PubMed Health. A service of the National Library of Medicine, National Institutes of Health.

Sharma P, Boyers D, Boachie C, et al. Elucigene FH20 and LIPOchip for the Diagnosis of Familial Hypercholesterolaemia: A Systematic Review and Economic Evaluation. Southampton (UK): NIHR Journals Library; 2012 Mar. (Health Technology Assessment, No. 16.17.)

Appendix 7List of excluded studies

Not a required reference standard (APOB or PCSK9 or deletion/duplication only)

  1. Cantafora A, Blotta I, Pino E, Pisciotta L, Calandra S, Bertolini S. Quantitative polymerase chain reaction and microchip electrophoresis to detect major rearrangements of the low-density lipoprotein receptor gene causing familial hypercholesterolemia. Electrophoresis. 2004;25:3882–9. [PubMed: 15565673]
  2. Garcia-Garcia AB, Blesa S, Martinez-Hervas S, Mansego ML, Gonzalez-Albert V, Ascaso JF, et al. Semiquantitative multiplex PCR: a useful tool for large rearrangement screening and characterization. Hum Mutat. 2006;27:822–8. [PubMed: 16791839]
  3. Garcia-Otin AL, Strunk M, Pueyo M, Solanas M, Fiddyment S, Aceves M, et al. Screening for PCSK9 mutations in Spanish patients with autosomal dominant hypercholesterolemia unrelated to LDLR or APOB. Atheroscler Suppl. 2009;10:e1228.
  4. Goldmann R, Tichy L, Freiberger T, Zapletalova P, Letocha O, Soska V, et al. Genomic characterization of large rearrangements of the LDLR gene in Czech patients with familial hypercholesterolemia. BMC Med Genet. 2010;11:115. [PMC free article: PMC2923121] [PubMed: 20663204]
  5. Heath KE, Day INM, Humphries SE. Universal primer quantitative fluorescent multiplex (UPQFM) PCR: a method to detect major and minor rearrangements of the low density lipoprotein receptor gene. J Med Genet. 2000;37:272–80. [PMC free article: PMC1734566] [PubMed: 10745045]
  6. Holla OL, Teie C, Berge KE, Leren TP. Identification of deletions and duplications in the low density lipoprotein receptor gene by MLPA. Clin Chim Acta. 2005;356:164–71. [PubMed: 15936313]
  7. Kalina A, Csaszar A, Czeizel AE, Romics L, Szaboki F, Szalai C, et al. Frequency of the R3500Q mutation of the apolipoprotein B-100 gene in a sample screened clinically for familial hypercholesterolemia in Hungary. Atherosclerosis. 2001;154:247–51. [PubMed: 11137107]
  8. Liyanage KE, Hooper AJ, Defesche JC, Burnett JR, Van Bockxmeer FM. High-resolution melting analysis for detection of familial ligand-defective apolipoprotein B-100 mutations. Ann Clin Biochem. 2008;45:170–6. [PubMed: 18325181]
  9. Merino-Ibarra E, Castillo S, Mozas P, Cenarro A, Martorell E, Diaz JL, et al. Screening of APOB gene mutations in subjects with clinical diagnosis of familial hypercholesterolemia. Hum Biol. 2005;77:663–73. [PubMed: 16596945]
  10. Meshkov A, Stambolsky D, Malyshev P, Kotkina T, Boitsov S, Kukharchuk V. The prevalence of apolipoprotein B-100 gene mutations in Russian familial hypercholesterolemia patients. Atheroscler Suppl. 2009;10:e990.
  11. Taylor A, Martin B, Wang D, Patel K, Humphries SE, 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. [PubMed: 19538517]

Case report

  1. Taylor A, Bayly G, Patel K, Yarram L, Williams M, Hamilton-Shield J, et al. A double heterozygote for familial hypercholesterolaemia and familial defective apolipoprotein B-100. Ann Clin Biochem. 2010;47:5–90. [PubMed: 20736250]

Single test (comprehensive genetic analysis) or insufficient/not usable data to allow calculation of test performance

