two centuries in large pedigree with familial hypercholesterolaemia: Family tree mortality study Br Med J 322 2001 1019 1023
65. G.R. Thompson, A. Catapano, and S. Saheb et al. Severe hypercholesterolaemia: Therapeutic goals and eligibility criteria for LDL apheresis in Europe Curr Opin Lipidol 21 2010 492 498
66. A.C. Martin, J. Coakley, D.A. Forbes, D.R. Sullivan, and G.F. Watts Familial hypercholesterolaemia in children and adolescents: A new paediatric model of care J Paediatr Child Health 49 2013 E263 E272
67. B.W. McCrindle Familial hypercholesterolemia in children and adolescents Curr Opin Lipidol 23 2012 525 531
68. A. Wiegman, J. Rodenburg, and S. de Jongh et al. Family history and cardiovascular risk in familial hypercholesterolemia data in more than 1000 children Circulation 107 2003 1473 1478
69. A. van der Graaf, H.J. Avis, and D.M. Kusters et al. Molecular basis of autosomal dominant hypercholesterolemia: Assessment in a large cohort of hypercholesterolemic children Circulation 123 2011 1167 1173
70. G. Langslet, and L. Ose Screening methods in the diagnosis and assessment of children and adolescents with familial hypercholesterolemia Expert Rev Cardiovasc Ther 11 2013 1061 1066
71. B. Starr, G. Hadfield, and B.A. Hutton et al. Development of sensitive and specific age-and gender-specific low-density lipoprotein cholesterol cutoffs for diagnosis of first-degree relatives with familial hypercholesterolaemia in cascade testing Clin Chem Lab Med 46 2008 791 803
72. D.S. Wald, J.P. Bestwick, and N.J. Wald Child-parent screening for familial hypercholesterolaemia: Screening strategy based on a meta-analysis Br Med J 335 2007 599 603
73. D.S. Freedman, Y.C. Wang, W.H. Dietz, J.-H. Xu, S.R. Srinivasan, and G.S. Berenson Changes and Variability in High Levels of Low-Density Lipoprotein Cholesterol Among Children Pediatrics 126 2010 266 273
74. R.-E.W. Kavey, V. Allada, and S.R. Daniels et al. Cardiovascular Risk Reduction in High-Risk Pediatric Patients: A Scientific Statement From the American Heart Association Expert Panel on Population and Prevention Science; the Councils on Cardiovascular Disease in the Young, Epidemiology and Prevention, Nutrition, Physical Activity and Metabolism, High Blood Pressure Research, Cardiovascular Nursing, and the Kidney in Heart Disease; and the Interdisciplinary Working Group on Quality of Care and Outcomes Research Circulation 114 2006 2710 2738
75. S.S. Gidding, L.C. Bookstein, and E.V. Chomka Usefulness of electron beam tomography in adolescents and young adults with heterozygous familial hypercholesterolemia Circulation 98 1998 2580 2583
76. E.M. Urbina, R.V. Williams, and B.S. Alpert et al. Noninvasive Assessment of Subclinical Atherosclerosis in Children and Adolescents: Recommendations for Standard Assessment for Clinical Research: A Scientific Statement From the American Heart Association Hypertension 54 2009 919 950
77. D. Marks, D. Wonderling, M. Thorogood, H. Lambert, S.E. Humphries, and H.A.W. Neil Cost effectiveness analysis of different approaches of screening for familial hypercholesterolaemia Br Med J 324 2002 1303 1309
78. Z. Ademi, G.F. Watts, A. Juniper, and D. Liew A systematic review of economic evaluations of the detection and treatment of familial hypercholesterolemia Int J Cardiol 167 2013 2391 2396
79. S.E. Humphries, G. Norbury, S. Leigh, S.G. Hadfield, and D. Nair What is the clinical utility of DNA testing in patients with familial hypercholesterolaemia? Curr Opin Lipidol 19 2008 362 368
80. G.K. Suthers, J. Armstrong, J. McCormack, and D. Trott Letting the family know: Balancing ethics and effectiveness when notifying relatives about genetic testing for a familial disorder J Med Genet 43 2006 665 670
81. S.G. Hadfield, S. Horara, and B.J. Starr et al. Family tracing to identify patients with familial hypercholesterolaemia: The second audit of the Department of Health Familial Hypercholesterolaemia Cascade Testing Project Ann Clin Biochem 46 2009 24 32
82. H.A.W. Neil, T. Hammond, D. Mant, and S.E. Humphries Effect of statin treatment for familial hypercholesterolaemia on life assurance: Results of consecutive surveys in 1990 and 2002 Br Med J 328 2004 500 501
