Familial hypercholesterolaemia: A model of care for Australasia

Atherosclerosis Supplements

Volumn 12, Issue 2, 2011, Pages 221-263

  Watts, Gerald F ^a   Sullivan, David R ^b   Poplawski, Nicola ^c   van Bockxmeer, Frank ^d   Hamilton Craig, Ian ^e   Clifton, Peter M ^f   O'Brien, Richard ^g   Bishop, Warrick ^h   George, Peter ⁱ   Barter, Phillip J ^j   Bates, Timothy ^a   Burnett, John R ^d   Coakley, John ^k   Davidson, Patricia ^l   Emery, Jon ^d   Martin, Andrew ^m   Farid, Waleed ⁿ   Freeman, Lucinda ^b   Geelhoed, Elizabeth ^d   Juniper, Amanda ^a,o   Kidd, Alexa ^p   Kostner, Karam ^q   Krass, Ines ^j   Livingston, Michael ^r   Maxwell, Suzy ^o   O'Leary, Peter ^o   Owaimrin, Amal ^s   Redgrave, Trevor G ^a   Reid, Nicola ^t   Southwell, Lynda ^a   Suthers, Graeme ^c   Tonkin, Andrew ^u   Towler, Simon ^o   Trent, Ronald ^b   more..

^a UNIVERSITY OF WESTERN AUSTRALIA   (Australia)

^b ROYAL PRINCE ALFRED HOSPITAL   (Australia)

^c WOMEN S AND CHILDREN S HOSPITAL   (Australia)

^d UNIVERSITY OF WESTERN AUSTRALIA   (Australia)

^e GOLD COAST UNIVERSITY HOSPITAL   (Australia)

^f BAKER IDI HEART AND DIABETES INSTITUTE   (Australia)

^g UNIVERSITY OF MELBOURNE   (Australia)

^h Calvary Cardiac Centre   (Australia)

ⁱ UNIVERSITY OF OTAGO   (New Zealand)

^j UNIVERSITY OF SYDNEY   (Australia)

^k CHILDREN S HOSPITAL AT WESTMEAD   (Australia)

^l CURTIN UNIVERSITY   (Australia)

^m PRINCESS MARGARET HOSPITAL FOR CHILDREN   (Australia)

ⁿ FH Family Support Group of Western Australia   (Australia)

^o DEPARTMENT OF HEALTH   (Australia)

^p CANTERBURY HEALTH LABORATORIES   (New Zealand)

^q UNIVERSITY OF QUEENSLAND   (Australia)

^r International Cholesterol Foundation   (United Kingdom)

^s Auburn Hospital   (Australia)

^t CHRISTCHURCH HOSPITAL   (New Zealand)

^u MONASH UNIVERSITY   (Australia)

more..

Author keywords

Adolescents; Adults; Assessment; Cascade screening; Children; Diagnosis; Familial hypercholesterolaemia; Genetic testing; Model of care; Treatment

Indexed keywords

APOLIPOPROTEIN B; CITRIC ACID; DEXTRAN; HEPARIN; KEXIN; LOW DENSITY LIPOPROTEIN CHOLESTEROL; STANOZOLOL; STATIN; SUBTILISIN;

ADMINISTRATIVE PERSONNEL; AEROBIC EXERCISE; ANTISENSE THERAPY; AORTA VALVE REPLACEMENT; APHERESIS; ARTERIOVENOUS SHUNT; ATHEROSCLEROSIS; AUSTRALIA AND NEW ZEALAND; CENTRAL VENOUS CATHETER; CHOLESTEROL BLOOD LEVEL; CLINICAL PROTOCOL; CONSENSUS DEVELOPMENT; CORONARY ARTERY BYPASS SURGERY; COST EFFECTIVENESS ANALYSIS; DIABETES MELLITUS; DIET SUPPLEMENTATION; DISEASE MODEL; FAMILIAL HYPERCHOLESTEROLEMIA; FOLLOW UP; GENETIC SCREENING; GENETIC VARIABILITY; HEALTH CARE; HEALTH CARE COST; HEALTH CARE QUALITY; HEMODIALYSIS; HUMAN; HYPERTENSION; HYPERTRIGLYCERIDEMIA; IMMUNOADSORPTION; INFORMATION TECHNOLOGY; INFORMED CONSENT; INSURANCE; LABORATORY TEST; LIFESTYLE MODIFICATION; MASS SCREENING; MEDICAL AUDIT; MEDICAL EDUCATION; MEMBRANE FILTER; OBESITY; ORGANIZATION AND MANAGEMENT; OUTCOME ASSESSMENT; PATIENT ASSESSMENT; PATIENT MONITORING; PATIENT SELECTION; PLASMAPHERESIS; PRECIPITATION; PRIORITY JOURNAL; REVIEW; RISK ASSESSMENT; RISK FACTOR; SMOKING; STRATIFIED SAMPLE;

ADOLESCENT; ADULT; ANTICHOLESTEREMIC AGENTS; APOLIPOPROTEINS B; ATHEROSCLEROSIS; AUSTRALASIA; BLOOD COMPONENT REMOVAL; CHILD; CHOLESTEROL, LDL; CORONARY DISEASE; FEMALE; HUMANS; HYDROXYMETHYLGLUTARYL-COA REDUCTASE INHIBITORS; HYPERLIPOPROTEINEMIA TYPE II; PATIENT CARE MANAGEMENT; RISK FACTORS;

EID: 84855501197     PISSN: 15675688     EISSN: 18785050     Source Type: Journal    
DOI: 10.1016/j.atherosclerosissup.2011.06.001     Document Type: Review

References (303)