  1. Alonso R, Mata N, Castillo S, Fuentes F, Saenz P, Muniz O, et al. Cardiovascular disease in familial hypercholesterolaemia: influence of low-density lipoprotein receptor mutation type and classic risk factors. Atherosclerosis. 2008;200:315–21. [PubMed: 18243212]
  2. Alves A, Medeiros A, Francisco V, Bourbon M. Familial hypercholesterolaemia: a perspective of 10 years of study in Portugal. Atherosclerosis. 2009;10:e1219.
  3. Alves AC, Medeiros AM, Francisco V, Gaspar IM, Rato Q, Bourbon M. Molecular diagnosis of familial hypercholesterolemia: an important tool for cardiovascular risk stratification. Rev Port Cardiol. 2010;29:907–21. [PubMed: 20964105]
  4. Arraiz N, Bermudez V, Rondon N, Reyes F, Borjas L, Solis E, et al. Novel mutations identification in exon 4 of LDLR gene in patients with moderate hypercholesterolemia in a Venezuelan population. Am J Ther. 2010;17:325–9. [PubMed: 20019594]
  5. Bertolini S, Cantafora A, Averna M, Cortese C, Motti C, Martini S, et al. Clinical expression of familial hypercholesterolemia in clusters of mutations of the LDL receptor gene that cause a receptor-defective or receptor-negative phenotype. Arterioscler Thromb Vasc Biol. 2000;20:E41–52. [PubMed: 10978268]
  6. Bhatnagar D, Morgan J, Siddiq S, Mackness MI, Miller JP, Durrington PN. Outcome of case finding among relatives of patients with known heterozygous familial hypercholesterolaemia. BMJ. 2000;321:1497–500. [PMC free article: PMC27551] [PubMed: 11118175]
  7. Blesa S, Garcia-Garcia AB, Martinez-Hervas S, Mansego ML, Gonzalez-Albert V, Ascaso JF, et al. Analysis of sequence variations in the LDL receptor gene in Spain: general gene screening or search for specific alterations? Clin Chem. 2006;52:1021–5. [PubMed: 16627557]
  8. Bourbon M, Rato Q. Portuguese familial hypercholesterolemia study: presentation of the study and preliminary results. Rev Port Cardiol. 2006;25:999–1013. [PubMed: 17274457]
  9. Bourbon M, Alves AC, Medeiros AM, Silva S, Soutar AK. Familial hypercholesterolaemia in Portugal. Atherosclerosis. 2008;196:633–42. [PubMed: 17765246]
  10. Briffaut D, Tounian P, Benlian P, Girardet J. Molecular-based diagnostic criteria of familial hypercholesterolemia in children with dominantly-inherited hypercholesterolemia. J Pediatr Gastroenterol Nutr. 2000;31:S209.
  11. Brusgaard K, Jordan P, Hansen H, Hansen AB, Horder M. Molecular genetic analysis of 1053 Danish individuals with clinical signs of familial hypercholesterolemia. Clin Genet. 2006;69:277–83. [PubMed: 16542394]
  12. Bunn CF, Lintott CJ, Scott RS, George PM. Comparison of SSCP and DHPLC for the detection of LDLR mutations in a New Zealand cohort. Hum Mutat. 2002;19:311. [PubMed: 11857755]
  13. Campagna F, Martino F, Bifolco M, Montali A, Martino E, Morrone F, et al. Detection of familial hypercholesterolemia in a cohort of children with hypercholesterolemia: results of a family and DNA-based screening. Atherosclerosis. 2008;196:356–64. [PubMed: 17196209]
  14. Cefalu AB, Emmanuele G, Marino G, Fiore B, Caldarella R, Vivona N, et al. Effectiveness of screening for known mutations in Sicilian patients with ‘probable’ familial hypercholesterolemia. Nutr Metab Cardiovasc Dis. 2001;11:394–400. [PubMed: 12055704]
  15. Charng MJ, Chiou KR, Chang HM, Cheng HM, Ye ZX, Lin SJ. Identification and characterization of novel low-density lipoprotein receptor mutations of familial hypercholesterolaemia patients in Taiwan. Eur J Clin Invest. 2006;36:866–74. [PubMed: 17087781]
  16. Chaves FJ, Real JT, Garcia-Garcia AB, Civera M, Armengod ME, Ascaso JF, et al. Genetic diagnosis of familial hypercholesterolemia in a South European outbreed population: influence of low-density lipoprotein (LDL) receptor gene mutations on treatment response to simvastatin in total, LDL, and high-density lipoprotein cholesterol. J Clin Endocrinol Metab. 2001;86:4926–32. [PubMed: 11600564]
  17. Chiou KR, Charng MJ. Detection of mutations and large rearrangements of the low-density lipoprotein receptor gene in Taiwanese patients with familial hypercholesterolemia. Am J Cardiol. 2010;105:1752–8. [PubMed: 20538126]
  18. Chmara M, Wasag B, Zuk M, Kubalska J, Wegrzyn A, Bednarska-Makaruk M, et al. Molecular characterization of Polish patients with familial hypercholesterolemia: novel and recurrent LDLR mutations. J Appl Genet. 2010;51:95–106. [PubMed: 20145306]
  19. Cohen H, Harats D, Wael N, Anikster Y, Mazor-Aronovitch K, Pinhas-Hamiel O. LDL receptor mutation in a druze kindred – clinical, biochemical and genetic characteristics. Atheroscler Suppl. 2009;10:e1222.
  20. Damgaard D, Nissen PH, Jensen LG, Nielsen GG, Stenderup A, Larsen ML, et al. Detection of large deletions in the LDL receptor gene with quantitative PCR methods. BMC Med Genet. 2005;6:15. [PMC free article: PMC1087844] [PubMed: 15842735]
  21. De Castro-Ors I, Palacios L, Pampn S, Plana N, Masana L, Stef M, et al. Functional analysis of LDLR promoter mutations associated with familial hypercholesterolemia. Atheroscler Suppl. 2010;11:112–3.
  22. Dedoussis GVZ, Skoumas J, Pitsavos C, Choumerianou DM, Genschel J, Schmidt H, et al. FH clinical phenotype in Greek patients with LDL-R defective vs. negative mutations. Eur J Clin Invest. 2004;34:402–9. [PubMed: 15200491]
  23. Defesche JC. Is molecular genetic testing for familial hypercholesterolemia cost effective and clinically useful? Atheroscler Suppl. 2006;7:19.
  24. Diakou M, Miltiadous G, Xenophontos S, Cariolou M, Elisaf M. Mutational analysis in northwestern Greece patients with clinical diagnosis of familial hypercholesterolemia. Atheroscler. 2009;10(Suppl.):e1224.
  25. Diakou M, Miltiadous G, Xenophontos S, Cariolou M, Heta N, Korita I, et al. Characterization of low density lipoprotein receptor (LDLR) gene mutations in Albania. Arch Med Sci. 2010;6:198–200. [PMC free article: PMC3281340] [PubMed: 22371747]
  26. Ejarque I, Real JT, Martinez-Hervas S, Chaves FJ, Blesa S, Garcia-Garcia AB, et al. Evaluation of clinical diagnosis criteria of familial ligand defective apoB 100 and lipoprotein phenotype comparison between LDL receptor gene mutations affecting ligand-binding domain and the R3500Q mutation of the apoB gene in patients from a South European population. Transl Res. 2008;151:162–7. [PubMed: 18279815]
  27. El MM, Ait CK, Chater R, Vallve JC, Bennis F, Hafidi A, et al. Familial hypercholesterolemia in Morocco: first report of mutations in the LDL receptor gene. J Hum Genet. 2003;48:199–203. [PubMed: 12730724]
  28. Emi M, Hirayama T, Tsuji M, Hata A. Novel mutations of the LDL receptor gene in familial hypercholesterolemia pedigrees in Hokkaido. In: Kita T, Yokode M, editors. Lipoprotein metabolism and atherogenesis. Springer Verlag; 2000. pp. 48–50.
  29. Fouchier SW, Defesche JC, Umans-Eckenhausen MAW, Kastelein JJP. The molecular basis of familial hypercholesterolemia in the Netherlands. Hum Genet. 2001;109:602–15. [PubMed: 11810272]
  30. Fouchier SW, Kastelein JJP, Defesche JC. Update of the molecular basis of familial hypercholesterolemia in The Netherlands. Hum Mutat. 2005;26:550–6. [PubMed: 16250003]
  31. Garcia-Garcia AB, Real JT, Puig O, Cebolla E, Marin-Garcia P, Martinez Ferrandis JI, et al. Molecular genetics of familial hypercholesterolemia in Spain: ten novel LDLR mutations and population analysis. Hum Mutat. 2001;18:458–9. [PubMed: 11668640]
  32. Graham CA, McIlhatton BP, Kirk CW, Beattie ED, Lyttle K, Hart P, et al. Genetic screening protocol for familial hypercholesterolemia which includes splicing defects gives an improved mutation detection rate. Atherosclerosis. 2005;182:331–40. [PubMed: 16159606]
  33. Guardamagna O, Restagno G, Rolfo E, Pederiva C, Martini S, Abello F, et al. The type of LDLR gene mutation predicts cardiovascular risk in children with familial hypercholesterolemia. J Pediatr. 2009;155:199–204. [PubMed: 19446849]
  34. Hadfield SG, Horara S, Starr BJ, Yazdgerdi S, Bhatnagar D, Cramb R, 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. [PubMed: 18325186]
  35. Hadfield SG, Horara S, Starr BJ, Yazdgerdi S, Marks D, Bhatnagar D, 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. [PubMed: 19028807]
  36. Heath KE, Humphries SE, Middleton-Price H, Boxer M. A molecular genetic service for diagnosing individuals with familial hypercholesterolaemia (FH) in the United Kingdom. Eur J Hum Genet. 2001;9:244–52. [PubMed: 11313767]
  37. Higgins S, Stay C, Duxbury N, Smit C. Validation of Elucigene QST*R, a QF-PCR Assay. J Med Genet. 2006;43:S102.
  38. Huijgen R, Kindt I, Fouchier S, Defesche J, Hutten B, Kastelein J, et al. Non-functionality of three LDL-R and APOB gene mutations that were assumed to cause familial hypercholesterolemia. Atheroscler Suppl. 2009;10:e1231.
  39. Huijgen R, Versmissen J, Oosterveer DM, Kindt I, Sijbrands EJG, Kastelein JJP. Efficacy of 15 years of genetic cascade screening for familial hypercholesterolemia in the Netherlands in prevention of coronary artery disease. Atheroscler Suppl. 2010;11:L6.
  40. Humphries SE, Cranston T, Allen M, Middleton-Price H, Fernandez MC, Senior V, et al. 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;84:203–14. [PubMed: 16389549]
  41. Humphries SE, Whittall RA, Hubbart CS, Maplebeck S, Cooper JA, Soutar AK, 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;43:943–9. [PMC free article: PMC2563208] [PubMed: 17142622]
  42. Jelassi A, Slimani A, Jguirim I, Najah M, Abid A, Boughamoura L, et al. Moderate phenotypic expression of familial hypercholesterolemia in Tunisia. Clin Chim Acta. 2010;411:735–8. [PubMed: 20144596]
  43. Junyent M, Mateo R, Gilabert R, Cofan M, Nunez I, Pocovi M, et al. Impact of LDL receptor mutational class on carotid atherosclerosis in familial hypercholesterolemia (FH) Atheroscler Suppl. 2009;10:e1232.
  44. Junyent M, Gilabert R, Jarauta E, Nunez I, Cofan M, Civeira F, et al. Impact of low-density lipoprotein receptor mutational class on carotid atherosclerosis in patients with familial hypercholesterolemia. Atherosclerosis. 2010;208:437–41. [PubMed: 19717150]
  45. Khoo KL, van Acker P, Defesche JC, Tan H, van De Kerkhof L, Heijnen-van Eijk SJ, et al. Low-density lipoprotein receptor gene mutations in a Southeast Asian population with familial hypercholesterolemia. Clin Genet. 2000;58:98–105. [PubMed: 11005141]
  46. Koeijvoets KCMC, Wiegman A, Rodenburg J, Defesche JC, Kastelein JJP, Sijbrands EJG. Effect of low-density lipoprotein receptor mutation on lipoproteins and cardiovascular disease risk: a parent–offspring study. Atherosclerosis. 2005;180:93–9. [PubMed: 15823280]
  47. Kuhrova V, Francova H, Zapletalova P, Freiberger T, Fajkusova L, Hrabincova E, et al. Spectrum of low density lipoprotein receptor mutations in Czech hypercholesterolemic patients. Hum Mutat. 2001;18:253. [PubMed: 11524740]
  48. Kuhrova V, Francova H, Zapletalova P, Freiberger T, Fajkusova L, Hrabincova E, et al. Spectrum of low density lipoprotein receptor mutations in Czech hypercholesterolemic patients. Hum Mutat. 2002;19:80. [PubMed: 11754108]
  49. Lagerstedt SA, Train LJ, Jordan K, Baudhuin LM. Full gene sequencing of the low density lipoprotein receptor (LDLR) gene for the clinical diagnosis of familial hypercholesterolemia. Clin Chem. 2007;53:C-151.
  50. Laurie AD, Scott RS, George PM. Genetic screening of patients with familial hypercholesterolaemia (FH): a New Zealand perspective. Atheroscler Suppl. 2004;5:13–15. [PubMed: 15556094]
  51. Leren TP, Manshaus TE, Berge KE. Application of genetic testing in cascade genetic screening for familial hypercholesterolemia. Atheroscler Suppl. 2005;6:178.
  52. Leren TP, Manshaus TE, Ose L, Berge KE. Application of genetic testing in cascade genetic screening for familial hypercholesterolemia. Atheroscler Suppl. 2006;7:36–7.
  53. Lind S, Rystedt E, Eriksson M, Wiklund O, Angelin B, Eggertsen G. Genetic characterization of Swedish patients with familial hypercholesterolemia: a heterogeneous pattern of mutations in the LDL receptor gene. Atherosclerosis. 2002;163:399–407. [PubMed: 12052488]
  54. Lindemayr AC, Dirisamer A, Schmidt H, Widhalm K. Familial hypercholesterolemia: diagnosis in childhood by means of DNA-analysis. Pediatr Res. 2000;47:206A.
  55. Liyanage K, Burnett J, Van BF. Detection of familial hypercholesterolaemia in a cohort of coronary heart disease patients in Western Australia. Atheroscler Suppl. 2009;10:e989.
