Cascade screening for familial hypercholesterolemia (FH)

PLoS Currents

Volumn , Issue , 2011, Pages

  Ned, Renée M ^a   Sijbrands, Eric ^b  

^a NATIONAL CENTER ON BIRTH DEFECTS AND DEVELOPMENTAL DISABILITIES   (United States)

^b ERASMUS MEDICAL CENTER   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

DNA; LOW DENSITY LIPOPROTEIN CHOLESTEROL; APOLIPOPROTEIN B; CHOLESTEROL;

ARTICLE; CARDIOVASCULAR MORTALITY; CARDIOVASCULAR RISK; CASCADE SCREENING; EARLY DIAGNOSIS; FAMILIAL HYPERCHOLESTEROLEMIA; GENE MUTATION; GENETIC SCREENING; GENOTYPE PHENOTYPE CORRELATION; HEART DISEASE; HETEROZYGOTE; HUMAN; MORBIDITY; PRACTICE GUIDELINE; SCREENING; ATHEROSCLEROTIC CARDIOVASCULAR DISEASE; COST EFFECTIVENESS ANALYSIS; DEATH; DISEASE SEVERITY; FAMILY HISTORY; FOLLOW UP; GENETIC ANALYSIS; GENETIC MARKER; HEREDITY; ISCHEMIC HEART DISEASE; MORTALITY; PREVALENCE; PUBLIC HEALTH; RANDOMIZED CONTROLLED TRIAL (TOPIC); RISK REDUCTION; SENSITIVITY AND SPECIFICITY; XANTHOMA;

EID: 84857619617     PISSN: None     EISSN: 21573999     Source Type: Journal    
DOI: 10.1371/currents.RRN1238     Document Type: Article

References (63)

1. Austin MA, Hutter CM, Zimmern RL, Humphries SE. Genetic causes of monogenic heterozygous familial hypercholesterolemia: a HuGE prevalence review. Am J Epidemiol. 2004 Sep 1;160(5):407-20 Review PubMed PMID: 15321837
2. Austin MA, Hutter CM, Zimmern RL, Humphries SE. Familial hypercholesterolemia and coronary heart disease: a HuGE association review. Am J Epidemiol. 2004 Sep 1;160(5):421-9 Review PubMed PMID: 15321838
3. DeMott, K, Nherera L, Shaw EJ, Minhas R, Humphries SE, Kathoria M, Ritchie G, Nunes V, Davies D, Lee P, McDowell I, Neil A, Qureshi N, Rowlands P, Seed M, Stracey H, Thorogood M, Watson M. Clinical Guidelines and Evidence Review for Familial hypercholesterolaemia: the identification and management of adults and children with familial hypercholesterolaemia. 2008. London: National Collaborating Centre for Primary Care and Royal College of General Practitioners
4. Neil A, Cooper J, Betteridge J, Capps N, McDowell I, Durrington P, Seed M, Humphries SE. Reductions in allcause, cancer, and coronary mortality in statin-treated patients with heterozygous familial hypercholesterolaemia: a prospective registry study. Eur Heart J. 2008 Nov;29(21):2625-33. Epub 2008 Oct 7 PubMed PMID: 18840879; PubMed Central PMCID: PMC2577142
5. Jansen AC, van Aalst-Cohen ES, Tanck MW, Trip MD, Lansberg PJ, Liem AH, van Lennep HW, Sijbrands EJ, Kastelein JJ. The contribution of classical risk factors to cardiovascular disease in familial hypercholesterolaemia: data in 2400 patients. J Intern Med. 2004 Dec;256(6):482-90 PubMed PMID: 15554949
6. Jansen AC, van Wissen S, Defesche JC, Kastelein JJ. Phenotypic variability in familial hypercholesterolaemia: an update. Curr Opin Lipidol. 2002 Apr;13(2):165-71 Review PubMed PMID: 11891419
7. World Health Organization (WHO). Familial Hypercholesterolaemia (FH): Report of a second WHO Consultation. 1999. Geneva
8. Neil HA, Hammond T, Huxley R, Matthews DR, Humphries SE. Extent of underdiagnosis of familial hypercholesterolaemia in routine practice: prospective registry study. BMJ. 2000 Jul 15;321(7254):148 PubMed PMID: 10894692; PubMed Central PMCID: PMC27432