1. Austin M.A., Hutter C.M., Zimmern R.L., Humphries S.E. Genetic causes of monogenic heterozygous familial hypercholesterolaemia: a HuGE prevalence review. Am J Epidemiol 2004, 160:407-420.
2. Rader D.J., Cohen J., Hobbs H.H. Monogenic hypercholesterolemia: new insights in pathogenesis and treatment. J Clin Invest 2003, 111:1795-1803.
3. Soutar A.K., Naoumova R.P. Mechanisms of disease: genetic causes of familial hypercholesterolemia. Nat Clin Pract Cardiovasc Med 2007, 4:214-225.
4. Marks D., Thorogood M., Neil H.A.W., Wonderling D., Humphries S.E. Comparing costs and benefits over a 10 year period for strategies for familial hypercholesterolaemia screening. J Public Health Med 2003, 25:47-52.
5. World Health Organization Familial hypercholesterolaemia: report of a WHO consultation 1997, World Health Organisation, Paris.
6. Marks D., Thorogood M., Humphries S., Neil H.A.W. Cascade screening for familial hypercholesterolaemia: implications of a pilot study for national screening programmes. J Med Screen 2006, 13:156-159.
7. Leren T.P. Cascade genetic screening for familial hypercholesterolemia. Clin Genet 2004, 66:483-487.
8. Hadfield S.G., Humphries S.E. Implementation of cascade testing for the detection of familial hypercholesterolaemia. Curr Opin Lipidol 2005, 16:428-433.
9. Hadfield S.G., Horara S., Starr B.J., 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 2009, 46:24-32.
10. Australian and New Zealand Horizon Scanning Unit Australian Government Genetic screening for familial hypercholesterolaemia 2007, Department of Health and Ageing, Canberra.
11. Umans-Eckenhausen M.A.W., Defesche J.C., Sijbrands E.J.G., Scheerder R.L.J.M., Kastelein J.J.P. Review of first 5 years of screening for familial hypercholesterolaemia in the Netherlands. Lancet 2001, 357:165-168.
12. 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, Available from:, [2011]. http://www.nice.org.uk/nicemedia/pdf/CG071NICEGuideline.pdf.
13. Civeira F. Guidelines for the diagnosis and management of heterozygous familial hypercholesterolaemia. Atherosclerosis 2004, 173:55-68.
14. 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 2002, 106:3143-3421.
15. Tonkin A., Barter P., Best J., et al. National Heart Foundation of Australia and the Cardiac Society of Australia and New Zealand: position statement on lipid management-2005. Heart Lung Circ 2005, 14:275-291.
16. Graham I., Atar D., Borch-Johnsen K., et al. European guidelines on cardiovascular disease prevention in clinical practice: executive summary. Eur Heart J 2007, 28:2375-2414.
17. Brunzell J.D., Davidson M., Furberg C.D., et al. Lipoprotein management in patients with cardiometabolic risk. Diabetes Care 2008, 31:811-822.
18. Reiner Z., Catapano A.L., De Backer G., et al. ESC/EAS Guidelines for the management of dyslipidaemias. Eur Heart J 2011, 32:1769-1818.
19. Neil H.A.W., Hammond T., Huxley R., Matthews D.R., Humphries S.E. Extent of underdiagnosis of familial hypercholesterolaemia in routine practice: prospective registry study. Br Med J 2000, 321:148.
20. Pijlman A.H., Huijgen R., Verhagen S.N., et al. Evaluation of cholesterol lowering treatment of patients with familial hypercholesterolemia: a large cross-sectional study in the Netherlands. Atherosclerosis 2010, 209:189-194.
21. Huijgen R., Kindt I., Verhoeven S., et al. Two years after molecular diagnosis of familial hypercholesterolemia: majority on cholesterol-lowering treatment but a minority reaches treatment goal. PLoS ONE 2010, 5:e9220.
22. Hamilton-Craig I. Case-finding for familial hypercholesterolemia in the Asia-Pacific region. Semin Vasc Med 2004, 4:87-92.
23. Bates T.R., Burnett J.R., van Bockxmeer F.M., Hamilton S., Arnolda L., Watts G.F. Detection of familial hypercholesterolaemia: a major treatment gap in preventative cardiology. Heart Lung Circ 2008, 17:411-413.
24. Muir L.A., George P.M., Laurie A.D., Reid N., Whitehead L. Preventing cardiovascular disease: a review of the effectiveness of identifying the people with familial hypercholesterolaemia in New Zealand. N Z Med J 2010, 123:97-102.
25. Davidson P.M., Halcomb E.J., Hickman L.D., Phillips J.L., Graham B. Beyond the rhetoric: what do we mean by a 'model of care'?. Aust J Adv Nurs 2006, 23:47-55.
26. HEART UK FH guideline implementation team toolkit 2010, Available from:. http://www.heartuk.org.uk/FHToolkit.
27. Datta B.N., McDowell I.F., Rees A. Integrating provision of specialist lipid services with cascade testing for familial hypercholesterolaemia. Curr Opin Lipidol 2010, 21:366-371.
28. Stephenson S.H., Larrinaga-Shum S., Hopkins P.N. Benefits of the MEDPED treatment support program for patients with familial hypercholesterolemia. J Clin Lipidol 2009, 3:94-100.
29. Hayden M.R., Josephson R. Development of a program for identification of patients with familial hypercholesterolaemia in British Columbia: a model for prevention of coronary disease. Am J Cardiol 1993, 72:25D-29D.
30. Goldberg A.C., Hopkins P.N., Toth P.P., 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, 5:133-140.
31. Wierzbicki A.S., Humphries S.E., Minhas R. Familial hypercholesterolaemia: summary of NICE guidance. Br Med J 2008, 337:a1095. on behalf of the Guideline Development Group.
32. Minhas R., Humphries S.E., Qureshi N., Neil H.A.W. Controversies in familial hypercholesterolaemia: recommendations of the NICE guideline development group for the identification and management of familial hypercholesterolaemia. Heart 2009, 95:584-587. on behalf of the NGDG.
33. National Heart Foundation of Australia, Cardiac Society of Australia and New Zealand Reducing risk in heart disease 2007: guidelines for preventing cardiovascular events in people with coronary heart disease 2008, Available from:. http://www.heartfoundation.org.au/Professional_Information/Clinical_Practice/Prevention/Pages/default.aspx.
34. New Zealand Guidelines Group The assessment and management of cardiovascular risk 2003, NZGG, Wellington.
35. World Health Organization Familial hypercholesterolaemia. Report of a second WHO consultation 1999, World Health Organization, Geneva.
36. Burnett J.R., Ravine D., van Bockxmeer F.M., Watts G.F. Familial hypercholesterolaemia: a look back, a look ahead. Med J Aust 2005, 182:552-553.
37. Sullivan D. Guidelines for the diagnosis and management of familial hypercholesterolaemia. Heart Lung Circ 2007, 16:25-27. Members of the CSANZ Cardiovascular Genetics Working Group.
38. Familial Hypercholesterolaemia Western Australia Program Committee Model of care familial hypercholesterolaemia 2008, Available from:, [cited 28 March 2011]. http://www.genomics.health.wa.gov.au/fh/index.cfm.
39. Watts G.F., van Bockxmeer F.M., Bates T., Burnett J.R., Juniper A., O'Leary P. A new model of care for familial hypercholesterolaemia from Western Australia: closing a major gap in preventive cardiology. Heart Lung Circ 2010, 19:419-422.
40. National Health and Medical Research Council (NHMRC) NHMRC additional levels of evidence and grades for recommendations for developers of guidelines. Pilot program 2005-2007 2005.
41. Watts G.F., Lewis B., Sullivan D.R. Familial hypercholesterolaemia: a missed opportunity in preventive medicine. Nat Clin Pract Cardiovasc Med 2007, 4:404-405.
42. Scientific Steering Committee, Simon Broome Register Group Risk of fatal coronary heart disease in familial hypercholesterolaemia. Scientific Steering Committee on behalf of the Simon Broome Register group. Br Med J 1991, 303:893-896.
43. Williams R.R., Hunt S.C., Schumacher M.C., et al. Diagnosing heterozygous familial hypercholesterolemia using new practical criteria validated by molecular genetics. Am J Cardiol 1993, 72:171-176.
44. Marks D., Thorogood M., Neil H.A.W., Humphries S.E. A review on the diagnosis, natural history, and treatment of familial hypercholesterolaemia. Atherosclerosis 2003, 168:1-14.
45. Damgaard D., Larsen M.L., Nissen P.H., et al. The relationship of molecular genetic to clinical diagnosis of familial hypercholesterolemia in a Danish population. Atherosclerosis 2005, 180:155-160.