  56. Lombardi MP, Redeker EJW, Defesche JC, Kamerling SW, Trip MD, Mannens MMAM, et al. Molecular genetic testing for familial hypercholesterolemia: spectrum of LDL receptor gene mutations in the Netherlands. Clin Genet. 2000;57:116–24. [PubMed: 10735632]
  57. Lombardi MP, Redeker EJW, Van Gent DHM, Smeele KL, Weerdesteijn R, Mannens MMAM. Molecular genetic testing for familial hypercholesterolemia in the Netherlands: a stepwise screening strategy enhances the mutation detection rate. Genet Test. 2006;10:77–84. [PubMed: 16792510]
  58. Mabuchi H, Nohara A, Noguchi T, Kobayashi J, Kawashiri MA, Tada H, et al. Usefulness of DNA analysis for the diagnosis of familial hypercholesterolemia (FH) and extraordinarily high frequency of FH in Japan. Atheroscler Suppl. 2010;11:115.
  59. Marduel M, Carrie A, Sassolas A, Devillers M, Carreau V, Di Filippo M, et al. Molecular spectrum of autosomal dominant hypercholesterolemia in France. Hum Mutat. 2010;31:E1811–24. [PMC free article: PMC3152176] [PubMed: 20809525]
  60. Marteau T, Senior V, Humphries SE, Bobrow M, Cranston T, Crook MA, et al. Psychological impact of genetic testing for familial hyperecholesterolemia within a previously aware population: a randomized controlled trial. Am J Med Genet. 2004;128A:285–93. [PubMed: 15216550]
  61. Mata P, Alonso R, Castillo S, Pocovi M. MEDPED and the Spanish familial hypercholesterolemia foundation. Atheroscler Suppl. 2002;2:9–11. [PubMed: 11923123]
  62. Medeiros AM, Alves AC, Francisco V, Bourbon M. Update of the Portuguese Familial Hypercholesterolaemia Study. Atherosclerosis. 2010;212:553–8. [PubMed: 20828696]
  63. Miltiadous G, Cariolou MA, Elisaf M. Familial hypercholesterolaemia: taking advantage of a founder effect for early diagnosis and treatment. Community Genet. 2001;4:123–4.
  64. Miltiadous G, Xenophontos S, Demetriou N, Bairaktari E, Seferiadis K, Cariolou M, et al. Familial hypercholesterolaemia in north-western Greece. Hellenic J Cardiol. 2004;45:299–304.
  65. Mozas P, Cenarro A, Civeira F, Castillo S, Ros E, Pocovi M. Mutation analysis in 36 unrelated Spanish subjects with familial hypercholesterolemia: identification of 3 novel mutations in the LDL receptor gene. Hum Mutat. 2000;15:483–4. [PubMed: 10790219]
  66. Mozas P, Castillo S, Tejedor D, Reyes G, Alonso R, Franco M, et al. Molecular characterization of familial hypercholesterolemia in Spain: identification of 39 novel and 77 recurrent mutations in LDLR. Hum Mutat. 2004;24:187. [PubMed: 15241806]
  67. Nauck MS, Koster W, Dorfer K, Eckes J, Scharnagl H, Gierens H, et al. Identification of recurrent and novel mutations in the LDL receptor gene in German patients with familial hypercholesterolemia. Hum Mutat. 2001;18:165–6. [PubMed: 11462246]
  68. Nicholls DP, Cather M, Byrne C, Graham CA, Young IS. Diagnosis of heterozygous familial hypercholesterolaemia in children. Int J Clin Pract. 2008;62:990–4. [PubMed: 18492057]
  69. Plewa R, Luczak M, Bolewski A, Wierzchowiecki J, Siminiak T. Detection of the lowdensity lipoprotein receptor and apolipoprotein B gene mutation of patients with familial hypercholesterolaemia using real time polymerase chain reaction and SYBER Green chemistry. Eur Heart J. 2003;24:459.
  70. Plewa R, Luczak M, Burchardt P, Bolewski A, Wierzchowiecki J, Siminiak T. Monogenic hypercholesterolaemias – an evaluation of apolipoprotein B100 and LDL receptor gene polymorphisms. Kardiol Pol. 2006;64:127–33. [PubMed: 16502360]
  71. Pocsai Z, Paragh G, Adany R. Multiplex PCR assay for screening deletions in the low density lipoprotein receptor gene. Clin Chim Acta. 2001;309:7–12. [PubMed: 11408000]
  72. Punzalan FE, Sy RG, Santos RS, Cutiongco EM, Gosiengfiao S, Fadriguilan E, et al. Low density lipoprotein-receptor (LDL-R) gene mutations among Filipinos with familial hypercholesterolemia. J Atheroscler Thromb. 2005;12:276–83. [PubMed: 16205024]
  73. Romano M, Di Taranto MD, D'Agostino MN, Marotta G, Gentile M, Abate G, et al. Identification and functional characterization of LDLR mutations in familial hypercholesterolemia patients from Southern Italy. Atherosclerosis. 2010;210:493–6. [PubMed: 20045108]
  74. Salazar LA, Hirata MH, Hirata RDC. Increasing the sensitivity of single-strand conformation polymorphism analysis of the LDLR gene mutations in Brazilian patients with familial hypercholesterolemia. Clin Chem Lab Med. 2002;40:441–5. [PubMed: 12113284]
  75. Shin JA, Kim SH, Kim UK, Chae JJ, Choe SJ, Namkoong Y, et al. Identification of four novel mutations of the low-density lipoprotein receptor gene in Korean patients with familial hypercholesterolemia. Clin Genet. 2000;57:225–9. [PubMed: 10782930]
  76. Sozen M, Whittall R, Humphries SE. Mutation detection in patients with familial hypercholesterolaemia using heteroduplex and single strand conformation polymorphism analysis by capillary electrophoresis. Atheroscler Suppl. 2004;5:7–11. [PubMed: 15556093]
  77. Sozen MM, Whittall R, Oner C, Tokatli A, Kalkanoglu HS, Dursun A, et al. The molecular basis of familial hypercholesterolaemia in Turkish patients. Atherosclerosis. 2005;180:63–71. [PubMed: 15823276]
  78. Sozen M, Whittall R, Webb MBT, Norbury G, Tabrah S, Taylor A, et al. An arms-based diagnostic kit for genetic testing for familial hypercholesterolemia in the UK. Atheroscler Suppl. 2006;7:129.
  79. Stef M, Palacios L, Viegas M, Tejedor D, Martinez A, Pocovi M, et al. A unique tool to detect LDLr, APOB and PCSK9 point mutations as well as copy number change in the LDLr gene. Atheroscler Suppl. 2009;10:e273.
  80. Stoll M, Esperon P, Raggio V, Lorenzo M. Molecular basis of familial hypercholesterolemia in Uruguay. Circulation. 2008;118:E398.
  81. Tabrah S, Tabrah S, Taylor A, Humphries SE, Norbury G. A strategy for molecular genetic mutation screening for familial hypercholesterolaemia. J Med Genet. 2005;42:S110.
  82. Takada D, Emi M, Ezura Y, Nobe Y, Kawamura K, Iino Y, et al. Interaction between the LDL-receptor gene bearing a novel mutation and a variant in the apolipoprotein A-II promoter: molecular study in a 1135-member familial hypercholesterolemia kindred. J Hum Genet. 2002;47:656–64. [PubMed: 12522687]
  83. Tarantino E, Mabille S, Bruniaux M, Descamps O. Molecular study of familial hypercholesterolemia in Belgium. Atheroscler Suppl. 2010;11:117.
  84. Ten Asbroek AHA, Marang-van de Mheen P, Defesche JC, Kastelein JJP, Gunning-Schepers LJ. Results from a family and DNA based active identification programme for familial hypercholesterolaemia. J Epidemiol Community Health. 2001;55:500–2. [PMC free article: PMC1731943] [PubMed: 11413180]
  85. Tennant S, Bell C, Brown C, Kelly K, Hailey H, Gregory H, et al. Familial hypercholesterolaemia testing in Scotland. British Society for Human Genetics; Warwick University. September 2010.
  86. Thiart R, Scholtz CL, Vergotine J, Hoogendijk CF, de Villiers JN, Nissen H, et al. Predominance of a 6 bp deletion in exon 2 of the LDL receptor gene in Africans with familial hypercholesterolaemia. J Med Genet. 2000;37:514–9. [PMC free article: PMC1734636] [PubMed: 10882754]
  87. Thiart R, Varret M, Lintott CJ, Scott RS, Loubser O, Du PL, et al. Mutation analysis in a small cohort of New Zealand patients originating from the United Kingdom demonstrates genetic heterogeneity in familial hypercholesterolemia. Mol Cell Probes. 2000;14:299–304. [PubMed: 11040093]
  88. Tosi I, Toledo-Leiva P, Neuwirth C, Naoumova RP, Soutar AK. Genetic defects causing familial hypercholesterolaemia: identification of deletions and duplications in the LDL-receptor gene and summary of all mutations found in patients attending the Hammersmith Hospital Lipid Clinic. Atherosclerosis. 2007;194:102–11. [PubMed: 17094996]
  89. Tybjaerg-Hansen A, Jensen HK, Benn M, Steffensen R, Jensen G, Nordestgaard B. Phenotype of heterozygotes for low-density lipoprotein receptor mutations identified in different background populations. Arterioscler Thromb Vasc Biol. 2005;25:211–15. [PubMed: 15528480]
  90. Umans-Eckenhausen MA, Defesche JC, Sijbrands EJ, Scheerder RL, Kastelein JJ. A nation-wide screening program for familial hypercholesterolemia in the Netherlands: five years experience. Circulation. 2000;102:II-873.
  91. Umans-Eckenhausen MAW, Sijbrands EJG, Kastelein JJP, Defesche JC. Low-density lipoprotein receptor gene mutations and cardiovascular risk in a large genetic cascade screening population. Circulation. 2002;106:3031–6. [PubMed: 12473547]
  92. Vaca G, Vzquez A, Magaa MT, Ramrez ML, Dvalos IP, Marn B, et al. Study on the molecular basis of familial hypercholesterolemia in Mexico. Advances of project. Atheroscler Suppl. 2010;11:124.
  93. Van Aalst-Cohen ES, Jansen ACM, Tanck MWT, Defesche JC, Trip MD, Lansberg PJ, et al. Diagnosing familial hypercholesterolaemia: the relevance of genetic testing. Eur Heart J. 2006;27:2240–6. [PubMed: 16825289]
  94. Van der Graaf A, Avis H, Vissers M, Hutten B, Defesche J, Wiegman A, et al. Phenotype and genotype of familial hypercholesterolemia in over 2000 children. Atheroscler Suppl. 2009;10:e202.
  95. Van der Graaf A, Avis HJ, Kusters DM, Vissers MN, Hutten BA, Defesche JC, et al. Molecular basis of autosomal dominant hypercholesterolemia: assessment in a large cohort of hypercholesterolemic children. Circulation. 2011;123:1167–73. [PubMed: 21382890]
  96. Vergotine J, Thiart R, Kotze MJ. Clinical versus molecular diagnosis of heterozygous familial hypercholesterolaemia in the diverse South African population. S Afr Med J. 2001;91:1053–9. [PubMed: 11845603]
  97. Vergotine J, Thiart R, Langenhoven E, Hillermann R, De Jong G, Kotze MJ. Prenatal diagnosis of familial hypercholesterolemia: importance of DNA analysis in the high-risk South African population. Genet Counsel. 2001;12:121–7. [PubMed: 11491306]
  98. Vladimirova-Kitova LG, Deneva TI, Angelova E, Bichev AN, Nikolov FP. Role of some biomarkers of atherogenic risk in the screening for molecular defects in the low density lipoprotein receptor in severe hypercholesterolemia. Folia Med (Plovdiv) 2008;50:14–22. [PubMed: 19009746]
  99. Voevoda MI, Kulikov IV, Shakhtshneider EV, Maksimov VN, Pilipenko IV, Tereschenko IP, et al. The spectrum of mutations in the low-density lipoprotein receptor gene in the Russian population. Russ J Genet. 2008;44:1191–4. [PubMed: 19062533]
  100. Vohnout B, Raslova K, Gasparovic J, Franekova J, Fabryova L, Belosovicova M, et al. Lipid levels and their genetic regulation in patients with familial hypercholesterolemia and familial defective apolipoprotein B-100: the MEDPED Slovakia Project. Atheroscler Suppl. 2003;4:3–5. [PubMed: 14615272]
  101. Wang J, Ban MR, Hegele RA. Multiplex ligation-dependent probe amplification of LDLR enhances molecular diagnosis of familial hypercholesterolemia. J Lipid Res. 2005;46:366–72. [PubMed: 15576851]
  102. Weiss N, Binder G, Keller C. Mutations in the low-density-lipoprotein receptor gene in German patients with familial hypercholesterolaemia. J Inherit Metab Dis. 2000;23:778–90. [PubMed: 11196104]
  103. Yamwong P, Pongrapeeporn KU, Thepsuriyanont P, Amornrattana A, Somkasettrin A, Sribhen K. Mutation analysis of exon 9 of the LDL receptor gene in Thai subjects with primary hypercholesterolemia. J Med Assoc Thai. 2000;83:S81–8. [PubMed: 11194027]
  104. Yu W, Nohara A, Higashikata T, Lu H, Inazu A, Mabuchi H. Molecular genetic analysis of familial hypercholesterolemia: spectrum and regional difference of LDL receptor gene mutations in Japanese population. Atherosclerosis. 2002;165:335–42. [PubMed: 12417285]
  105. Zakharova FM, Damgaard D, Mandelshtam MY, Golubkov VI, Nissen PH, Nilsen GG, et al. Familial hypercholesterolemia in St.-Petersburg: the known and novel mutations found in the low density lipoprotein receptor gene in Russia. BMC Med Genet. 2005;6:6. [PMC free article: PMC551615] [PubMed: 15701167]
  106. Zrinski TR, Ferencak G, Sucic M, Grskovic B, Stavljenic Rukavina A. Detection of LDL-receptor gene mutations causing familial hypercholesterolemia in Croatia. Clin Chem Lab Med. 2001;39:S318.
  107. Zrinski TR, Gornik O, FloGel M, Sertic J, Stavljenic RA. Low density lipoprotein receptor gene mutations in Croatian hypercholesterolemic patients. Period Biol. 2004;106:295–9.