9. Williams RR, Hamilton-Craig I, Kostner G, Hegele RA, Hayden MR, et al. MEDPED: An Integrated Genetic Strategy for Preventing Early Deaths. Berg K, Boulyjenkov, V, Christen, Y (editors). Genetic Approaches to Noncommunicable Diseases. 1996. Berlin: Springer Verlag. pp. 35-46
10. Hopkins PN. Defining the challenges of familial hypercholesterolemia screening: introduction. J Clin Lipidol. 2010 Sep-Oct;4(5):342-5 Epub 2010 Aug 20 PubMed PMID: 21122675
11. Marks D, Wonderling D, Thorogood M, Lambert H, Humphries SE, Neil HA. Screening for hypercholesterolaemia versus case finding for familial hypercholesterolaemia: a systematic review and costeffectiveness analysis. Health Technol Assess. 2000;4(29):1-123 Review PubMed PMID: 11109029
12. Marks D, Wonderling D, Thorogood M, Lambert H, Humphries SE, Neil HA. Cost effectiveness analysis of different approaches of screening for familial hypercholesterolaemia. BMJ. 2002 Jun 1;324(7349):1303 PubMed PMID: 12039822; PubMed Central PMCID: PMC113765
13. Datta BN, McDowell IF, Rees A. Integrating provision of specialist lipid services with cascade testing for familial hypercholesterolaemia. Curr Opin Lipidol. 2010 Aug;21(4):366-71 Review PubMed PMID: 20613514
14. Defesche JC, Lansberg PJ, Umans-Eckenhausen MA, Kastelein JJ. Advanced method for the identification of patients with inherited hypercholesterolemia. Semin Vasc Med. 2004 Feb;4(1):59-65 Review PubMed PMID: 15199434
15. Umans-Eckenhausen MA, Defesche JC, Sijbrands EJ, Scheerder RL, Kastelein JJ Review of first 5 years of screening for familial hypercholesterolaemia in the Netherlands. Lancet. 2001 Jan 20;357(9251):165-8 PubMed PMID: 11213091
16. Hamilton-Craig I. Case-finding for familial hypercholesterolemia in the Asia-Pacific region. Semin Vasc Med. 2004 Feb;4(1):87-92 PubMed PMID: 15199437
17. Leren TP, Manshaus T, Skovholt U, Skodje T, Nossen IE, Teie C, Sørensen S, Bakken KS. Application of molecular genetics for diagnosing familial hypercholesterolemia in Norway: results from a family-based screening program. Semin Vasc Med. 2004 Feb;4(1):75-85 Review PubMed PMID: 15199436
18. Marais AD, Firth JC, Blom DJ. Familial hypercholesterolemia in South Africa. Semin Vasc Med. 2004 Feb;4(1):93-5 PubMed PMID: 15199438
19. Pocovi M, Civeira F, Alonso R, Mata P. Familial hypercholesterolemia in Spain: case-finding program, clinical and genetic aspects. Semin Vasc Med. 2004 Feb;4(1):67-74 Review PubMed PMID: 15199435
20. Thorsson B, Sigurdsson G, Gudnason V. Systematic family screening for familial hypercholesterolemia in Iceland. Arterioscler Thromb Vasc Biol. 2003 Feb 1;23(2):335-8 PubMed PMID: 12588780
21. Watts GF, van Bockxmeer FM, Bates T, Burnett JR, 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 Jul;19(7):419-22. Epub 2010 Apr 3 PubMed PMID: 20363671
22. National Institute for Health and Clinical Excellence. Identification and management of familial hypercholesterolaemia. NICE clinical guideline CG71