83. G. Hollands, D. Armstrong, A. Macfarlane, M. Crook, and T. Marteau Patient accounts of diagnostic testing for familial hypercholesterolaemia: Comparing responses to genetic and non-genetic testing methods BMC Med Genet 13 2012 87
84. G.K. Suthers, E.A. McCusker, and S.A. Wake Alerting genetic relatives to a risk of serious inherited disease without a patient's consent Med J Aust 194 2011 385 386
85. A. Taylor, D. Wang, and K. Patel et al. Mutation detection rate and spectrum in familial hypercholesterolaemia patients in the UK pilot cascade project Clin Genet 77 2010 572 580
86. M.P. Lombardi, E.J.W. Redeker, D.H.M. van Gent, K.L. Smeele, R. Weederstein, and M.M. Mannens Molecular genetic testing for familial hypercholesterolaemia in the Netherlands: A stepwise screening strategy enhances the mutation detection rate Genet Test 10 2006 77 84
87. A.J. Hooper, L.T. Nguyen, and J.R. Burnett et al. Genetic analysis of familial hypercholesterolaemia in Western Australia Atherosclerosis 224 2012 430 434
88. M.M. Motazacker, J. Pirruccello, and R. Huijgen et al. Advances in genetics show the need for extending screening strategies for autosomal dominant hypercholesterolaemia Eur Heart J 33 2012 1360 1366
89. Z. Ahmad, B. Adams-Huet, C. Chen, and A. Garg Low prevalence of mutations in known loci for autosomal dominant hypercholesterolemia in a multiethnic patient cohort Circ Cardiovasc Genet 5 2012 666 675
90. P.J. Talmud, S. Shah, and R. Whittall et al. Use of low-density lipoprotein cholesterol gene score to distinguish patients with polygenic and monogenic familial hypercholesterolaemia: A case-control study Lancet 381 2013 13 19
91. L. Nherera, D. Marks, R. Minhas, M. Thorogood, and S.E. Humphries Probabilistic cost-effectiveness analysis of cascade screening for familial hypercholesterolaemia using alternative diagnostic and identification strategies Heart 97 2011 1175 1181
92. European Society of Human Genetics Genetic testing in asymptomatic minors: Recommendations of the European Society of Human Genetics Eur J Hum Genet 17 2009 720 721
93. M.J. Khoury, R.J. Coates, and J.P. Evans Evidence-based classification of recommendations on use of genomic tests in clinical practice: Dealing with insufficient evidence Genet Med 12 2010 680 683
94. National Institute for Health and Clinical Excellence. Elucigene FH20 and LIPOchip for the diagnosis of familial hypercholesterolaemia. 2011. Available at: Http://www.nice.org.uk/guidance/index.jsp?action=byId&o= 13109&history=t. Accessed February 3, 2014.
95. A. Taylor, B. Martin, D. Wang, K. Patel, S.E. Humphries, and G. Norbury Multiplex ligation-dependent probe amplification analysis to screen for deletions and duplications of the LDLR gene in patients with familial hypercholesterolaemia Clin Genet 76 2009 69 75
96. E. Usifo, S.E.A. Leigh, and R.A. Whittall et al. Low-density lipoprotein receptor gene familial hypercholesterolemia variant database: Update and pathological assessment Ann Hum Genet 76 2012 387 401
97. J.G. Robinson, and A.C. Goldberg Treatment of adults with familial hypercholesterolemia and evidence for treatment: Recommendations from the National Lipid Association Expert Panel on Familial Hypercholesterolemia J Clin Lipidol 5 2011 S18 S29
98. G.F. Watts, A. Juniper, F. van Bockxmeer, Z. Ademi, D. Liew, and P. O'Leary Familial hypercholesterolaemia: A review with emphasis on evidence for treatment, new models of care and health economic evaluations Int J Evid Based Healthc 10 2012 211 221
99. M.J. Chapman, H.N. Ginsberg, and P. Amarenco et al. Triglyceride-rich lipoproteins and high-density lipoprotein cholesterol in patients at high risk of cardiovascular disease: Evidence and guidance for management Eur Heart J 32 2011 1345 1361
100. K. Broekhuizen, J.J. Gm, N.M. Mireille van Poppel, L.K. Lj, J. Brug, and W. van Mechelen Is the process of delivery of an individually tailored lifestyle intervention associated with improvements in LDL cholesterol and multiple lifestyle behaviours in people with familial hypercholesterolemia? BMC Public Health 12 2012 348
101. A.H. Lichtenstein, L.J. Appel, and M. Brands et al. Diet and Lifestyle Recommendations Revision 2006: A scientific statement from the American Heart Association Nutrition Committee Circulation 114 2006 82 96