Low-density lipoprotein cholesterol cut-off values or clinical diagnosis not reported

  1. Descamps OS, Gilbeau JP, Luwaert R, Heller FR. Impact of genetic defects on coronary atherosclerosis in patients suspected of having familial hypercholesterolaemia. Eur J Clin Invest. 2003;33:1–9. [PubMed: 12492446]
  2. Garcia-Otin AL, Cofan M, Junyent M, Recalde D, Cenarro A, Pocovi M, et al. Increased intestinal cholesterol absorption in autosomal dominant hypercholesterolemia and no mutations in the low-density lipoprotein receptor or apolipoprotein B genes. J Clin Endocrinol Metab. 2007;92:3667–73. [PubMed: 17566095]
  3. Real JT, Chaves FJ, Ejarque I, Garia-Garcia AB, Valldecabres C, Ascaso JF, et al. Influence of LDL receptor gene mutations and the R3500Q mutation of the apoB gene on lipoprotein phenotype of familial hypercholesterolemic patients from a South European population. Eur J Hum Genet. 2003;11:959–65. [PubMed: 14508510]
  4. Robles-Osorio L, Ordonez M, Aguilar-Salinas CA, Auron-Gomez M, Tusie-Luna M, Gomez-Perez FJ, et al. Familial hypercholesterolemia due to ligand-defective apolipoprotein B100. First case report in a Mexican family. Arch Med Res. 2003;34:70–5. [PubMed: 12604379]
  5. Salazar LA, Hirata MH, Cavalli SA, Nakandakare ER, Forti N, Diament J, et al. Molecular basis of familial hypercholesterolemia in Brazil: identification of seven novel LDLR gene mutations. Hum Mutat. 2002;19:462–3. [PubMed: 11933210]
  6. Thorsson B, Sigurdsson G, Gudnason V. Systematic family screening for familial hypercholesterolemia in Iceland. Arterioscler Thromb Vasc Biol. 2003;23:335–8. [PubMed: 12588780]
  7. Tounian P, Briffaut D, Benlian P, Girardet J. Molecular-based diagnostic criteria of familial hypercholesterolaemia in children with dominantly-inherited hypercholesterolaemia. Clin Nutr (Edinburgh) 2000;19:48–9.
  8. Yang KC, Su YN, Shew JY, Yang KY, Tseng WK, Wu CC, et al. LDLR and ApoB are major genetic causes of autosomal dominant hypercholesterolemia in a Taiwanese population. J Formos Med Assoc. 2007;106:799–807. [PubMed: 17964958]