23. Goldberg AC, Hopkins PN, Toth PP, Ballantyne CM, Rader DJ, Robinson JG, Daniels SR, Gidding SS, de Ferranti SD, Ito MK, McGowan MP, Moriarty PM, Cromwell WC, Ross JL, Ziajka PE. 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 Jun;5(Suppl.3):S1-8 Epub 2011 Apr 12 PubMed PMID: 21600525
24. Hopkins PN, Toth PP, Ballantyne CM, Rader DJ. Familial hypercholesterolemias: prevalence, genetics, diagnosis and screening recommendations from the National Lipid Association Expert Panel on Familial Hypercholesterolemia. J Clin Lipidol. 2011 Jun;5(3 Suppl.):S9-17. Epub 2011 Apr 3 PubMed PMID: 21600530
25. Developed with the special contribution of: European Association for Cardiovascular Prevention & Rehabilitation; Authors/Task Force Members, Reiner Z, Catapano AL, De Backer G, Graham I, Taskinen MR, Wiklund O, Agewall S, Alegria E, Chapman MJ, Durrington P, Erdine S, Halcox J, Hobbs R, Kjekshus J, Filardi PP, Riccardi G, Storey RF, Wood D; ESC Committee for Practice Guidelines (CPG) 2008-2010 and 2010-2012 Committees, Bax J, Vahanian A, Auricchio A, Baumgartner H, Ceconi C, Dean V, Deaton C, Fagard R, Filippatos G, Funck-Brentano C, Hasdai D, Hobbs R, Hoes A, Kearney P, Knuuti J, Kolh P, McDonagh T, Moulin C, Poldermans D, Popescu BA, Reiner Z, Sechtem U, Sirnes PA, Tendera M, Torbicki A, Vardas P, Widimsky P, Windecker S; Document Reviewers:, Funck-Brentano C, Poldermans D, Berkenboom G, De Graaf J, Descamps O, Gotcheva N, Griffith K, Guida GF, Gulec S, Henkin Y, Huber K, Kesaniemi YA, Lekakis J, Manolis AJ, Marques-Vidal P, Masana L, McMurray J, Mendes M, Pagava Z, Pedersen T, Prescott E, Rato Q, Rosan G, Sans S, Stalenhoef A, Tokgozoglu L, Viigimaa M, Wittekoek ME, Zamorano JL. 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. 2011 Jun 28. [Epub ahead of print] PubMed PMID: 21712404
26. Humphries SE, Norbury G, Leigh S, Hadfield SG, Nair D. What is the clinical utility of DNA testing in patients with familial hypercholesterolaemia? Curr Opin Lipidol. 2008 Aug;19(4):362-8 Review PubMed PMID: 18607183
27. Varret M, Abifadel M, Rabès JP, Boileau C. Genetic heterogeneity of autosomal dominant hypercholesterolemia. Clin Genet. 2008 Jan;73(1):1-13. Epub 2007 Nov 16 Review PubMed PMID: 18028451
28. Huijgen R, Kindt I, Fouchier SW, Defesche JC, Hutten BA, Kastelein JJ, Vissers MN. Functionality of sequence variants in the genes coding for the low-density lipoprotein receptor and apolipoprotein B in individuals with inherited hypercholesterolemia. Hum Mutat. 2010 Jun;31(6):752-60 PubMed PMID: 20506408
29. Leren TP. Cascade genetic screening for familial hypercholesterolemia. Clin Genet. 2004 Dec;66(6):483-7 Review PubMed PMID: 15521974
30. Leren TP, Finborud TH, Manshaus TE, Ose L, Berge KE. Diagnosis of familial hypercholesterolemia in general practice using clinical diagnostic criteria or genetic testing as part of cascade genetic screening. Community Genet. 2008;11(1):26-35. Epub 2008 Jan 15 PubMed PMID: 18196915
31. Damgaard D, Larsen ML, Nissen PH, Jensen JM, Jensen HK, Soerensen VR, Jensen LG, Faergeman O. The relationship of molecular genetic to clinical diagnosis of familial hypercholesterolemia in a Danish population. Atherosclerosis. 2005 May;180(1):155-60. Epub 2005 Jan 12 PubMed PMID: 15823288