102. S.S. Gidding, A.H. Lichtenstein, and M.S. Faith et al. Implementing American Heart Association Pediatric and Adult Nutrition Guidelines: A Scientific Statement From the American Heart Association Nutrition Committee of the Council on Nutrition, Physical Activity and Metabolism, Council on Cardiovascular Disease in the Young, Council on Arteriosclerosis, Thrombosis and Vascular Biology, Council on Cardiovascular Nursing, Council on Epidemiology and Prevention, and Council for High Blood Pressure Research Circulation 119 2009 1161 1175
103. N.T. Artinian, G.F. Fletcher, and D. Mozaffarian et al. Interventions to promote physical activity and dietary lifestyle changes for cardiovascular risk factor reduction in adults: A scientific statement from the American Heart Association Circulation 122 2010 406 441
104. R.H. Eckel, J.M. Jakicic, and J.D. Ard et al. 2013 AHA/ACC Guideline on Lifestyle Management to Reduce Cardiovascular Risk: A Report of the American College of Cardiology/American Heart Association Task Force on Practice Guidelines J Am Coll Cardiol 2013 http://dx.doi.org/10.1016/j.jacc.2013.11.003
105. R. Estruch, E. Ros, and J. Salas-Salvadó et al. Primary prevention of cardiovascular disease with a Mediterranean diet N Engl J Med 368 2013 1279 1290
106. K.G. Moruisi, W. Oosthuizen, and A.M. Opperman Phytosterols/stanols lower cholesterol concentrations in familial hypercholesterolemic subjects: A systematic review with meta-analysis J Am Coll Nutr 25 2006 41 48
107. G. Mancia, R. Fagard, and K. Narkiewicz et al. 2013 ESH/ESC Guidelines for the management of arterial hypertension: The Task Force for the management of arterial hypertension of the European Society of Hypertension (ESH) and of the European Society of Cardiology (ESC) Blood Press 22 2013 193 278
108. M.D. Jensen, D.H. Ryan, and F.B. Hu et al. 2013 AHA/ACC/TOS Guideline for the Management of Overweight and Obesity in Adults Obesity 2013 http://dx.doi.org/10.1002/oby.20660
109. O.S. Descamps, A. de Meester, P. Cheron, J.J. Kastelein, and F.R. Heller Silent ischaemia in familial hypercholesterolemia Atheroscler Suppl 4 2003 7 8
110. L. Haas, M. Maryniuk, and J. Beck et al. National standards for diabetes self-management education and support Diabetes Care 36 2013 S100 S108
111. Cholesterol Treatment Trialists' (CTT) Collaboration Efficacy and safety of more intensive lowering of LDL cholesterol: A meta-analysis of data from 170 000 participants in 26 randomised trials Lancet 376 2010 1670 1681
112. J. Versmissen, D.M. Oosterveer, and M. Yazdanpanah et al. Efficacy of statins in familial hypercholesterolaemia: A long term cohort study Br Med J 337 2008 a2423
113. A. Neil, J. Cooper, and J. Betteridge et al. Reductions in all-cause, cancer, and coronary mortality in statin-treated patients with heterozygous familial hypercholesterolaemia: A prospective registry study Eur Heart J 29 2008 2625 2633
114. M. Harada-Shiba, T. Sugisawa, and H. Makino et al. Impact of statin treatment on the clinical fate of heterozygous familial hypercholesterolemia J Atheroscler Thromb 17 2010 667 674
115. F.J. Raal, G.J. Pilcher, and V.R. Panz et al. Reduction in mortality in subjects with homozygous familial hypercholesterolemia associated with advances in lipid-lowering therapy Circulation 124 2011 2202 2207
116. A. Elis, R. Zhou, and E.A. Stein Effect of lipid-lowering treatment on natural history of heterozygous familial hypercholesterolemia in past three decades Am J Cardiol 108 2011 223 226
117. R. Alonso, J. Fernandez de Bobadilla, I. Mendez, P. Lazaro, N. Mata, and P. Mata Cost-effectiveness of managing familial hypercholesterolemia using atorvastatin-based preventive therapy Rev Esp Cardiol 61 2008 382 393
118. L. Nherera, N.W. Calvert, and K. DeMott et al. Cost-effectiveness analysis of the use of a high-intensity statin compared to a low-intensity statin in the management of patients with familial hypercholesterolaemia Curr Med Res Opin 26 2010 529 536
119. National Institute for Health and Clinical Excellence. Ezetimibe for the treatment of primary (heterozygous-familial and non-familial) hypercholesterolaemia. NICE technology appraisal guidance 1322010. Available at; http://publications.nice.org.uk/ezetimibe-for-the-treatment-of-primary- heterozygous-familial-and-non-familial-ta132. Accessed February 3, 2014.