Letter/editorial

  1. Graesdal A, Ostli L, Arnesen KE. Familial hypercholesterolemia in Norway – substantial variation in frequency of genetic testing and degree of follow up in different geographical regions. Atheroscler Suppl. 2009;10:e1230.
  2. Hopcroft KA. Child–parent screening may have adverse psychological effects. BMJ. 2007;335:683. [PMC free article: PMC2001043] [PubMed: 17916819]
  3. Kotze MJ. High specificity makes DNA screening the method of choice for diagnosis of familial hypercholesterolaemia. S Afr Med J. 2001;91:1042. [PubMed: 11845598]
  4. Kwiterovich J. Clinical implications of the molecular basis of familial hypercholesterolemia and other inherited dyslipidemias. Circulation. 2011;123:1153–5. [PubMed: 21382891]
  5. Taylor A, Patel K, Tsedeke J, Humphries SE, Norbury G. Mutation screening in patients for familial hypercholesterolaemia (ADH) Clin Genet. 2010;77:97–9. [PubMed: 19843101]
  6. Tejedor D, Castillo S, Mozas P, Jimenez E, Lopez M, Tejedor MT, et al. Comparison of DNA array platform vs DNA sequencing as genetic diagnosis tools for familial hypercholesterolemia. Clin Chem. 2006;52:1971–2. [PubMed: 16998121]