32. Humphries SE, Cranston T, Allen M, Middleton-Price H, Fernandez MC, Senior V, Hawe E, Iversen A, Wray R, Crook MA, Wierzbicki AS. Mutational analysis in UK patients with a clinical diagnosis of familial hypercholesterolaemia: relationship with plasma lipid traits, heart disease risk and utility in relative tracing. J Mol Med. 2006 Mar;84(3):203-14. Epub 2005 Dec 31 PubMed PMID: 16389549
33. Huijgen R, Kindt I, Verhoeven SB, Sijbrands EJ, Vissers MN, Kastelein JJ, Hutten BA. Two years after molecular diagnosis of familial hypercholesterolemia: majority on cholesterol-lowering treatment but a minority reaches treatment goal. PLoS One. 2010 Feb 15;5(2):e9220 PubMed PMID: 20169164; PubMed Central PMCID: PMC2821409.
34. Versmissen J, Oosterveer DM, Yazdanpanah M, Defesche JC, Basart DC, Liem AH, Heeringa J, Witteman JC, Lansberg PJ, Kastelein JJ, Sijbrands EJ. Efficacy of statins in familial hypercholesterolaemia: a long term cohort study. BMJ. 2008 Nov 11;337:a2423 doi: 10.1136/bmj.a2423 PubMed PMID: 19001495; PubMed Central PMCID: PMC2583391
35. Austin MA, Zimmern RL, Humphries SE. High population attributable fraction for coronary heart disease mortality among relatives in monogenic familial hypercholesterolemia. Genet Med. 2002 Jul-Aug;4(4):275-8 PubMed PMID: 12172393
36. Arambepola C, Farmer AJ, Perera R, Neil HA. Statin treatment for children and adolescents with heterozygous familial hypercholesterolaemia: a systematic review and meta-analysis. Atherosclerosis. 2007 Dec;195(2):339-47. Epub 2006 Nov 13 Review PubMed PMID: 17097660
37. Avis HJ, Vissers MN, Stein EA, Wijburg FA, Trip MD, Kastelein JJ, Hutten BA. A systematic review and metaanalysis of statin therapy in children with familial hypercholesterolemia. Arterioscler Thromb Vasc Biol. 2007 Aug;27(8):1803-10. Epub 2007 Jun 14 Review PubMed PMID: 17569881
38. Haney EM, Huffman LH, Bougatsos C, Freeman M, Steiner RD, Nelson HD. Screening and treatment for lipid disorders in children and adolescents: systematic evidence review for the US Preventive Services Task Force. Pediatrics. 2007 Jul;120(1):e189-214 Review PubMed PMID: 17606543
39. O'Gorman CS, Higgins MF, O'Neill MB. Systematic review and metaanalysis of statins for heterozygous familial hypercholesterolemia in children: evaluation of cholesterol changes and side effects. Pediatr Cardiol. 2009 May;30(4):482-9. Epub 2009 Feb 3 Review PubMed PMID: 19189168
40. Shafiq N, Bhasin B, Pattanaik S, Pandhi P, Venkateshan SP, Singh M, Malhotra S. A meta-analysis to evaluate the efficacy of statins in children with familial hypercholesterolemia. Int J Clin Pharmacol Ther. 2007 Oct;45(10):548-55. Erratum in: Int J Clin Pharmacol Ther. 2008 Jan;46(1):41 PubMed PMID: 17966840
41. Vuorio A, Kuoppala J, Kovanen PT, Humphries SE, Strandberg T, Tonstad S, Gylling H. Statins for children with familial hypercholesterolemia. Cochrane Database Syst Rev. 2010 Jul 7;(7):CD006401 Review PubMed PMID: 20614444
42. Calonge N, Guirguis-Blake J. Screening for familial hypercholesterolaemia. BMJ. 2007 Sep 22;335(7620):573-4 PubMed PMID: 17884865; PubMed Central PMCID: PMC1988985