46. Hopkins P.N., Toth P.P., Ballantyne C.M., Rader D.J. Familial hypercholesterolemias: prevalence, genetics, diagnosis and screening recommendations from the National Lipid Association Expert Panel on Familial Hypercholesterolemia. J Clin Lipidol 2011, 5:S9-S17.
47. Starr B., Hadfield G., Hutton B.A., 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 2008, 46:791-803.
48. Tiyyagura S.R., Smith D.A. Standard lipid profile. Clin Lab Med 2006, 26:707-732.
49. Daniels S.R., Greer F.R. Lipid screening and cardiovascular health in childhood. Pediatrics 2008, 122:198-208. and the Committee on Nutrition.
50. Freedman D.S., Wang Y.C., Dietz W.H., Xu J.-H., Srinivasan S.R., Berenson G.S. Changes and variability in high levels of low-density lipoprotein cholesterol among children. Pediatrics 2010, 126:266-273.
51. Chow C.K., Islam S., Bautista L., et al. Parental history and myocardial infarction risk across the world: the interheart study. J Am Coll Cardiol 2011, 57:619-627.
52. Emery J.D., Walter F.M., Ravine D. Family history: the neglected risk factor in disease prevention. Med J Aust 2010, 192:677-678.
53. Walter F.M., Emery J. 'Coming down the line'-patients' understanding of their family history of common chronic disease. Arch Fam Med 2005, 3:405-414.
54. O'Neill S.M., Rubinstein W.S., Wang C., et al. Familial risk for common diseases in primary care: the Family Healthware™ Impact Trial. Am J Prev Med 2009, 36:506-514.
55. Bates T.R., Poulter E.B., Van Bockxmeer F.M., Watts G.F. Family history: the neglected risk factor in disease prevention. Med J Aust 2010, 193:429-430. [Letter].
56. Hopkins P.N., Stephenson S., Wu L.L., Riley W.A., Xin Y., Hunt S.C. Evaluation of coronary risk factors in patients with heterozygous familial hypercholesterolemia. Am J Cardiol 2001, 87:547-553.
57. Jansen A.C.M., van Aalst-Cohen E.S., Tanck M.W., et al. The contribution of classical risk factors to cardiovascular disease in familial hypercholesterolaemia: data in 2400 patients. J Intern Med 2004, 256:482-490.
58. De Sauvage Nolting P.R.W., Defesche J.C., Buirma R.J.A., Hutten B.A., Lansberg P.J., Kastelein J.J.P. Prevalence and significance of cardiovascular risk factors in a large cohort of patients with familial hypercholesterolaemia. J Intern Med 2003, 253:161-168.
59. Sniderman A., Couture P., de Graaf J. Diagnosis and treatment of apolipoprotein B dyslipoproteinemias. Nat Rev Endocrinol 2010, 6:335-346.
60. Genest J., McPherson R., Frohlich J., et al. 2009 Canadian Cardiovascular Society/Canadian guidelines for the diagnosis and treatment of dyslipidemia and prevention of cardiovascular disease in the adult-2009 recommendations. Can J Cardiol 2009, 25:567-579.
61. Dorsch M.F., Lawrance R.A., Durham N.P., Hall A.S. Familial hypercholesterolaemia is underdiagnosed after AMI. Br Med J 2001, 322:111.
62. McKenney J.M., Ganz P., Wiggins B.S., Saseen J.S. Statins. Clinical lipidology: a companion to Braunwald's heart disease 2009, Saunders, Elsevier, Philadelphia, p. 253-280. C.M. Ballantyne (Ed.).
63. Ritchie S.K., Murphy E.C.-S., Ice C., et al. Universal versus targeted blood cholesterol screening among youth: the cardiac project. Pediatrics 2010, 126:260-265.
64. Wald D.S., Bestwick J.P., Wald N.J. Child-parent screening for familial hypercholesterolaemia: screening strategy based on a meta-analysis. Br Med J 2007, 335:599.
65. Daniels S.R., Gidding S.S., de Ferranti S.D. Pediatric aspects of familial hypercholesterolemias: recommendations from the National Lipid Association Expert Panel on Familial Hypercholesterolemia. J Clin Lipidol 2011, 5:S30-S37.
66. Descamps O.S., Tenoutasse S., Stephenne X., 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 patent organization. Atherosclerosis 2011, (in press).
67. Marks D., Wonderling D., Thorogood M., Lambert H., Humphries S.E., Neil H.A.W. Cost effectiveness analysis of different approaches of screening for familial hypercholesterolaemia. Br Med J 2002, 324:1303-1309.
68. Humphries S.E., Norbury G., Leigh S., Hadfield S.G., Nair D. What is the clinical utility of DNA testing in patients with familial hypercholesterolaemia?. Curr Opin Lipidol 2008, 19:362-368.
69. Gray J., Jaiyeola A., Whiting M., Modell M., Wierzbicki A.S. Identifying patients with familial hypercholesterolaemia in primary care: an informatics-based approach in one primary care centre. Heart 2008, 94:754-758.
70. Qureshi N., Humphries S.E., Seed M., Rowlands P., Minhas R. Identification and management of familial hypercholesterolaemia: What does it mean to primary care?. Br J Gen Pract 2009, 59:773-778. NICE Guideline Development Group.
71. Australian Government Department of Health and Ageing A27 health assessment provided for people aged 45-49 years who are at risk of developing chronic disease 2011, Available from:, [9th March 2011]. http://www9.health.gov.au/mbs/fullDisplay.cfm%3Ftype=note%26qt=NoteID%26q=A27.
72. Peterson G., Fitzmaurice K., Kruup H., Jackson S., Rasiah R. Cardiovascular risk screening program in Australian community pharmacies. Pharm World Sci 2010, 32:373-380.
73. Mason C.M. Development and management of a lipid clinic. Contemporary cardiology: therapeutic lipidology 2007, 441-480. Human Press Inc, Totowa, NJ. M.H. Davidson, P.P. Toth, K.C. Maki (Eds.).
74. Bairey Merz C.N., Alberts M.J., Balady G.J., et al. ACCF/AHA/ACP 2009 competence and training statement: a curriculum on prevention of cardiovascular disease. J Am Coll Cardiol 2009, 54:1336-1363.
75. Austin M.A., Hutter C.M., Zimmern R.L., Humphries S.E. Familial hypercholesterolemia and coronary heart disease: a HuGE association review. Am J Epidemiol 2004, 160:421-429.
76. Oosterveer D.M., Versmissen J., Schinkel A.F., Langendonk J.G., Mulder M., Sijbrands E.J. Clinical and genetic factors influencing cardiovascular risk in patients with familial hypercholesterolemia. Clin Lipidol 2010, 5:189-197.
77. Nordestgaard B.G., Chapman M.J., Ray K., et al. Lipoprotein(a) as a cardiovascular risk factor: current status. Eur Heart J 2010, 31:2844-2853.
78. Taylor A.J., Merz C.N.B., Udelson J.E. Executive summary-can atherosclerosis imaging techniques improve the detection of patients at risk for ischemic heart disease?. J Am Coll Cardiol 2003, 41:1860-1862.
79. Naghavi M., Falk E., Hecht H.S., et al. From vulnerable plague to vulnerable patient-part III: executive summary of the Screening for Heart Attack Prevention and Education Task Force Report. Am J Cardiol 2007, 99:1481-1482.
80. Greenland P., Alpert J.S., Beller G.A., 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 2010, 122:2748-2764.
81. Michos E.D., Nasir K., Rumberger J.A., 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 2005, 95:655-657.
82. Hutter C.M., Austin M.A., Humphries S.E. Familial hypercholesterolemia, peripheral arterial disease and stroke: a HuGE minireview. Am J Epidemiol 2004, 160:430-435.
83. Wiegman A., de Groot E., Hutten B.A., et al. Arterial intima-media thickness in children heterozygous for familial hypercholesterolaemia. Lancet 2004, 363:369-370.
84. Dogan S., Duivenvoorden R., Grobbee D.E., et al. Ultrasound protocols to measure carotid intima-media thickness in trials; comparison of reproducibility, rate of progression, and effect of intervention in subjects with familial hypercholesterolemia and subjects with mixed dyslipidemia. Ann Med 2010, 42:447-464.
85. Andersen L.K., Jensen H.K., Juul S., Faergeman O. Patients' attitudes toward detection of heterozygous familial hypercholesterolemia. Arch Intern Med 1997, 157:553-560.
86. Agard A., Bolmsjo I., Hermeren G., Wahlstom J. Familial hypercholesterolemia: ethical, practical and psychological problems from the perspectives of patients. Patient Educ Couns 2005, 57:162-167.
87. Claassen L., Henneman L., Kindt I., Marteau T.M., Timmermans D.R.M. Perceived risk and representations of cardiovascular disease and preventive behaviour in people diagnosed with familial hypercholesterolemia. J Health Psychol 2010, 15:33-43.
88. Marteau T., Senior V., Humphries S.E., et al. Psychological impact of genetic testing for familial hypercholesterolemia within a previously aware population: a randomized controlled trial. Am J Med Genet 2004, 128A:285-293.
89. Australian Bureau of Statistics 4233.0-health literacy, Australia 2006, Available from:. http://www.abs.gov.au/AUSSTATS/abs@.nsf/DetailsPage/4233.02006.