120. I. Hamilton-Craig, K. Kostner, D. Colquhoun, and S. Woodhouse Combination therapy of statin and ezetimibe for the treatment of familial hypercholesterolaemia Vasc Health Risk Manag 6 2010 1023 1037
121. P.P. Toth Drug treatment of hyperlipidaemia: A guide to the rational use of lipid-lowering drugs Drugs 70 2010 1363 1379
122. M.J. Chapman, J.S. Redfern, M.E. McGovern, and P. Giral Niacin and fibrates in atherogenic dyslipidemia: Pharmacotherapy to reduce cardiovascular risk Pharmacol Ther 126 2010 314 345
123. J.P. Kane, M.J. Malloy, T.A. Ports, N.R. Phillips, J.C. Diehl, and R.J. Havel Regression of Coronary Atherosclerosis During Treatment of Familial Hypercholesterolemia With Combined Drug Regimens J Am Med Assoc 264 1990 3007 3012
124. S. Yamashita, and Y. Matsuzawa Where are we with probucol: A new life for an old drug? Atherosclerosis 207 2009 16 23
125. C. Gagné, D. Gaudet, and E. Bruckert Efficacy and safety of ezetimibe coadministered with atorvastatin or simvastatin in patients with homozygous familial hypercholesterolemia Circulation 105 2002 2469 2475
126. M. Cuchel, E.A. Meagher, and H. du Toit Theron et al. Efficacy and safety of a microsomal triglyceride transfer protein inhibitor in patients with homozygous familial hypercholesterolaemia: A single-arm, open-label, phase 3 study Lancet 381 2013 40 46
127. F.J. Raal, R.D. Santos, and D.J. Blom et al. Mipomersen, an apolipoprotein B synthesis inhibitor, for lowering of LDL cholesterol concentrations in patients with homozygous familial hypercholesterolaemia: A randomised, double-blind, placebo-controlled trial Lancet 375 2010 998 1006
128. T.R. Bates, V.M. Connaughton, and G.F. Watts Non-adherence to statin therapy: A major challenge for preventive cardiology Expert Opin Pharmacother 10 2009 2973 2985
129. V. Senior, T. Marteau, and J. Weinman Self-reported adherence to cholesterol-lowering medication in patients with familial hypercholesterolaemia: The role of illness perceptions Cardiovasc Drugs Ther 18 2004 475 481
130. J.M. McKenney, M.H. Davidson, T.A. Jacobson, and J.R. Guyton Final conclusions and recommendations of the national lipid association statin safety assessment task force Am J Cardiol 97 2006 S89 S94
131. P.M. Ridker, A. Pradhan, J.G. MacFadyen, P. Libby, and R.J. Glynn Cardiovascular benefits and diabetes risks of statin therapy in primary prevention: An analysis from the JUPITER trial Lancet 380 2012 565 571
132. P.D. Thompson, P.M. Clarkson, and R.S. Rosenson An assessment of statin safety by muscle experts Am J Cardiol 97 2006 S69 S76
133. C.V. Venero, and P.D. Thompson Managing statin myopathy Endocrinol Metab Clin North Am 38 2009 121 136
134. R.H. Eckel Approach to the patient who is intolerant of statin therapy J Clin Endocrinol Metab 95 2010 2015 2022
135. M.H. Davidson, A. Armani, J.M. McKenney, and T.A. Jacobson Safety considerations with fibrate therapy Am J Cardiol 99 2007 S3 S18
136. M.B. Bottorff Statin safety and drug interactions: Clinical implications Am J Cardiol 97 2006 S27 S31
137. W.M. Mampuya, D. Frid, and M. Rocco et al. Treatment strategies in patients with statin intolerance: The Cleveland Clinic experience Am Heart J 166 2013 597 603
138. J.R. Guyton, and A.C. Goldgerg Bile Acid Sequestrants C.M. Ballantyne, Clinical Lipidology: A Companion to Braunwald's Heart Disease 2009 Saunders Elsevier Philadelphia, PA 281 314
139. J.R. Guyton, and H.E. Bays Safety considerations with niacin therapy Am J Cardiol 99 2007 S22 S31
140. R. Haynes, L. Jiang, and J.C. Hopewell et al. HPS2-THRIVE randomized placebo-controlled trial in 25 673 high-risk patients of ER niacin/laropiprant: Trial design, pre-specified muscle and liver outcomes, and reasons for stopping study treatment Eur Heart J 34 2013 1279 1291
141. C.R. Harper, and T.A. Jacobson Managing dyslipidemia in chronic kidney disease J Am Coll Cardiol 51 2008 2375 2384