No relevant test of interest

  1. Azian M, Hapizah MN, Khalid BA, Khalid Y, Rosli A, Jamal R. Use of the denaturing gradient gel electrophoresis (DGGE) method for mutational screening of patients with familial hypercholesterolaemia (FH) and familial defective apolipoprotein B100 (FDB) Malays J Pathol. 2006;28:7–15. [PubMed: 17694954]
  2. Bodamer OA, Bercovich D, Schlabach M, Ballantyne C, Zoch D, Beaudet AL. Use of denaturing HPLC to provide efficient detection of mutations causing familial hypercholesterolemia. Clin Chem. 2002;48:1913–18. [PubMed: 12406975]
  3. Fard-Esfahani P, Khatami S, Zeinali C, Taghikhani M, Allahyari M. A modified conformation sensitive gel electrophoresis (CSGE) method for rapid and accurate detection of low density lipoprotein (LDL) receptor gene mutations in familial hypercholesterolemia. Clin Biochem. 2005;38:579–83. [PubMed: 15885240]
  4. Fouchier SW, Defesche JC, Kastelein JJP, Sijbrands EJG. Familial defective apolipoprotein B versus familial hypercholesterolemia: an assessment of risk. Semin Vasc Med. 2004;4:259–64. [PubMed: 15630635]
  5. Graham C, Wright W, Heggarty SV, Byrne C, Young I, Nicholls D. iPLEX mass array, MLPA and high throughput sequencing provide a comprehensive mutation detection service for familial hypercholesterolaemia. J Med Genet. 2007;44:S88.
  6. Hovland A, Hardersen R, Nielsen EW, Mollnes TE, Lappegard KT. Hematologic and hemostatic changes induced by different columns during LDL apheresis. J Clin Apheresis. 2010;25:294–300. [PubMed: 20806414]
  7. Laurie AD, George PM. Evaluation of high-resolution melting analysis for screening the LDL receptor gene. Clin Biochem. 2009;42:528–35. [PubMed: 19118540]
  8. Liguori R, Bianco AM, Argiriou A, Pauciullo P, Giannino A, Rubba P, et al. LDL receptor cDNA sequence analysis in familial hypercholesterolemia patients: 5 novel mutations with high prevalence in families originating from southern Italy. Hum Mutat. 2001;17:433. [PubMed: 11317362]
  9. Liguori R, Argiriou A, Simone VD. A rapid method for detecting mutations of the human LDL receptor gene by complete cDNA sequencing. Mol Cell Probes. 2003;17:15–20. [PubMed: 12628589]
  10. Whittall RA, Scartezini M, Li K, Hubbart C, Reiner Z, Abraha A, et al. Development of a highresolution melting method for mutation detection in familial hypercholesterolaemia patients. Ann Clin Biochem. 2010;47:44–55. [PubMed: 19837725]
  11. Wiesbauer F, Blessberger H, Azar D, Goliasch G, Wagner O, Gerhold L, et al. Familial-combined hyperlipidaemia in very young myocardial infarction survivors (< or = 40 years of age) Eur Heart J. 2009;30:1073–9. [PubMed: 19276196]

Non-English-language

  1. Andalusian Agency for Health Technology Assessment. Molecular genetics diagnosis for familial hypercholesterolemia using LIPOCHIP – review (brief record) Sevilla: Andalusian Agency for Health Technology Assessment; 2004. [January 2011]. URL: www​.juntadeandalucia​.es/salud/servicios/contenidos​/nuevaaetsa​/up/AETSA_P_2004_10_Lipochip.pdf.

Not familial hypercholesterolaemia

  1. Civeira F, Jarauta E, Cenarro A, Garcia-Otin AL, Tejedor D, Zambon D, 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;52:1546–53. [PubMed: 19007590]
  2. Glynou K, Laios E, Drogari E, Tsaoussis V. Development of a universal chemiluminometric genotyping method for high-throughput detection of 7 LDLR gene mutations in Greek population. Clin Biochem. 2008;41:335–42. [PubMed: 18206115]

Reviews/guidelines

  1. Adelaide Health Technology Assessment. Horizon scanning technology prioritising summary: LIPOchip DNA microarray for the detection of familial hypercholesterolaemia. Adelaide: Australia and New Zealand Horizon Scanning Network; 2009. [12 January 2011]. URL: www​.horizonscanning.gov.au.
  2. Datta BN, McDowell IFW, Rees A. Integrating provision of specialist lipid services with cascade testing for familial hypercholesterolaemia. Curr Opin Lipidol. 2010;21:366–71. [PubMed: 20613514]
  3. Goldberg AC, Hopkins PN, Toth PP, Ballantyne C, Rader DJ, Robinson JG, 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;5:133–40. [PubMed: 21600517]
  4. Hegele RA. Genetic susceptibility to heart disease in Canada: lessons from patients with familial hypercholesterolemia. Genome. 2006;49:1343–50. [PubMed: 17426749]
  5. Lebenthal Y, Horvath A, Dziechciarz P, Szajewska H, Shamir R. Are treatment targets for hypercholesterolemia evidence based? Systematic review and meta-analysis of randomised controlled trials. Arch Dis Child. 2010;95:673–80. [PubMed: 20515970]
  6. Leren TP, Berge KE. Comparison of clinical and molecular genetic criteria for diagnosing familial hypercholesterolemia. Clin Lipidol. 2009;4:303–10.
  7. Wald DS, Bestwick JP, Wald NJ. Child–parent screening for familial hypercholesterolaemia: screening strategy based on a meta-analysis. BMJ. 2007;335:599–603. [PMC free article: PMC1989026] [PubMed: 17855284]

Test unclear, no response from author

  1. Alonso R, Villar J, Fuentes F, Zambon D, Mata P. Genetic diagnosis of familial hypercholesterolemia (FH) and LDL-cholesterol goal achievement. Atheroscler Suppl. 2009;10:e272.
  2. Farrer JM, Nair D, Norbury G, Taylor A, Humphries SE. Does DNA information complement lipid measures in cascade testing in familial hypercholesterolaemia patients? Atherosclerosis. 2005;182:S7.
  3. Poke S, Watts G, Maxwell S, Brameld K, O'Leary P. Familial hypercholesterolaemia (FH) pilot cascade screening project. Twin Res Hum Genet. 2009;12:229.