90. von Wagner C., Steptoe A., Wolf M.S., Wardle J. Health literacy and health actions: a review and a framework from health psychology. Health Educ Behav 2009, 36:860-877.
91. Frich J.C., Ose L., Malterud K., Fugelli P. Perceived vulnerability to heart disease in patients with familial hypercholesterolemia: a qualitative interview study. Arch Fam Med 2006, 4:198-204.
92. Walter F.M., Emery J., Braithwaite D., Marteau T.M. Lay understanding of familial risk of common chronic diseases: a systematic review and synthesis of qualitative research. Arch Fam Med 2004, 2:583-594.
93. Mark D.B., Berman D.S., Budoff M.J., et al. ACCF/ACR/AHA/NASCI/SAIP/SCAI/SCCT 2010 expert consensus document on coronary computed tomographic angiography: a report of the American College of Cardiology Foundation Task Force on Expert Consensus Documents. J Am Coll Cardiol 2010, 55:2663-2699.
94. Lloyd-Jones D.M. Cardiovascular risk prediction: basic concepts, current status, and future directions. Circulation 2010, 121:1768-1777.
95. Dunstan D., Zimmet P., Welborn T., et al. Diabesity & associated disorders in Australia-2000: the accelerating epidemic 2001, The Australian Diabetes, Obesity and Lifestyle Study, Melbourne.
96. Grundy S.M. Metabolic syndrome pandemic. Arterioscler Thromb Vasc Biol 2008, 28:629-636.
97. Thompson G.R. Recommendations for the use of LDL apheresis. Atherosclerosis 2008, 198:247-255. HEART-UK LDL Apheresis Working Group.
98. Rodenburg J., Vissers M.N., Wiegman A., Trip M.D., Bakker H.D., Kastelein J.J.P. Familial hypercholesterolaemia in children. Curr Opin Lipidol 2004, 15:405-411.
99. Kavey R.-E.W., Allada V., Daniels S.R., 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 2006, 114:2710-2738.
100. McCrindle B.W., Urbina E.M., Dennison B.A., et al. Drug therapy of high risk lipid abnormalities in children and adolescents. Circulation 2007, 115:1-20.
101. van der Graaf A., Kastelein J., Wiegman A. Heterozygous familial hypercholesterolaemia in childhood: cardiovascular risk prevention. J Inherit Metab Dis 2009, 32:699-705.
102. O'Gorman C., Higgins M., O'Neill M. Systematic review and metaanalysis of statins for heterozygous familial hypercholesterolemia in children: evaluation of cholesterol changes and side effects. Pediatr Cardiol 2009, 30:482-489.
103. de Jongh S., Lilien M.R., Bakker H.D., Hutten B.A., Kastelein J.J.P., Stroes E.S.G. Family history of cardiovascular events and endothelial dysfunction in children with familial hypercholesterolemia. Atherosclerosis 2002, 163:193-197.
104. Steinberg D., Glass C.K., Witztum J.L. Evidence mandating earlier and more aggressive treatment of hypercholesterolemia. Circulation 2008, 118:672-677.
105. Obarzanek E., Kimm S.Y., Barton B.A., et al. Long term safety and efficacy of a cholesterol lowering diet in children with elevated low density lipoprotein cholesterol: seven year results of the dietary intervention study in children (DISC). Paediatrics 2001, 107:256-264.
106. de Jongh S., Lilien M.R., op't Roodt J., Stroes E.S.G., Bakker H.D., Kastelein J.J.P. Early statin therapy restores endothelial function in children with familial hypercholesterolemia. J Am Coll Cardiol 2002, 40:2117-2121.
107. Avis H.J., Vissers M.N., Stein E.A., et al. A systematic review and meta-analysis of statin therapy in children with familial hypercholesterolemia. Arterioscler Thromb Vasc Biol 2007, 27:1803-1810.
108. Arambepola C., Farmer A.J., Perera R., Neil H.A.W. Statin treatment for children and adolescents with heterozygous familial hypercholesterolaemia: a systematic review and meta-analysis. Atherosclerosis 2007, 195:339-347.
109. Rodenburg J., Vissers M.N., Wiegman A., et al. Statin treatment in children with familial hypercholesterolemia: the younger, the better. Circulation 2007, 116:664-668.
110. Vuorio A., Kuoppala J., Kovanen P.T., et al. Statins for children with familial hypercholesterolemia. Cochrane Database Syst Rev 2010, (7). Art. No.: CD006401.
111. van Maarle M.C., Stouthard M.E.A., Bonsel G.J. Quality of life in a family based genetic cascade screening programme for familial hypercholesterolaemia: a longitudinal study among participants. J Med Genet 2003, 40. e3-e.
112. Burton H., Alberg C., Stewart A. Heart to heart: inherited cardiovascular conditions services. A needs assessment and service review 2009, PHG Foundation, Available from:. http://www.phgfoundation.org/reports/4986/.
113. Humphries S.E., Galton D., Nicholls P. Genetic testing for familial hypercholesterolaemia: practical and ethical issues. Q J Med 1997, 90:169-181.
114. Humphries S.E., Whittall R.A., Hubbart C.S., et al. Genetic causes of familial hypercholesterolaemia in patients in the UK: relation to plasma lipid levels and coronary heart disease risk. J Med Genet 2006, 43:943-949.
115. World Health Organization Review of ethical issues in medical genetics 2003, World Health Organisation, Geneva.
116. European Society of Human Genetics Genetic testing in asymptomatic minors: recommendations of the European Society of Human Genetics. Eur J Hum Genet 2009, 17:720-721.
117. Human Genetics Society of Australasia Position statement: pre-symptomatic and predictive testing in children and young people 2008, Available from:, [25 January 2011]. http://www.hgsa.org.au/2009/12/pre-symptomatic-and-predictive-testing-in-children-and-young-people/.
118. Australian Government Department of Health and Ageing PBS-eligibility criteria for lipid lowering drugs fact sheet 2006, Canberra. Available from:, [March 2010]. http://www.health.gov.au/internet/main/publishing.nsf/content/lipid_eligibilitycriteria.htm.
119. Benlian P., Turquet A., Carrat F., et al. Diagnosis scoring for clinical identification of children with heterozygous familial hypercholesterolemia. J Pediatr Gastroenterol Nutr 2009, 48:456-463.
120. van der Graaf A., Avis H.J., Kusters D.M., et al. Molecular basis of autosomal dominant hypercholesterolemia: assessment in a large cohort of hypercholesterolemic children. Circulation 2011, 123:1167-1173.
121. Newson A.J., Humphries S.E. Cascade testing in familial hypercholesterolaemia: How should family members be contacted?. Eur J Hum Genet 2005, 13:401-408.
122. Suthers G.K., Armstrong J., McCormack J., Trott D. Letting the family know: balancing ethics and effectiveness when notifying relatives about genetic testing for a familial disorder. J Med Genet 2006, 43:665-670.
123. Human Genetics Society of Australasia Process of genetic counselling 2008, Available from:, [25 January 2011]. http://www.hgsa.org.au/2009/12/process-of-genetic-counselling/.
124. Urbina E.M., Williams R.V., Alpert B.S., 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 2009, 54:919-950.
125. Ose L. Diagnostic, clinical, and therapeutic aspects of familial hypercholesterolemia in children. Semin Vasc Med 2004, 4:51-57.
126. Tonstad S. Stratification of risk in children with familial hypercholesterolemia with focus on psychosocial issues. Nutr Metab Cardiovasc Dis 2001, 11(Suppl 5):64-67.
127. American Diabetes Association Standards of medical care in diabetes-2010. Diabetes Care 2010, 33:S11-S61.
128. Chobanian A.V., Bakris G.L., Black H.R., et al. Seventh report of the joint national committee on prevention, detection, evaluation, and treatment of high blood pressure. Hypertension 2003, 42:1206-1252.
129. National Heart Foundation of Australia (National Blood Pressure and Vascular Disease Advisory Committee) Guide to management of hypertension 2008 2010, Updated December. Available from:. http://www.heartfoundation.org.au/SiteCollectionDocuments/A_Hypert_Guidelines2008_2010Update_FINAL.pdf.
130. Robinson J.G., Goldberg A.C. Treatment of adults with familial hypercholesterolemia and evidence for treatment: recommendations from the National Lipid Association Expert Panel on Familial Hypercholesterolemia. J Clin Lipidol 2011, 5:S18-S29.
131. Ito M.K., McGowan M.P., Moriarty P.M. Management of familial hypercholesterolemias in adult patients: recommendations from the National Lipid Association Expert Panel on Familial Hypercholesterolemia. J Clin Lipidol 2011, 5:S38-S45.