43. Rodenburg J, Vissers MN, Wiegman A, van Trotsenburg AS, van der Graaf A, de Groot E, Wijburg FA, Kastelein JJ, Hutten BA. Statin treatment in children with familial hypercholesterolemia: the younger, the better. Circulation. 2007 Aug 7;116(6):664-8 Epub 2007 Jul 30 PubMed PMID: 17664376
44. van der Graaf A, Kastelein JJ, Wiegman A. Heterozygous familial hypercholesterolaemia in childhood: cardiovascular risk prevention. J Inherit Metab Dis. 2009 Dec;32(6):699-705. Epub 2009 Oct 31 Review PubMed PMID: 19898954
45. Wiegman A, de Groot E, Hutten BA, Rodenburg J, Gort J, Bakker HD, Sijbrands EJ, Kastelein JJ. Arterial intimamedia thickness in children heterozygous for familial hypercholesterolaemia. Lancet. 2004 Jan 31;363(9406):369-70 PubMed PMID: 15070569
46. Guardamagna O, Restagno G, Rolfo E, Pederiva C, Martini S, Abello F, Baracco V, Pisciotta L, Pino E, Calandra S, Bertolini S. The type of LDLR gene mutation predicts cardiovascular risk in children with familial hypercholesterolemia. J Pediatr. 2009 Aug;155(2):199-204+e2 Epub 2009 May 15 PubMed PMID: 19446849
47. Goldberg AC, Robinson JG, Cromwell WC, Ross JL, Ziajka PE. 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 Jun;5(3 Suppl):S46-51 Epub 2011 Apr 8PubMed PMID: 21600529
48. US Preventive Services Task Force. Screening for lipid disorders in children: US Preventive Services Task Force recommendation statement. Pediatrics. 2007 Jul;120(1):e215-9 PubMed PMID: 17606545
49. Daniels SR. Screening for familial hypercholesterolemia: what is the most effective strategy? Nat Clin Pract Cardiovasc Med. 2008 Mar;5(3):130-1. Epub 2007 Dec 4 PubMed PMID: 18059381
50. Daniels SR, Greer FR; Committee on Nutrition. Lipid screening and cardiovascular health in childhood. Pediatrics. 2008 Jul;122(1):198-208 Review PubMed PMID: 18596007
51. Jenssen BP, Jacobson MS. Screening adolescents for lipid disorders: what is the best approach? Adolesc Med State Art Rev. 2008 Dec;19(3):507-20, x Review PubMed PMID: 19227389
52. McCrindle BW, Urbina EM, Dennison BA, Jacobson MS, Steinberger J, Rocchini AP, Hayman LL, Daniels SR; American Heart Association Atherosclerosis, Hypertension, and Obesity in Youth Committee; American Heart Association Council of Cardiovascular Disease in the Young; American Heart Association Council on Cardiovascular Nursing. Drug therapy of high-risk lipid abnormalities in children and adolescents: a scientific statement from the American Heart Association Atherosclerosis, Hypertension, and Obesity in Youth Committee, Council of Cardiovascular Disease in the Young, with the Council on Cardiovascular Nursing. Circulation. 2007 Apr 10;115(14):1948-67. Epub 2007 Mar 21 PubMed PMID: 17377073
53. Daniels SR, Gidding SS, de Ferranti SD. Pediatric aspects of familial hypercholesterolemias: recommendations from the National Lipid Association Expert Panel on Familial Hypercholesterolemia. J Clin Lipidol. 2011 Jun;5(3 Suppl):S30-7. Epub 2011 Apr 5 PubMed PMID: 21600527
54. Koeijvoets KC, Wiegman A, Rodenburg J, Defesche JC, Kastelein JJ, Sijbrands EJ. Effect of low-density lipoprotein receptor mutation on lipoproteins and cardiovascular disease risk: a parent-offspring study. Atherosclerosis. 2005 May;180(1):93-9 Epub 2004 Dec 19 PubMed PMID: 15823280