Total cholesterol not low-density lipoprotein cholesterol used as a test

  1. Benlian P, Turquet A, Carrat F, Amsellem S, Sanchez L, Briffaut D, et al. Diagnosis scoring for clinical identification of children with heterozygous familial hypercholesterolemia. J Pediatr Gastroenterol Nutr. 2009;48:456–63. [PubMed: 19330934]
  2. Chater R, Ait CK, Rabes JP, Varret M, Chabraoui L, El JY, et al. Mutational heterogeneity in lowdensity lipoprotein receptor gene related to familial hypercholesterolemia in Morocco. Clin Chim Acta. 2006;373:62–9. [PubMed: 16806138]
  3. Freiberger T, Ravcukova B, Plotena M, Fajkusov L. Sensitivity and specificity of cholesterol measurements in familial hypercholesterolemia diagnosis in Czech population. Atheroscler Suppl. 2010;11:194.
  4. 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;11:26–35. [PubMed: 18196915]
  5. Marks D, Thorogood M, Neil SM, Humphries SE, Neil HAW. Cascade screening for familial hypercholesterolaemia: implications of a pilot study for national screening programmes. J Med Screen. 2006;13:156–9. [PubMed: 17007658]
  6. 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;357:165–8. [PubMed: 11213091]

Unavailable papers

  1. Defesche JC, Lansberg PJ, Umans-Eckenhausen MAW, Kastelein JJP. Advanced method for the identification of patients with inherited hypercholesterolemia. Semin Vasc Med. 2004;4:59–65. [PubMed: 15199434]
  2. Haralambos K, Townsend D, Williams B, Rees A, Williams J, Diaz J, et al. Development of register and website resources to support a familial hypercholesterolaemia (FH) family cascade testing programme. J Med Genet. 2008;45:S109.
  3. Leren TP, Manshaus T, Skovholt U, Skodje T, Nossen IE, Teie C, et al. Application of molecular genetics for diagnosing familial hypercholesterolemia in Norway: results from a family-based screening program. Semin Vasc Med. 2004;4:75–85. [PubMed: 15199436]
  4. Marteau TM, Senior V, Humphries S. Impact on perceived control and risk-reducing behaviour of genetic testing for familial hypercholesterolaemia (FH): a randomised controlled trial. Eur J Hum Genet. 2002;10:306–7.
  5. Martin B, Wang D, Taylor A, Humphries S, Norbury G. MLPA analysis to detect large deletions and duplications in familial hypercholesterolaemia. J Med Genet. 2007;44:S81.
  6. Miller J. Familial hypercholesterolaemia cascade testing: a sociological study. J Med Genet. 2010;47:S101.
  7. Muir LA, George PM, Laurie AD, 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. [PubMed: 21326404]
  8. Ose L. Diagnostic, clinical, and therapeutic aspects of familial hypercholesterolemia in children. Semin Vasc Med. 2004;4:51–7. [PubMed: 15199433]
  9. Pocovi M, Civeira F, Alonso R, Mata P. Familial hypercholesterolemia in Spain: case-finding program, clinical and genetic aspects. Semin Vasc Med. 2004;4:67–74. [PubMed: 15199435]
  10. van Maarle M, Stouthard M, Klazinga N, Bonsel G. Risk perception of participants in a family based genetic screening programme on familial hypercholesterolemia. Eur J Hum Genet. 2001;9:1058.
  11. Vergopoulos A, Knoblauch H, Schuster H. DNA testing for familial hypercholesterolemia: improving disease recognition and patient care. Am J Pharmacogenomics. 2002;2:253–62. [PubMed: 12421096]