132. Cooper A., O'Flynn N. Risk assessment and lipid modification for primary and secondary prevention of cardiovascular disease: summary of NICE guidance. Br Med J 2008, 336:1246-1248. on behalf of the Guideline Development Group.
133. Connor W.E., Connor S.L. Importance of diet in the treatment of familial hypercholesterolemia. Am J Cardiol 1993, 72:D42-D53.
134. Lichtenstein A.H., Appel L.J., Brands M., et al. Diet and lifestyle recommendations revision 2006: a scientific statement from the American Heart Association Nutrition Committee. Circulation 2006, 114:82-96.
135. Gidding S.S., Lichtenstein A.H., Faith M.S., 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 2009, 119:1161-1175.
136. Moruisi K.G., Oosthuizen W., Opperman A.M. Phytosterols/stanols lower cholesterol concentrations in familial hypercholesterolemic subjects: a systematic review with meta-analysis. J Am Coll Nutr 2006, 25:41-48.
137. Artinian N.T., Fletcher G.F., Mozaffarian D., 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 2010, 122:406-441.
138. Rozanski A., Blumenthal J.A., Kaplan J. Impact of psychological factors on the pathogenesis of cardiovascular disease and implications for therapy. Circulation 1999, 99:2192-2217.
139. Pharmaceutical Management Agency (PHARMAC) Pharmaceutical schedule 2011, Available from:. http://www.pharmac.govt.nz/2011/03/01/Schedule.pdf.
140. Baigent C., Keech A., Kearney P.M., et al. Efficacy and safety of cholesterol-lowering treatment: prospective meta-analysis of data from 90,056 participants in 14 randomised trials of statins. Lancet 2005, 366:1267-1278.
141. Brugts J.J., Yetgin T., Hoeks S.E., et al. The benefits of statins in people without established cardiovascular disease but with cardiovascular risk factors: meta-analysis of randomised controlled trials. Br Med J 2009, 338:b2376.
142. Efficacy and safety of more intensive lowering of LDL cholesterol: a meta-analysis of data from 170 000 participants in 26 randomised trials. Lancet 2010, 376:1670-1681. Cholesterol Treatment Trialists' (CTT) Collaboration.
143. Ward S., Lloyd-Jones M., Pandor A., et al. A systematic review and economic evaluation of statins for the prevention of coronary events. Health Technol Assess 2007, 11:1-160.
144. Scientific Steering Committee, Simon Broome Register Group Mortality in treated heterozygous familial hypercholesterolaemia: implications for clinical management. Atherosclerosis 1999, 142:105-112.
145. Versmissen J., Oosterveer D.M., Yazdanpanah M., et al. Efficacy of statins in familial hypercholesterolaemia: a long term cohort study. Br Med J 2008, 337:a2423.
146. Neil A., Cooper J., Betteridge J., 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 2008, 29:2625-2633.
147. Harada-Shiba M., Sugisawa T., Makino H., et al. Impact of statin treatment on the clinical fate of heterozygous familial hypercholesterolemia. J Atheroscler Thromb 2010, 17:667-674.
148. Smilde T.J., van Wissen S., Wollersheim H., Trip M.D., Kastelein J.J., Stalenhoef A.F. Effect of aggressive versus conventional lipid lowering on atherosclerosis progression in familial hypercholesterolaemia (ASAP): a prospective, randomised, double-blind trial. Lancet 2001, 357:577-581.
149. Alonso R., Fernandez de Bobadilla J., Mendez I., Lazaro P., Mata N. Cost-effectiveness of managing familial hypercholesterolemia using atorvastatin-based preventive therapy. Rev Esp Cardiol 2008, 61:382-393.
150. Nherera L., Calvert N.W., DeMott K., 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 2010, 26:529-536.
151. National Institute for Health and Clinical Excellence Ezetimibe for the treatment of primary (heterozygous-familial and non-familial) hypercholesterolaemia 2010, Available from: guidance.nice.org.uk/nicemedia/live/11886/38213/38213.doc.
152. Hamilton-Craig I., Kostner K., Colquhoun D., Woodhouse S. Combination therapy of statin and ezetimibe for the treatment of familial hypercholesterolaemia. Vasc Health Risk Manag 2010, 6:1023-1037.
153. Toth P.P. Drug treatment of hyperlipidaemia: a guide to the rational use of lipid-lowering drugs. Drugs 2010, 70:1363-1379.
154. Chapman M.J., Redfern J.S., McGovern M.E., Giral P. Niacin and fibrates in atherogenic dyslipidemia: pharmacotherapy to reduce cardiovascular risk. Pharmacol Ther 2010, 126:314-345.
155. Guyton J.R., Goldgerg A.C. Bile acid sequestrants. Clinical lipidology: a companion to Braunwald's heart disease 2009, 281-314. Saunders, Elsevier, Philadelphia. C.M. Ballantyne (Ed.).
156. Huijgen R., Abbink E.J., Bruckert E., et al. Colesevelam added to combination therapy with a statin and ezetimibe in patients with familial hypercholesterolemia: a 12-week, multicenter, randomized, double-blind, controlled trial. Clin Ther 2010, 32:615-625.
157. Kane J.P., Malloy M.J., Ports T.A., Phillips N.R., Diehl J.C., Havel R.J. Regression of coronary atherosclerosis during treatment of familial hypercholesterolemia with combined drug regimens. J Am Med Assoc 1990, 264:3007-3012.
158. Davidson M.H., Armani A., McKenney J.M., Jacobson T.A. Safety considerations with fibrate therapy. Am J Cardiol 2007, 99:S3-S18.
159. Watts G.F., Karpe F. Triglycerides and atherogenic dyslipidaemia: extending treatment beyond statins in the high-risk cardiovascular patient. Heart 2011, 97:350-356.
160. Miller M., Stone N.J., Ballantyne C., et al. Triglycerides and cardiovascular disease: a scientific statement from the American Heart Association. Circulation 2011, 123(May):2292-2333.
161. Chapman M.J., Ginsberg H.N., Amarenco P., 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 2011.
162. Saravanan P., Davidson N.C., Schmidt E.B., Calder P.C. Cardiovascular effects of marine omega-3 fatty acids. Lancet 2010, 376:540-550.
163. Bays H. Rationale for prescription omega-3-acid ethyl ester therapy for hypertriglyceridemia: a primer for clinicians. Drugs Today (Barc) 2008, 44:205-246.
164. Yamashita S., Matsuzawa Y. Where are we with probucol: a new life for an old drug?. Atherosclerosis 2009, 207:16-23.
165. Bottorff M.B. Statin safety and drug interactions: clinical implications. Am J Cardiol 2006, 97:S27-S31.
166. McKenney J.M., Davidson M.H., Jacobson T.A., Guyton J.R. Final conclusions and recommendations of the National Lipid Association Statin Safety Assessment Task Force. Am J Cardiol 2006, 97:S89-S94.
167. Guyton J.R., Bays H.E. Safety considerations with niacin therapy. Am J Cardiol 2007, 99:S22-S31.
168. Lee J.K., Grace K.A., Taylor A.J. Effect of a pharmacy care program on medication adherence and persistence, blood pressure, and low-density lipoprotein cholesterol. J Am Med Assoc 2006, 296:2563-2571.
169. Elliott R., Barber N., Clifford S., Horne R., Hartley E. The cost effectiveness of a telephone-based pharmacy advisory service to improve adherence to newly prescribed medicines. Pharm World Sci 2008, 30:17-23.
170. Eussen S.R., van der Elst M.E., Klungel O.H., et al. A pharmaceutical care program to improve adherence to statin therapy: a randomized controlled trial. Ann Pharmacother 2010, 44:1905-1913.
171. Choudhry N.K., Fischer M.A., Avorn J., et al. The implications of therapeutic complexity on adherence to cardiovascular medications. Arch Intern Med 2011, E1-E9.
172. Bates T.R., Connaughton V.M., Watts G.F. Non-adherence to statin therapy: a major challenge for preventive cardiology. Expert Opin Pharmacother 2009, 10:2973-2985.
173. Senior V., Marteau T., Weinman J. Self-reported adherence to cholesterol-lowering medication in patients with familial hypercholesterolaemia: the role of illness perceptions. Cardiovasc Drugs Ther 2004, 18:475-481.
174. Scott T.L., Gazmararian J.A., Williams M.V., Baker D.W. Health literacy and preventive health care use among Medicare enrollees in a managed care organization. Med Care 2002, 40:395-404.
175. Chew L.D., Bradley K.A., Boyko E.J. Brief questions to identify patients with inadequate health literacy. Fam Med 2004, 36:588-594.
176. Roth G.A., Fihn S.D., Mokdad A.H., Aekplakorn W., Hasegawa T., Lim S.S. High total serum cholesterol, medication coverage and therapeutic control: an analysis of national health examination survey data from eight countries. Bull World Health Organ 2011, 89:92-101.