142. M. Thorogood, M. Seed, and K. De Mott Guideline Development Group. Management of fertility in women with familial hypercholesterolaemia: Summary of NICE guidance Br J Obstet Gynaecol 116 2009 478 479
143. O. Lidegaard, E. Løkkegaard, A. Jensen, C.W. Skovlund, and N. Keiding Thrombotic stroke and myocardial infarction with hormonal contraception N Engl J Med 366 2012 2257 2266
144. D.M. Kusters, H.H. Lahsinoui, and J.A.M. van de Post et al. Statin use during pregnancy: A systematic review and meta-analysis Expert Rev Cardiovasc Ther 10 2012 363 378
145. A. van der Graaf, M.N. Vissers, and D. Gaudet et al. Dyslipidemia of mothers with familial hypercholesterolemia deteriorates lipids in adult offspring Arterioscler Thromb Vasc Biol 30 2010 2673 2677
146. M.K. Ito, M.P. McGowan, and P.M. Moriarty Management of familial hypercholesterolemias in adult patients: Recommendations from the national lipid association expert panel on familial hypercholesterolemia 5 2011 S38 S45
147. R.J. Santen, D.C. Allred, and S.P. Ardoin et al. Postmenopausal hormone therapy: An Endocrine Society scientific statement J Clin Endocrinol Metab 95 2010 s1 s66
148. E. Løkkegaard, A.H. Andreasen, R.K. Jacobsen, L.H. Nielsen, C. Agger, and O. Lidegaard Hormone therapy and risk of myocardial infarction: A national register study Eur Heart J 29 2008 2660 2668
149. J. Rodenburg, M.N. Vissers, and A. Wiegman et al. Statin treatment in children with familial hypercholesterolemia: The younger, the better Circulation 116 2007 664 668
150. H.J. Avis, M.N. Vissers, and E.A. Stein et al. A systematic review and meta-analysis of statin therapy in children with familial hypercholesterolemia Arterioscler Thromb Vasc Biol 27 2007 1803 1810
151. A. Vuorio, J. Kuoppala, and P.T. Kovanen et al. Statins for children with familial hypercholesterolemia Cochrane Database Syst Rev 2010 Issue 7. Art. No.: CD006401
152. B.W. McCrindle, E.M. Urbina, and B.A. Dennison et al. Drug therapy of high risk lipid abnormalities in children and adolescents Circulation 115 2007 1 20
153. M.J.A.M. Braamskamp, F.A. Wijburg, and A. Wiegman Drug therapy of hypercholesterolaemia in children and adolescent Drugs 72 2012 759 772
154. E. Hammond, G.F. Watts, and Y. Rubinstein et al. Role of international registries in enhancing the care of familial hypercholesterolaemia Int J Evid Based Healthc 11 2013 134 139
155. A.L. Amundsen, L. Ose, M.S. Nenseter, and F.Y. Ntanios Plant sterol ester-enriched spread lowers plasma total and LDL cholesterol in children with familial hypercholesterolemia Am J Clin Nutr 76 2002 338 344
156. C. Stefanutti, and U. Julius Lipoprotein apheresis: State of the art and novelties Atheroscler Suppl 14 2013 19 27
157. Z.M. Szczepiorkowski, J.L. Winters, and N. Bandarenko et al. Guidelines on the use of therapeutic apheresis in clinical practice - Evidence-based approach from the apheresis applications committee of the American Society for Apheresis J Clin Apheresis 25 2010 83 177
158. G.R. Thompson The evidence-base for the efficacy of lipoprotein apheresis in combating cardiovascular disease Atheroscler Suppl 14 2013 67 70
159. G.R. Thompson HEART-UK LDL Apheresis Working Group Recommendations for the use of LDL apheresis Atherosclerosis 198 2008 247 255
160. Health Quality Ontario Low-density lipoprotein apheresis: An evidence-based analysis Ontario Health Technology Assessment Series 7 2007 1 101
161. V. Schettler, C.L. Neumann, M. Hulpke-Wette, G.C. Hagenah, E.G. Schulz, and E. Wieland Current view: Indications for extracorporeal lipid apheresis treatment Clin Res Cardiol Suppl 7 2012 15 19
162. B.R. Jaeger, Y. Richter, and D. Nagel et al. Longitudinal cohort study on the effectiveness of lipid apheresis treatment to reduce high lipoprotein (a) levels and prevent major adverse coronary events Nat Clin Pract Cardiovasc Med 6 2009 229 239