Background

  1. Adelaide Health Technology Assessment. Horizon scanning technology – horizon scanning report: genetic screening for familial hypercholesterolaemia. Adelaide: Australia and New Zealand Horizon Scanning Network; 2007. [12 January 2011]. URL: www​.horizonscanning.gov.au.
  2. Ara R, Tumur I, Pandor A, Duenas A, Williams R, Wilkinson A, et al. Ezetimibe for the treatment of hypercholesterolaemia: a systematic review and economic evaluation. Health Technol Assess. 2008;12(21) [PubMed: 18485273]
  3. Arambepola C, Farmer A, Perera R, Neil HAW. Statin treatment for children and adolescents with heterozygous familial hypercholesterolaemia: a systematic review and meta-analysis. Atherosclerosis. 2007;195:339–47. [PubMed: 17097660]
  4. Austin MA, Hutter CM, Zimmern RL, Humphries SE. Genetic causes of monogenic heterozygous familial hypercholesterolemia: a HuGE prevalence review. Am J Epidemiol. 2004;160:407–20. [PubMed: 15321837]
  5. Avis HJ, Vissers MN, Stein EA, Wijburg FA, Trip MD, Kastelein JJP, et al. A systematic review and meta-analysis of statin therapy in children with familial hypercholesterolemia. Arterioscler Thromb Vasc Biol. 2007;27:1803–10. [PubMed: 17569881]
  6. Bhatnagar D. Diagnosis and screening for familial hypercholesterolaemia: finding the patients, finding the genes. Ann Clin Biochem. 2006;43:441–56. [PubMed: 17132275]
  7. Catapano A, Brady WE, King TR, Palmisano J. Lipid altering-efficacy of ezetimibe co-administered with simvastatin compared with rosuvastatin: a meta-analysis of pooled data from 14 clinical trials. Curr Med Res Opin. 2005;21:1123–30. [PubMed: 16004682]
  8. Civeira F, Pocovi M, Alegria E, Alonso R, Carmena R, Casasnovas JA, et al. Guidelines for the diagnosis and management of heterozygous familial hypercholesterolemia. Atherosclerosis. 2004;173:55–68. [PubMed: 15177124]
  9. Civeira F, Castillo S, Alonso R, Merino-Ibarra E, Cenarro A, Artied M, et al. Tendon xanthomas in familial hypercholesterolemia are associated with cardiovascular risk independently of the low-density lipoprotein receptor gene mutation. Arterioscler Thromb Vasc Biol. 2005;25:1960–5. [PubMed: 16020744]
  10. Finnie RM. Cascade screening for familial hypercholesterolaemia in Scotland. Br J Diabet Vasc Dis. 2010;10:123–5.
  11. Gray J, Jaiyeola A, Whiting M, Modell M, Wierzbicki AS. Identifying patients with familial hypercholesterolaemia in primary care: an informatics-based approach in one primary care centre. Heart. 2008;94:754–8. [PubMed: 17575326]
  12. Hadfield SG, Humphries SE. Implementation of cascade testing for the detection of familial hypercholesterolaemia. Curr Opin Lipidol. 2005;16:428–33. [PubMed: 15990592]
  13. Herman K, Van HC, Wile D. Cascade screening for familial hypercholesterolaemia and its effectiveness in the prevention of vascular disease. Br J Diabet Vasc Dis. 2009;9:171–4.
  14. Homsma SJM, Huijgen R, Middeldorp S, Sijbrands EJG, Kastelein JJP. Molecular screening for familial hypercholesterolaemia: consequences for life and disability insurance. Eur J Hum Genet. 2008;16:14–17. [PubMed: 17957228]
  15. Hopcroft KA. Familial hypercholesterolaemia: child–parent screening may have adverse psychological effects. BMJ. 2007;335:683. [PMC free article: PMC2001043] [PubMed: 17916819]
  16. 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;19:362–8. [PubMed: 18607183]
  17. Humphries SE, Neil HAW. Developing and applying clinically useful approaches to identify individuals with familial hypercholesterolemia in the UK. Clin Lipidol. 2010;5:497–507.
  18. Huxley RR, Hawkins MH, Humphries SE, Karpe F, Neil HAW. Risk of fatal stroke in patients with treated familial hypercholesterolemia: a prospective registry study. Stroke. 2003;34:22–5. [PubMed: 12511745]
  19. Jansen ACM, Van Aalst-Cohen ES, Tanck MW, Trip MD, Lansberg PJ, Liem AH, et al. The contribution of classical risk factors to cardiovascular disease in familial hypercholesterolaemia: data in 2400 patients. J Intern Med. 2004;256:482–90. [PubMed: 15554949]
  20. Jensen HK. The molecular genetic basis and diagnosis of familial hypercholesterolemia in Denmark. Dan Med Bull. 2002;49:318–45. [PubMed: 12553167]
  21. Leren TP. Cascade genetic screening for familial hypercholesterolemia. Clin Genet. 2004;66:483–7. [PubMed: 15521974]
  22. Marang-van de Mheen PJ, Van Maarle MC, Stouthard MEA. 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;56:145–7. [PMC free article: PMC1732084] [PubMed: 11812815]
  23. 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 cost-effectiveness analysis. Health Technol Assess. 2000;4(29) [PubMed: 11109029]
  24. Marks D, Thorogood M, Neil AW, Wonderling D, Humphries SE. Comparing costs and benefits over a 10 year period of strategies for familial hypercholesterolaemia screening. J Public Health Med. 2003;25:47–52. [PubMed: 12669918]
  25. Marks D, Thorogood M, Neil HAW, Humphries SE. A review on the diagnosis, natural history, and treatment of familial hypercholesterolaemia. Atherosclerosis. 2003;168:1–14. [PubMed: 12732381]
  26. Marks D, Thorogood M, Farrer JM, Humphries SE. Census of clinics providing specialist lipid services in the United Kingdom. J Public Health. 2004;26:353–4. [PubMed: 15598852]
  27. Maxwell S, Molster C, Poke S, O'Leary P. Community views on the communication of FH genetic information within families. Twin Res Hum Genet. 2009;12:223.
  28. Maxwell SJ, Molster CM, Poke SJ, O'Leary P. Communicating familial hypercholesterolemia genetic information within families. Genet Test Mol Biomarkers. 2009;13:301–6. [PubMed: 19473077]
  29. McGowan M. NLA Symposium screening and treatment of familial hypercholesterolemia: how can we do better? Opening and introductions. J Clin Lipidol. 2010;4:335–7. [PubMed: 21122673]
  30. Morrell J. Familial hypercholesterolaemia: recognising the unrecognised. Br J Cardiol. 2008;15:79–81.
  31. Moruisi KG, Oosthuizen W, Opperman AM. Phytosterols/stanols lower cholesterol concentrations in familial hypercholesterolemic subjects: a systematic review with meta-analysis. J Am Coll Nutr. 2006;25:41–8. [PubMed: 16522931]
  32. Muller PY, Miserez AR. Large heterogeneity of mutations in the gene encoding the lowdensity lipoprotein receptor in subjects with familial hypercholesterolaemia. Atheroscler Suppl. 2004;5:1–5. [PubMed: 15556092]
  33. Neil HA, Huxley RR, Hawkins MM, Durrington PN, Betteridge DJ, Humphries SE, et al. Comparison of the risk of fatal coronary heart disease in treated xanthomatous and non-xanthomatous heterozygous familial hypercholesterolaemia: a prospective registry study. Atherosclerosis. 2003;170:73–8. [PubMed: 12957684]
  34. Newson AJ, Humphries SE. Cascade testing in familial hypercholesterolaemia: how should family members be contacted? Eur J Hum Genet. 2005;13:401–8. [PubMed: 15657617]
  35. 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;30:482–9. [PubMed: 19189168]
  36. Oosterveer DM, Versmissen J, Yazdanpanah M, Hamza TH, Sijbrands EJG. Differences in characteristics and risk of cardiovascular disease in familial hypercholesterolemia patients with and without tendon xanthomas: a systematic review and meta-analysis. Atherosclerosis. 2009;207:311–17. [PubMed: 19439299]
  37. Shafiq N, Bhasin B, Pattanaik S, Pandhi P, Venkateshan SP, Singh M, et al. A meta-analysis to evaluate the efficacy of statins in children with familial hypercholesterolemia. Int J Clin Pharmacol Ther. 2007;45:548–55. [Erratum appears in Int J Clin Pharmacol Ther 2008;46:41.] [PubMed: 17966840]
  38. Shafiq N, Singh M, Kaur S, Khosla P, Malhotra S. Dietary treatment for familial hypercholesterolaemia. Cochrane Database Syst Rev. 2010;(1) Art No. CD001918. [PubMed: 20091526] [Cross Ref]
  39. van den Nieuwenhoff HW, Mesters I, Nellissen JJ, Stalenhoef AF, de Vries NK. The importance of written information packages in support of case-finding within families at risk for inherited high cholesterol. J Genet Couns. 2006;15:29–40. [PubMed: 16468088]
  40. Van Maarle MC, Stouthard MEA, Mheen PJM, Klazinga NS, Bonsel GJ. How disturbing is it to be approached for a genetic cascade screening programme for familial hypercholesterolaemia?: psychological impact and screenees' views. Community Genet. 2001;4:244–52. [PubMed: 12751487]
  41. Van Maarle MC, Stouthard MEA, Bonsel GJ. Risk perception of participants in a family-based genetic screening program on familial hypercholesterolemia. Am J Med Genet. 2003;116A:136–43. [PubMed: 12494431]
  42. Vuorio A, Kuoppala J, Kovanen P. Statins for children with familial hypercholesterolemia. Cochrane Database Syst Rev. 2010;(7) Art No. CD006401. [PubMed: 20614444] [Cross Ref]
  43. Warner M. Child–parent screening for familial hypercholesterolaemia: screening strategy based on a meta-analysis. Ann Clin Biochem. 2008;45:114. [PubMed: 18275690]
  44. 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;19:419–22. [PubMed: 20363671]
  45. Weiner K, Durrington PN. Patients' understandings and experiences of familial hypercholesterolemia. Community Genet. 2008;11:273–82. [PubMed: 18493125]
  46. Will CM, Armstrong D, Marteau TM. Genetic unexceptionalism: clinician accounts of genetic testing for familial hypercholesterolaemia. Soc Sci Med. 2010;71:910–17. [PubMed: 20591544]
  47. Wright WT, Heggarty SV, Young IS, Nicholls DP, Whittall R, Humphries SE, et al. Multiplex MassARRAY spectrometry (iPLEX) produces a fast and economical test for 56 familial hypercholesterolaemia-causing mutations. Clin Genet. 2008;74:463–8. [PubMed: 18700895]
© 2012, Crown Copyright.

Included under terms of UK Non-commercial Government License.

Cover of Elucigene FH20 and LIPOchip for the Diagnosis of Familial Hypercholesterolaemia: A Systematic Review and Economic Evaluation
Elucigene FH20 and LIPOchip for the Diagnosis of Familial Hypercholesterolaemia: A Systematic Review and Economic Evaluation.
Health Technology Assessment, No. 16.17.
Sharma P, Boyers D, Boachie C, et al.
Southampton (UK): NIHR Journals Library; 2012 Mar.

PubMed Health Blog...

read all...

Recent Activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...