177. Simons L.A., Oritz M., Calcino G. Long term persistence with statin therapy: experience in Australia 2006-2010. Aust Fam Physician 2011, 40:319-322.
178. Carrington M.J., Retegan C., Johnston C.I., Jennings G.L., Stewart S. Cholesterol complacency in Australia: time to revisit the basics of cardiovascular disease prevention. J Clin Nurs 2009, 18:678-686.
179. Carrington M.J., Stewart S. Australia's cholesterol crossroads: an analysis of 199,331 GP patient records 2011, Baker IDI Heart and Diabetes Institute, Melbourne, Australia, Available from:. http://www.bakeridi.edu.au/Assets/Files/Australia's%20Cholesterol%20Crossroads%20Report_FINAL.pdf.
180. Kotseva K., Wood D., De Backer G., et al. Euroaspire III. Management of cardiovascular risk factors in asymptomatic high-risk patients in general practice: cross-sectional survey in 12 European countries. Eur J Cardiovasc Prev Rehabil 2010, 17:530-540.
181. Vale M., Jelinek M.V., Best J.D. How many patients with coronary heart disease are not achieving their risk-factor targets? Experience in Victoria 1996-1998 versus 1999-2000. Med J Aust 2002, 176:211-215. on behalf of the COACH study group.
182. Kotseva K., Wood D., De Backer G., De Bacquer D., Pyörälä K., Keil U. Euroaspire III. A survey on the lifestyle, risk factors and use of cardioprotective drug therapies in coronary patients from 22 European countries. Eur J Cardiovasc Prev Rehabil 2009, 16:121-137.
183. Bruckert E., Hayem G., Dejager S., Yau C., Bégaud B. Mild to moderate muscular symptoms with high-dosage statin therapy in hyperlipidemic patients the PRIMO Study. Cardiovasc Drugs Ther 2005, 19:403-414.
184. Bays H., Dujovne C. Colesevelam HCl: a non-systemic lipid altering drug. Expert Opin Pharmacother 2003, 4:779-790.
185. Spence J.D., Hackam D.G. Treating arteries instead of risk factors: a paradigm change in management of atherosclerosis. Stroke 2010, 41:1193-1199.
186. Rothwell P.M. Endarterectomy for symptomatic and asymptomatic carotid stenosis. Neurol Clin 2008, 26:1079-1097.
187. Brott T.G., Halperin J.L., Abbara S., Bacharach J.M., Barr J.D., Bush R.L., et al. 2011 ASA/ACCF/AHA/AANN/AANS/ACR/ASNR/CNS/SAIP/SCAI/SIR/SNIS/SVM/SVS guideline on the management of patients with extracranial carotid and vertebral artery disease: a report of the American College of Cardiology Foundation/American Heart Association Task Force on Practice Guidelines, and the American Stroke Association, American Association of Neuroscience Nurses, American Association of Neurological Surgeons, American College of Radiology, American Society of Neuroradiology, Congress of Neurological Surgeons, Society of Atherosclerosis Imaging and Prevention, Society for Cardiovascular Angiography and Interventions, Society of Interventional Radiology, Society of NeuroInterventional Surgery, Society for Vascular Medicine, and Society for Vascular Surgery. Circulation 2011, 123:1-77.
188. Thorogood M., Seed M., De Mott K. Management of fertility in women with familial hypercholesterolaemia: summary of NICE guidance. Br J Obstet Gynaecol 2009, 116:478-479. Guideline Development Group.
189. van der Graaf A., Hutten B.A., Kastelein J.J., Vissers M.N. Premature cardiovascular disease in young women with heterozygous familial hypercholesterolemia. Expert Rev Cardiovasc Ther 2006, 4:345-351.
190. Nenseter M.S., Lindvig H.W., Ueland T., et al. Lipoprotein(a) levels in coronary heart disease-susceptible and -resistant patients with familial hypercholesterolemia. Atherosclerosis 2011, March 2 [Epub ahead of print].
191. Avis H.J., Hutten B.A., Twickler M.T., et al. Pregnancy in women suffering from familial hypercholesterolemia: a harmful period for both mother and newborn?. Curr Opin Lipidol 2009, 20:484-490.
192. Kusters D.M., Homsma S.J.M., Hutten B.A., et al. Dilemmas in treatment of women with familial hypercholesterolaemia during pregnancy. Neth J Med 2010, 68:299-303.
193. van der Graaf A., Vissers M.N., Gaudet D., et al. Dyslipidemia of mothers with familial hypercholesterolemia deteriorates lipids in adult offspring. Arterioscler Thromb Vasc Biol 2010, 30:2673-2677.
194. Geraedts J.P.M., De Wert G.M.W.R. Preimplantation genetic diagnosis. Clin Genet 2009, 76:315-325.
195. Barlow-Stewart K., Saleh M., Parasivam G. FS17(c): prenatal testing-CVS & amniocentesis 2007, Centre for Genetics Education, Sydney, [18 January 2011]. http://www.genetics.com.au/pdf/factsheets/fs17c.pdf.
196. Amundsen A.L., Ose L., Nenseter M.S., Ntanios F.Y. Plant sterol ester-enriched spread lowers plasma total and LDL cholesterol in children with familial hypercholesterolemia. Am J Clin Nutr 2002, 76:338-344.
197. Amundsen A.L., Ntanios F., van der Put N., Ose L. Long-term compliance and changes in plasma lipids, plant sterols and carotenoids in children and parents with FH consuming plant sterol ester-enriched spread. Eur J Clin Nutr 2004, 58:1612-1620.
198. de Jongh S., Kerckhoffs M.C., Grootenhuis M.A., Bakker H.D., Heymans H.S.A., Last B.F. Quality of life, anxiety and concerns among statin-treated children with familial hypercholesterolaemia and their parents. Acta Paediatr 2003, 92:1096-1101.
199. van der Graaf A., Cuffie-Jackson C., Vissers M.N., et al. Efficacy and safety of coadministration of ezetimibe and simvastatin in adolescents with heterozygous familial hypercholesterolemia. J Am Coll Cardiol 2008, 52:1421-1429.
200. Clauss S., Wai K.-M., Kavey R.-E.W., Kuehl K. Ezetimibe treatment of pediatric patients with hypercholesterolemia. J Pediatr 2009, 154:869-872.
201. Stein E.A., Marais A.D., Szamosi T., et al. Colesevelam hydrochloride: efficacy and safety in pediatric subjects with heterozygous familial hypercholesterolemia. J Pediatr 2010, 156. 231-6.e3.
202. Monthly Index of Medical Specialities Australia MIMS online 2010. (data version: March 2010), New South Wales, Australia 2010, Available from: www-mimsonline-com-au.rplibresources.health.wa.gov.au.
203. Wiegman A., Hutten B.A., de Groot E., et al. Efficacy and safety of statin therapy in children with familial hypercholesterolemia: a randomized controlled trial. J Am Med Assoc 2004, 292:331-337.
204. Avis H.J., Hutten B.A., Gagne C., et al. Efficacy and safety of rosuvastatin therapy for children with familial hypercholesterolemia. J Am Coll Cardiol 2010, 55:1121-1126.
205. McCrindle B.W., Ose L., Marais A.D. Efficacy and safety of atorvastatin in children and adolescents with familial hypercholesterolemia or severe hyperlipidemia: a multicenter, randomized, placebo-controlled trial. J Pediatr 2003, 143:74-80.
206. Engler M., Engler M., Malloy M., et al. Docosahexaenoic acid restores endothelial function in children with hyperlipidemia: results from the early study. Int J Clin Pharmacol Ther 2004, 42:672-679.
207. Wierzbicki A.S., Viljoen A. Hyperlipidaemia in paediatric patients: the role of lipid-lowering therapy in clinical practice. Drug Saf 2010, 33:115-125.
208. Juonala M., Magnussen C.G., Venn A., et al. Influence of age on associations between childhood risk factors and carotid intima-media thickness in adulthood: the Cardiovascular Risk in Young Finns Study, the Childhood Determinants of Adult Health Study, the Bogalusa Heart Study, and the Muscatine Study for the International Childhood Cardiovascular Cohort (i3C) Consortium. Circulation 2010, 122:2514-2520.
209. Pletcher M.J., Bibbins-Domingo K., Liu K., et al. Nonoptimal lipids commonly present in young adults and coronary calcium later in life: the CARDIA (Coronary Artery Risk Development in Young Adults) Study. Ann Intern Med 2010, 153:137-146.
210. Dawood O.T., Izham M., Ibrahim M., Palaian S. Medication compliance among children. World J Pediatr 2010, 6:200-202.
211. Hill M., Pawsey M., Cutler A., Holt J.L., Goldfield S.R. Consensus standards for the care of children and adolescents in Australian health services. Med J Aust 2011, 194:78-82.
212. Hudgins L.C., Kleinman B., Scheuer A., White S., Gordon B.R. Long-term safety and efficacy of low-density lipoprotein apheresis in childhood for homozygous familial hypercholesterolemia. Am J Cardiol 2008, 102:1199-1204.
213. Viner R. Barriers and good practice in transition from paediatric to adult care. J R Soc Med 2001, 94:2-4.