55. Koeijvoets KC, Rodenburg J, Hutten BA, Wiegman A, Kastelein JJ, Sijbrands EJ. Low-density lipoprotein receptor genotype and response to pravastatin in children with familial hypercholesterolemia: substudy of an intima-media thickness trial. Circulation. 2005 Nov 15;112(20):3168-73 PubMed PMID: 16286607
56. Souverein OW, Defesche JC, Zwinderman AH, Kastelein JJ, Tanck MW. Influence of LDL-receptor mutation type on age at first cardiovascular event in patients with familial hypercholesterolaemia. Eur Heart J. 2007 Feb;28(3):299-304. Epub 2006 Nov 7 PubMed PMID: 17090611
57. Sijbrands EJ, Westendorp RG, Paola Lombardi M, Havekes LM, Frants RR, Kastelein JJ, Smelt AH. Additional risk factors influence excess mortality in heterozygous familial hypercholesterolaemia. Atherosclerosis. 2000 Apr;149(2):421-5 PubMed PMID: 10729393
58. Umans-Eckenhausen MA, Sijbrands EJ, Kastelein JJ, Defesche JC. Low-density lipoprotein receptor gene mutations and cardiovascular risk in a large genetic cascade screening population. Circulation. 2002 Dec 10;106(24):3031-6 PubMed PMID: 12473547
59. Kavey RE, Allada V, Daniels SR, Hayman LL, McCrindle BW, Newburger JW, Parekh RS, Steinberger J; American Heart Association Expert Panel on Population and Prevention Science; American Heart Association Council on Cardiovascular Disease in the Young; American Heart Association Council on Epidemiology and Prevention; American Heart Association Council on Nutrition, Physical Activity and Metabolism; American Heart Association Council on High Blood Pressure Research; American Heart Association Council on Cardiovascular ursing; American Heart Association Council on the Kidney in Heart Disease; Interdisciplinary Working Group on Quality of Care and Outcomes Research. Cardiovascular risk reduction in high-risk pediatric patients: a scientificstatement 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 Nursi g, and the Kidney in Heart Disease; and the Interdisciplinary Working Group on Quality of Care and Outcomes Research: endorsed by the American Academy of Pediatrics. Circulation. 2006 Dec 12;114(24):2710-38 Epub 2006 Nov 27 Review PubMed PMID: 17130340
60. Shafiq N, Singh M, Kaur S, Khosla P, Malhotra S. Dietary treatment for familial hypercholesterolaemia. Cochrane Database Syst Rev. 2010 Jan 20;(1):CD001918 Review PubMed PMID: 20091526
61. Hadfield SG, Horara S, Starr BJ, Yazdgerdi S, Marks D, Bhatnagar D, Cramb R, Egan S, Everdell R, Ferns G, Jones A, Marenah CB, Marples J, Prinsloo P, Sneyd A, Stewart MF, Sandle L, Wang T, Watson MS, Humphries SE; Steering Group for the Department of Health Familial Hypercholesterolaemia Cascade Testing Audit Project. 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 Jan;46(Pt 1):24-32. Epub 2008 Nov 21 PubMed PMID: 19028807
62. Newson AJ, Humphries SE. Cascade testing in familial hypercholesterolaemia: how should family members be contacted? Eur J Hum Genet. 2005 Apr;13(4):401-8 Review PubMed PMID: 15657617
63. Hopkins PN. Encouraging appropriate treatment for familial hypercholesterolemia. Clin Lipidol. 2010; 5:339-354