163. J. Leebmann, E. Roseler, and U. Julius et al. Lipoprotein apheresis in patients with maximally tolerated lipid lowering therapy, Lp(a)- hyperlipoproteinemia and progressive cardiovascular disease: Prospective observational multicenter study Circulation 128 2013 2567 2576
164. M.S. Safarova, M.V. Ezhov, and O.I. Afanasieva et al. Effect of specific lipoprotein(a) apheresis on coronary atherosclerosis regression assessed by quantitative coronary angiography Atheroscler Suppl 14 2013 93 99
165. L.C. Hudgins, B. Kleinman, A. Scheuer, S. White, and B.R. Gordon Long-term safety and efficacy of low-density lipoprotein apheresis in childhood for homozygous familial hypercholesterolemia Am J Cardiol 102 2008 1199 1204
166. J.-B. Palcoux, M. Atassi-Dumont, and P. Lefevre et al. Low-density lipoprotein apheresis in children with familial hypercholesterolemia: Follow-up to 21 years Ther Apher Dial 12 2008 195 201
167. C. Stefanutti, A. Lanti, and S. Di Giacomo et al. Therapeutic apheresis in low weight patients: Technical feasibility, tolerance, compliance, and risks Transfus Apher Sci 31 2004 3 10
168. A. Græsdal, M.P. Bogsrud, and K.B. Holven et al. Apheresis in homozygous familial hypercholesterolemia: The results of a follow-up of all Norwegian patients with homozygous familial hypercholesterolemia J Clin Lipidol 6 2012 331 339
169. D.M. Kolansky, M. Cuchel, and B.J. Clark et al. Longitudinal evaluation and assessment of cardiovascular disease in patients with homozygous familial hypercholesterolemia Am J Cardiol 102 2008 1438 1443
170. A. Vogt, and K.G. Parhofer The potential of mipomersen, an ApoB synthesis inhibitor, to reduce necessity for LDL-apheresis in patients with heterozygous familial hypercholesterolemia and coronary artery disease Expert Opin Pharmacother 14 2013 691 697
171. G.K. Hovingh, M.H. Davidson, J.J.P. Kastelein, and A.M. O'Connor Diagnosis and treatment of familial hypercholesterolaemia Eur Heart J 34 2013 962 971
172. A.S. Wierzbicki, A. Viljoen, T.C. Hardman, and D.P. Mikhailidis New therapies to reduce low-density lipoprotein cholesterol Curr Opin Cardiol 28 2013 452 457
173. M. Moini, P. Mistry, and M.L. Schilsky Liver transplantation for inherited metabolic disorders of the liver Curr Opin Organ Tran 15 2010 269 276
174. A. Maiorana, V. Nobili, and S. Calandra et al. Preemptive liver transplantation in a child with familial hypercholesterolemia Pediatr Transplant 15 2011 E25 E29
175. M.H. Nemati, and B. Astaneh Optimal management of familial hypercholesterolemia: Treatment and management strategies Vasc Health Risk Manag 6 2010 1079 1088
176. M. Ibrahim, I. El-Hamamsy, M. Barbir, and M.H. Yacoub Translational lessons from a case of combined heart and liver transplantation for familial hypercholesterolemia 20 years post-operatively J Cardiovasc Transl Res 5 2012 351 358
177. H. Buchwald, K.D. Rudser, S.E. Williams, V.N. Michalek, J. Vagasky, and J.E. Connett Overall mortality, incremental life expectancy, and cause of death at 25 years in the program on the surgical control of the hyperlipidemias Ann Surg 251 2010 1034 1040
178. A.D. Marais, J.C. Firth, and D.J. Blom Homozygous familial hypercholesterolemia and its management Semin Vasc Med 4 43 2004 50
179. F. Al-Allaf, C. Coutelle, S. Waddington, A. David, R. Harbottle, and M. Themis LDLR-Gene therapy for familial hypercholesterolaemia: Problems, progress, and perspectives Int Arch Med 3 2010 36
180. S.H. Kassim, H. Li, and P. Bell et al. Adeno-associated virus serotype 8 gene therapy leads to significant lowering of plasma cholesterol levels in humanized mouse models of homozygous and heterozygous familial hypercholesterolemia Hum Gene Ther 24 2013 19 26
181. A.D. Marais, and D.J. Blom Recent advances in the treatment of homozygous familial hypercholesterolaemia Curr Opin Lipidol 24 2013 288 294