214. Thompson G.R. LDL apheresis. Atherosclerosis 2003, 167:1-13.
215. Thompsen J., Thompson P.D. A systematic review of LDL apheresis in the treatment of cardiovascular disease. Atherosclerosis 2006, 189:31-38.
216. Hudgins L.C., Gordon B.R., Parker T.S., Saal S.D., Levine D.M., Rubin A.L. LDL apheresis: an effective and safe treatment for refractory hypercholesterolemia. Cardiovasc Drug Rev 2002, 20:271-280.
217. Thompson G.R., Barbir M., Davies D., et al. Efficacy criteria and cholesterol targets for LDL apheresis. Atherosclerosis 2010, 208:317-321.
218. Thompson G.R., Catapano A., Saheb S., et al. Severe hypercholesterolaemia: therapeutic goals and eligibility criteria for LDL apheresis in Europe. Curr Opin Lipidol 2010, 21:492-498.
219. Szczepiorkowski Z., Bandarenko N., Kim H., 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 2007, 22:106-175.
220. Mabuchi H., Koizumi J., Shimizu M., et al. Long-term efficacy of low-density lipoprotein apheresis on coronary heart disease in familial hypercholesterolemia. Am J Cardiol 1998, 82:1489-1495.
221. Aengevaeren W.R.M., Kroon A.A., Stalenhoef A.F.H., Uijen G.J.H., Van Der Werf T. Low density lipoprotein apheresis improves regional myocardial perfusion in patients with hypercholesterolemia and extensive coronary artery disease: the LDL-Apheresis Atherosclerosis Regression Study (LAARS). J Am Coll Cardiol 1996, 28:1696-1704.
222. Marais A.D., Firth J.C., Blom D.J. Homozygous familial hypercholesterolemia and its management. Semin Vasc Med 2004, 4(43):50.
223. Cashin-Hemphill L., Noone M., Abbott J.F., Waksmonski C.A., Lees R.S. Low-density lipoprotein apheresis therapy during pregnancy. Am J Cardiol 2000, 86:1160.
224. Anedda S., Mura S., Marcello C., Pintus P. HELP LDL-apheresis in two cases of familial hypercholesterolemic pregnant women. Transfus Apher Sci 2011, 44:21-24.
225. HEART UK Lipid Specialist Sub-Committee. LDL apheresis 2009, Available from:. http://www.heartuk.org.uk/ldl/.
226. Nemati M.H., Astaneh B. Optimal management of familial hypercholesterolemia: treatment and management strategies. Vasc Health Risk Manag 2010, 6:1079-1088.
227. Kakaei F., Nikeghbalian S., Kazemi K., et al. Liver transplantation for homozygous familial hypercholesterolemia: two case reports. Transplant Proc 2009, 41:2939-2941.
228. Moini M., Mistry P., Schilsky M.L. Liver transplantation for inherited metabolic disorders of the liver. Curr Opin Organ Tran 2010, 15:269-276.
229. Goldberg A.C. Novel therapies and new targets of treatment for familial hypercholesterolemia. J Clin Lipidol 2010, 4:350-356.
230. Visser M.E., Kastelein J.J., Stroes E.S. Apolipoprotein B synthesis inhibition: results from clinical trials. Curr Opin Lipidol 2010, 21:319-323.
231. Duff C.J., Hooper N.M. PCSK9: an emerging target for treatment of hypercholesterolemia. Expert Opin Ther Targets 2011, 15:157-168.
232. Moghadasian M., Frohlich J., Saleem M., Hong J., Qayumi K., Scudamore C. Surgical management of dyslipidemia: clinical and experimental evidence. J Invest Surg 2001, 14:71-78.
233. Buchwald H., Rudser K.D., Williams S.E., Michalek V.N., Vagasky J., Connett J.E. Overall mortality, incremental life expectancy, and cause of death at 25 years in the program on the surgical control of the hyperlipidemias. Ann Surg 2010, 251:1034-1040.
234. Al-Allaf F., Coutelle C., Waddington S., David A., Harbottle R., Themis M. LDLR-gene therapy for familial hypercholesterolaemia: problems, progress, and perspectives. Int Arch Med 2010, 3:36.
235. Marks D., Wonderling D., Thorogood M., Lambert H., Humphries S.E., Neil H.A.W. Screening for hypercholesterolaemia versus case finding for familial hypercholesterolaemia: a systematic review and cost-effectiveness analysis. Health Technol Assess 2000, 4:1-123.
236. Wonderling D., Umans-Eckenhausen M.A.W., Marks D., Defesche J.C., Kastelein J.J.P., Thorogood M. Cost-effectiveness analysis of the genetic screening program for familial hypercholesterolaemia in the Netherlands. Semin Vasc Med 2004, 4:97-104.
237. Oliva J., López-Bastida J., Moreno S.G., Mata P., Alonso R. Cost-effectiveness analysis of a genetic screening program in the close relatives of Spanish patients with familial hypercholesterolemia. Rev Esp Cardiol 2009, 62:57-65.
238. Marang-van de Mheen P.J., ten Asbroek A.H.A., Bonneux L., Bonsel G.J., Klazinga N.S. Cost-effectiveness of a family and DNA based screening programme on familial hypercholesterolaemia in the Netherlands. Eur Heart J 2002, 23:1922-1930.
239. Human Genetics Society of Australasia Presymptomatic and predictive testing for genetic disorders 2005, Available from:, [25 January 2011]. http://www.hgsa.org.au/2009/12/presymptomatic-and-predictive-testing-for-genetic-disorders/.
240. Forrest L.E., Delatycki M.B., Skene L., Aitken M. Communicating genetic information in families-a review of guidelines and position papers. Eur J Hum Genet 2007, 15:612-618.
241. National Health and Medical Research Council (NHMRC), Office of the Privacy Commissioner Use and disclosure of genetic information to a patient's genetic relatives under section 95AA of the Privacy Act 1988 (cth): guidelines for health practitioners in the private sector 2009, NHMRC, Available from:. http://www.nhmrc.gov.au/_files_nhmrc/file/publications/synopses/e96.pdf.
242. Royal College of Physicians, Royal College of Pathologists, British Society for Human Genetics Consent and confidentiality in genetic practice: guidance on genetic testing and sharing genetic information. Report of the Joint Committee on Medical Genetics 2005, RCP/RCPath/BSHG, London.
243. Saleh M., Barlow-Stewart K., Meiser B., Muchamore I. Challenges faced by genetics service providers' practicing in a culturally and linguistically diverse population: an Australian experience. J Genet Couns 2009, 18:436-446.
244. Progeny Progeny Clinical 8 2011, Available from:. http://www.progenygenetics.com/clinical.
245. PASS Clinical PASS Clinical vascular. Rijswijk, Netherlands 2011, Available from:. http://www.pass-software.com/.
246. Maxwell S.J., Molster C.M., Poke S.J., O'leary P. Communicating familial hypercholesterolemia genetic information within families. Gen Test Mol Bioma 2009, 13:301-306.
247. Clarke A., Martin R., Kerzin-Storrar L., et al. Genetic professionals' reports of nondisclosure of genetic risk information within families. Eur J Hum Genet 2005, 13:556-562.
248. Suthers G.K., McCusker E.A., Wake S.A. Alerting genetic relatives to a risk of serious inherited disease without a patient's consent. Med J Aust 2011, 194:385-386.
249. Greco K.E., Salveson C. Identifying genetics and genomics nursing competencies common among published recommendations. J Nurs Educ 2009, 48:557-565.
250. Leren T.P., Finborud T.H., Manshaus T.E., Ose L., Berge K.E. Diagnosis of familial hypercholesterolemia in general practice using clinical diagnostic criteria or genetic testing as part of cascade genetic screening. Community Genet 2008, 11:26-35.
251. Burke W., Emery J. Genetics education for primary-care providers. Nat Rev Genet 2002, 3:561-566.
252. Cardiff University Wales familial hypercholesterolaemia testing service: FH family forum 2010, Available from:, [17 February 2010]. http://www.fhwales.co.uk/.
253. FH Family Support Group. Available from: [31 March 2011]. http://www.fhfamilysupportgroup.websyte.com.au/.
254. Fleury J., Keller C., Perez A., Lee S. The role of lay health advisors in cardiovascular risk reduction: a review. Am J Community Psychol 2009, 44:28-42.
255. Australian Government Privacy Legislation Amendment Act 2006 2006, Available from:, [6 April 2011]. http://www.comlaw.gov.au/Details/C2006A00099.
256. Marang-van de Mheen P.J., van Maarle M.C., Stouthard M.E.A. Getting insurance after genetic screening on familial hypercholesterolaemia; the need to educate both insurers and the public to increase adherence to national guidelines in the Netherlands. J Epidemiol Community Health 2002, 56:145-147.
257. Otlowski M.F.A., Stranger M.J.A., Barlow-Stewart K., Taylor S., Treloar S. Investigating genetic discrimination in the Australian life insurance sector: the use of genetic test results in underwriting, 1999-2003. J Law Med 2007, 14:367-396.
258. Human Genetics Society of Australasia Position statement: genetic testing and life insurance in Australia 2008, Available from:, [25 January 2011]. http://www.hgsa.org.au/2009/12/genetic-testing-and-life-insurance-in-australia/.
259. Neil H.A., Mant D. Cholesterol screening and life assurance. Br Med J 1991, 302:891-893.
260. Neil H.A.W., Hammond T., Mant D., Humphries S.E. Effect of statin treatment for familial hypercholesterolaemia on life assurance: results of consecutive surveys in 1990 and 2002. Br Med J 2004, 328:500-501.
261. Financial Services Council FSC standard no. 11. Genetic testing policy 2005, http://www.ifsa.com.au/downloads/file/FSCStandards/11S_GeneticTestingPolicy.pdf.
262. Alonso R., Defesche J.C., Tejedor D., et al. Genetic diagnosis of familial hypercholesterolemia using a DNA-array based platform. Clin Biochem 2009, 42:899-903.
263. Taylor A., Wang D., Patel K., et al. Mutation detection rate and spectrum in familial hypercholesterolaemia patients in the UK pilot cascade project. Clin Genet 2010, 77:572-580.
264. Lombardi M.P., Redeker E.J.W., van Gent D.H.M., Smeele K.L., Weederstein R., Mannens M.M. Molecular genetic testing for familial hypercholesterolaemia in the Netherlands: a stepwise screening strategy enhances the mutation detection rate. Genet Test 2006, 10:77-84.
265. DNA Genotek Oragene DNA 2011, Kanata, Ontario, Canada, [15 March 2011]. http://www.dnagenotek.com/.
266. National Pathology Accreditation Advisory Council (NPAAC) Draft requirements for medical testing of human nucleic acids-public consultation 2010, Australian Government, Department of Health and Ageing, Canberra. 1st ed. 20xx.
267. Brice P. PGD for familial hypercholesterolaemia approved 2007, PHG Foundation, London, [25 January 2011]. http://www.phgfoundation.org/news/3947/.
268. National Association of Testing Authorities Australia (NATA) Medical testing accreditation 2009 2009, Available from:, [25 January 2011]. http://www.nata.asn.au/types-of-accreditation.
269. Leigh S.E.A., Foster A.H., Whittall R.A., Hubbart C.S., Humphries S.E. Update and analysis of the University College London Low Density Lipoprotein Receptor Familial Hypercholesterolemia Database. Ann Hum Genet 2008, 72:485-498.
270. Dedoussis G.V.Z., Schmidt H., Genschel J. LDL-receptor mutations in Europe. Hum Mutat 2004, 24:443-459.
271. Marduel M., Carrié A., Sassolas A., et al. Molecular spectrum of autosomal dominant hypercholesterolemia in France. Hum Mutat 2010, 31:E1811-E1824.
272. Laurie A.D., Scott R.S., George P.M. Genetic screening of patients with familial hypercholesterolaemia (FH): a New Zealand perspective. Atherosclerosis Suppl 2004, 5:13-15.
273. Civeira F., Jarauta E., Cenarro A., et al. Frequency of low-density lipoprotein receptor gene mutations in patients with a clinical diagnosis of familial combined hyperlipidemia in a clinical setting. J Am Coll Cardiol 2008, 52:1546-1553.
274. Kwiterovich P.O. Clinical implications of the molecular basis of familial hypercholesterolemia and other inherited dyslipidemias. Circulation 2011, 123:1153-1155.
275. Defesche J.C., Lansberg P.J., Umans-Eckenhausen M.A., Kastelein J.J. Advanced method for the identification of patients with inherited hypercholesterolemia. Semin Vasc Med 2004, 4:59-65.
276. Taylor A., Martin B., Wang D., Patel K., Humphries S.E., Norbury G. Multiplex ligation-dependent probe amplification analysis to screen for deletions and duplications of the LDLR gene in patients with familial hypercholesterolaemia. Clin Genet 2009, 76:69-75.
277. Holla Ø.L., Teie C., Berge K.E., Leren T.P. Identification of deletions and duplications in the low density lipoprotein receptor gene by MLPA. Clin Chim Acta 2005, 356:164-171.
278. Chiou K.-R., Charng M.-J., Chang H.-M. Array-based resequencing for mutations causing familial hypercholesterolemia. Atherosclerosis 2011, March 2 [Epub ahead of print].
279. Dusková L., Kopecková L., Jansová E., et al. An apex-based genotyping microarray for the screening of 168 mutations associated with familial hypercholesterolemia. Atherosclerosis 2011, 216:139-145.
280. Mamotte C., van Bockxmeer F. A robust strategy for screening and confirmation of familial defective apolipoprotein B-100. Clin Chem 1993, 39:118-121.
281. Newton C.R., Graham A., Heptinstall L.E., et al. Analysis of any point mutation in DNA. The amplification refractory mutation system (ARMS). Nucleic Acids Res 1989, 17:2503-2516.
282. Taylor A., Tabrah S., Wang D., et al. analysis to detect 13 common mutations in familial hypercholesterolaemia. Clin Genet 2007, 71:561-568.
283. Progenika LIPOchip. Vizcaya, Spain 2011, Available from:. http://www.progenika.com/eu/index.php?option=com_content&task=view&id=138&Itemid=18.
284. Gen-Probe Elucigene FH20. Abingdon, Oxfordshire, United Kingdom 2011, Available from:. http://www.gen-probe.com/global/products-services/cardiovascular.aspx.
285. MRC-Holland SALSA MLPA kit P062. Amsterdam, Netherlands 2011, Available from:. http://www.mlpa.com/.
286. CLC-Bio CLC Main Workbench. Aarhus, Denmark 2011, Available from:. http://www.clcbio.com/index.php?id=92.
287. Interactive Biosoftware Alamut. Rouen, France 2011, Available from:. http://www.interactive-biosoftware.com/alamut.html.
288. University College London Low density lipoprotein receptor familial hypercholesterolemia database. London, United Kingdom 2011, Available from:. http://www.ucl.ac.uk/ldlr/Current/index.php?select_db=LDLR.
289. Bourbon M., Duarte M.A., Alves A.C., Medeiros A.M., Marques L., Soutar A.K. Genetic diagnosis of familial hypercholesterolaemia: the importance of functional analysis of potential splice-site mutations. J Med Genet 2009, 46:352-357.
290. Goldberg A.C., Robinson J.G., Cromwell W.C., Ross J.L., Ziajka P.E. Future issues, public policy, and public awareness of familial hypercholesterolemias: recommendations from the National Lipid Association Expert Panel on Familial Hypercholesterolemia. J Clin Lipidol 2011, 5:S46-S51.
291. Aatre R.D., Day S.M. Psychological issues in genetic testing for inherited cardiovascular diseases. Circ Cardiovasc Genet 2011, 4:81-90.
292. Hadfield S.G., Horara S., Starr B.J., 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 2008, 45:199-205.
293. Neubeck L., Redfern J., Fernandez R., Briffa T., Bauman A., Freedman S.B. Telehealth interventions for the secondary prevention of coronary heart disease: a systematic review. Eur J Cardiovasc Prev Rehabil 2009, 16:281-289.
294. Clark C.E., Smith L.F.P., Taylor R.S., Campbell J.L. Nurse led interventions to improve control of blood pressure in people with hypertension: systematic review and meta-analysis. Br Med J 2010, 341:c3995.
295. Loveman E., Frampton G.K., Clegg A.J. The clinical effectiveness of diabetes education models for type 2 diabetes: a systematic review. Health Technol Assess 2008, 12:1-116.
296. Haralambos K. " PASS Clinical" software for familial hypercholesterolaemia (FH): evaluation report including 3 month clinical pilot 2009, Available from:. http://www.heartuk.org.uk/FHToolkit/.
297. Braithwaite J., Travaglia J.F. An overview of clinical governance policies, practices and initiatives. Aust Health Rev 2008, 32:10-22.
298. Evans S.M., Bohensky M., Cameron P.A., McNeil J. A survey of Australian clinical registries: can quality of care be measured?. Intern Med J 2011, 41:42-48.
299. Ingles J., McGaughran J., Vohra J., et al. Establishment of an Australian national genetic heart disease registry. Heart Lung Circ 2008, 17:463-467.
300. World Health Organization Building blocks for action innovative care for chronic conditions: global report 2002.
301. Coleman K., Austin B.T., Brach C., Wagner E.H. Evidence on the chronic care model in the new millennium. Health Aff (Millwood) 2009, 28:75-85.
302. Fisk N.M., Wesselingh S.L., Beilby J.J., et al. Academic health science centres in Australia: let's get competitive. Med J Aust 2011, 194:59-60.
303. Pedersen K.M.V., Humphries S.E., Roughton M., Besford J.S. The national audit of the management of familial hypercholesterolaemia 2010: full report 2010, Clinical Standards Department, Royal College of Physicians, Available from:. http://www.rcplondon.ac.uk/node/2584.