182. N.G. Seidah Proprotein Convertase Subtilisin Kexin 9 (PCSK9) inhibitors in the treatment of hypercholesterolemia and other pathologies Curr Pharm Des 19 2013 3161 3172
183. E.A. Stein, D. Gipe, and J. Bergeron et al. Effect of a monoclonal antibody to PCSK9, REGN727/SAR236553, to reduce low-density lipoprotein cholesterol in patients with heterozygous familial hypercholesterolaemia on stable statin dose with or without ezetimibe therapy: A phase 2 randomised controlled trial Lancet 380 2012 29 36
184. J.M. McKenney, M.J. Koren, D.J. Kereiakes, C. Hanotin, A.-C. Ferrand, and E.A. Stein Safety and efficacy of a monoclonal antibody to proprotein convertase subtilisin/kexin type 9 serine protease, SAR236553/REGN727, in patients with primary hypercholesterolemia receiving ongoing stable atorvastatin therapy J Am Coll Cardiol 59 2012 2344 2353
185. E.A. Stein, S. Mellis, and G.D. Yancopoulos et al. Effect of a monoclonal antibody to PCSK9 on LDL cholesterol N Engl J Med 366 2012 1108 1118
186. F. Raal, R. Scott, and R. Somaratne et al. Low-density lipoprotein cholesterol-lowering effects of AMG 145, a monoclonal antibody to proprotein convertase subtilisin/kexin type 9 serine protease in patients with heterozygous familial hypercholesterolemiaclinical perspective: The Reduction of LDL-C with PCSK9 Inhibition in Heterozygous Familial Hypercholesterolemia Disorder (RUTHERFORD) Randomized Trial Circulation 126 2012 2408 2417
187. R.P. Giugliano, N.R. Desai, and P. Kohli et al. Efficacy, safety, and tolerability of a monoclonal antibody to proprotein convertase subtilisin/kexin type 9 in combination with a statin in patients with hypercholesterolaemia (LAPLACE-TIMI 57): A randomised, placebo-controlled, dose-ranging, phase 2 study Lancet 380 2012 2007 2017
188. M.J. Koren, R. Scott, and J.B. Kim et al. Efficacy, safety, and tolerability of a monoclonal antibody to proprotein convertase subtilisin/kexin type 9 as monotherapy in patients with hypercholesterolaemia (MENDEL): A randomised, double-blind, placebo-controlled, phase 2 study Lancet 380 2012 1995 2006
189. E.A. Stein, N. Honarpour, S.M. Wasserman, F. Xu, R. Scott, and F.J. Raal Effect of the PCSK9 monoclonal antibody, AMG 145, in homozygous familial hypercholesterolemia Circulation 128 2013 2113 2120
190. M.E. Visser, J.L. Witztum, E.S.G. Stroes, and J.J.P. Kastelein Antisense oligonucleotides for the treatment of dyslipidaemia Eur Heart J 33 2012 1451 1458
191. E.A. Stein, R. Dufour, and C. Gagne et al. Apolipoprotein B synthesis inhibition with mipomersen in heterozygous familial hypercholesterolemia clinical perspective: Results of a randomized, double-blind, placebo-controlled trial to assess efficacy and safety as add-on therapy in patients with coronary artery disease Circulation 126 2012 2283 2292
192. M.P. McGowan, J.-C. Tardif, and R. Ceska et al. Randomized, placebo-controlled trial of mipomersen in patients with severe hypercholesterolemia receiving maximally tolerated lipid-lowering therapy PLoS One 7 2012 e49006
193. M. Cuchel, and D.J. Rader Microsomal transfer protein inhibition in humans Curr Opin Lipidol 24 2013 246 250
194. D. Sullivan, A.G. Olsson, and R. Scott et al. Effect of a monoclonal antibody to pcsk9 on low-density lipoprotein cholesterol levels in statin-intolerant patients: The GAUSS Randomized TrialAMG145 in statin-intolerant patients JAMA 308 2012 2497 2506
195. H.J. Avis, D.M. Kusters, and M.N. Vissers et al. Follow-up of children diagnosed with familial hypercholesterolemia in a national genetic screening program J Pediatr 161 2012 99 103
196. S.G. Hadfield, S. Horara, and B.J. Starr et al. Are patients with familial hypercholesterolaemia well managed in lipid clinics? An audit of eleven clinics from the Department of Health Familial Hypercholesterolaemia Cascade Testing project Ann Clin Biochem 45 2008 199 205
197. K.M.V. Pedersen, S.E. Humphries, M. Roughton, and J.S. Besford The National Audit of the Management of Familial Hypercholesterolaemia 2010: Full Report 2010 Clinical Standards Department, Royal College of Physicians London
198. A.C. Goldberg, J.G. Robinson, W.C. Cromwell, J.L. Ross, and P.E. Ziajka Future issues, public policy, and public awareness of familial hypercholesterolemias: Recommendations from the National Lipid Association Expert Panel on Familial Hypercholesterolemia J Clin Lipidol 5 2011 S46 S51
199. E. Aarden, I. Van Hoyweghen, and K. Horstman The paradox of public health genomics: Definition and diagnosis of familial hypercholesterolaemia in three European countries Scand J Public Health 39 2011 634 639
200. N. Mata, R. Alonso, and L. Badimón et al. Clinical characteristics and evaluation of LDL-cholesterol treatment of the Spanish Familial Hypercholesterolemia Longitudinal Cohort Study (SAFEHEART) Lipids Health Dis 10 2011 94
201. C.N. Bairey Merz, M.J. Alberts, and G.J. Balady et al. ACCF/AHA/ACP 2009 Competence and Training Statement: A curriculum on prevention of cardiovascular disease: A report of the American College of Cardiology Foundation/American Heart Association/American College of Physicians Task Force on Competence and Training (Writing Committee to Develop a Competence and Training Statement on Prevention of Cardiovascular Disease): Developed in collaboration with the American Academy of Neurology; American Association of Cardiovascular and Pulmonary Rehabilitation; American College of Preventive Medicine; American College of Sports Medicine; American Diabetes Association; American Society of Hypertension; Association of Black Cardiologists; Centers for Disease Control and Prevention; National Heart, Lung, and Blood Institute; National Lipid Association; and Preventive Cardiovascular Nurses Association J Am Coll Cardiol 54 2009 1336 1363
202. N. Mata, R. Alonso, J.R. Banegas, D. Zambon, A. Brea, and P. Mata Quality of life in a cohort of familial hypercholesterolemia patients from the south of Europe Eur J Public Health 2012 http://dx.doi.org/10.1093/eurpub/cks174
203. D.A. Bell, J. Garton-Smith, and A. Vickery et al. Familial hypercholesterolaemia in primary care: Knowledge and practices among general practitioners in Western Australia Heart Lung Circ 2013 http://dx.doi.org/10. 1016/j.hlc.2013.08.005
204. S.H. Stephenson, S. Larrinaga-Shum, and P.N. Hopkins Benefits of the MEDPED treatment support program for patients with familial hypercholesterolemia J Clin Lipidol 3 2009 94 100
205. J.K. Allen, C.R.D. Himmelfarb, S.L. Szanton, and K.D. Frick Cost-effectiveness of nurse practitioner/community health worker care to reduce cardiovascular health disparities J Cardiovasc Nursing 2013 http://dx.doi.org/ 10.1097/JCN.0b013e3182945243
206. J. Ross Educating patients about familial hypercholesterolemia: The role of the cardiovascular nurse J Cardiovasc Nurs 28 2013 102
207. D.J. Maron, W.E. Boden, W.S. Weintraub, and R.A. O'Rourke Is optimal medical therapy as used in the courage trial feasible for widespread use? Curr Treat Options Cardiovasc Med 13 2011 16 25
208. R.D. Aatre, and S.M. Day Psychological issues in genetic testing for inherited cardiovascular diseases Circ Cardiovasc Genet 4 2011 81 90
209. I. Krass, A.T. Walker, and G.F. Watts Detection and care of familial hypercholesterolaemia in the community: Is there a role for the pharmacist? Int J Clin Pharm 34 2012 501 505
210. G.F. Watts, D.R. Sullivan, and F.M. van Bockxmeer et al. A new model of care for familial hypercholesterolaemia: What is the role of cardiology? Heart Lung Circ 21 2012 543 550
211. R.M. Califf, E.D. Peterson, and R.J. Gibbons et al. Integrating quality into the cycle of therapeutic development J Am Coll Cardiol 40 2002 1895 1901