Comparison of clinical and molecular genetic criteria for diagnosing familial hypercholesterolemia

Bibliography

• Goldstein JL, Hobbs HH, Brown MS: Familial hypercholesterolemia. In: The Metabolic Basis of Inherited Disease. Scriver CR, Baudet AL, Sly WS, Valle D (Eds). McGraw-Hill, NY, USA 2863–2913 (2001).
   Google Scholar
• Slack J: Risks of ischaemic heart disease in familial hyperlipoproteinaemic states. Lancet 2(7635), 1380–1382 (1969).
   Google Scholar
• Scientific Steering Committee on behalf of the Simon Broome Register Group: Risk of fatal coronary heart disease in familial hypercholesterolemia. BMJ 303, 893–896 (1991).
   Google Scholar
• Scientific Steering Committee on behalf of the Simon Broome Register Group: Mortality in treated heterozygous familial hypercholesterolaemia: implications for clinical management. Atherosclerosis 142, 105–112 (1999).
   Google Scholar
• Heiberg A, Berg K: The inheritance of hyperlipoproteinemia with xanthomatosis. A study of 132 kindreds. Clin. Genet. 9, 203–233 (1976).
   Google Scholar
• Slack J: Inheritance of familial hypercholesterolemia. In: Atherosclerosis Reviews, Volume 5. Paoletti R, Gotto AM (Eds). Raven Press, NY, USA, 35–66 (1979).
   Google Scholar
• Williams RR, Hamilton-Craig I,Kostner GM et al.: MEDPED: an integrated genetic strategy for preventing early deaths. In: Genetic Approaches to Noncommunicable Diseases. Berg K, Boulyjenkov V, Christen Y (Eds). Springer Verlag-Berlin, Berlin, Germany 35–46 (1996).
   Google Scholar
• Huigen R, Vissers MN, Defesche JC et al.: Familial hypercholesterolemia: current treatment and advances in management. Expert Rev. Cardiovasc. 6, 567–581 (2008). n Describes the current status regarding therapy and management of familial hypercholesterolemia heterozygotes.
   Google Scholar
• Wood D, De Backer G, Faergeman O et al.:Prevention of coronary heart disease in clinical prectice: recommendation of the Second Task Force of European and Other Societies on Coronary Prevention. Atherosclerosis 140, 199–270 (1998).
   Google Scholar
• Neil HAW, Hammond T, Matthews DR, Humphries SE: Extent of underdiagnosis of familial hypercholesterolemia in routine practice: prospective registry study. BMJ 321, 148 (2000).
   Google Scholar
• 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. 11, 26–35 (2008). n Describes the sensitivity and specificity of a clinical diagnosis of familial hypercholesterolemia in general practice.
   Google Scholar
• Study Group, European Atherosclerosis Society: The recognition and management of hyperlipiemia in adults: a policy statement of the European Atherosclerosis Society. Eur. Heart J. 9, 571–600 (1988).
   Google Scholar
• Leren TP, Tonstad S, R–dningen OK et al.: Molecular genetics of familial hypercholesterolemia in Norway. J. Int. Med. 241, 185–194 (1997).
   Google Scholar
• Soria LF, Ludwig EH, Clarke HRG et al.: Association between a specific apolipoprotein B mutation and familial defective apoB-100. Proc. Natl Acad. Sci. USA 86, 587–591 (1989).
   Google Scholar
• Abifadel M, Varret M, Rabes JP et al.: Mutations in PCSK9 cause autosomal dominant hypercholesterolemia. Nat. Genet.34, 154–156 (2003).
   Google Scholar
• Marks D, Wonderling D, Thorogood M et al.: Screening for hypercholesterolemia versus case finding for familial hypercholesterolaemia: systematic review and cost–effectiveness analysis. Hlth Technol.Assess. 4, 1–123 (2000). n Gives a systematic review of the cost–effectiveness of different strategies to diagnose familial hypercholesterolemia.
   Google Scholar
• Krawczak M, Cooper DN, Smidtke J:Estimating the efficacy and efficiency of cascade genetic screening. Am. J. Hum. Genet. 69, 361–370 (2001).
   Google Scholar
• Starr B, Hadfield SG, Hutten BA et al.: Development of sensitive age- and genderspecific low-density lipoprotein cholesterol cutoffs for diagnosis of first-degree relatives with familial hypercholesterolaemia in cascade testing. Clin. Chem. Lab. Med. 46 791–803 (2008).n Presents the values for total serum cholesterol among molecularly defined familial hypercholesterolemia heterozygotes identified by cascade screening in threenorthern European countries.
   Google Scholar
• Pimstone SN, Sun XM, du Souich C et al.: Phenotypic variation in heterozygous familial hypercholesterolemia. Arterioscler. Thromb. Vasc. Biol. 18, 309–315 (1998).
   Google Scholar
• Williams RR, Hunt SC, Schumacher MC et al.: Diagnosing heterozygous familial hypercholesterolemia using new practical criteria validated by molecular genetics. Am. J. Cardiol. 72, 171–176 (1993).
   Google Scholar
• Leren TP, Manshaus T, Skovholt U et al.: Application of molecular genetics for diagnosing familial hypercholesterolemia in Norway: results from a family-based screening program. Semin. Vasc. Med. 4, 75–85 (2004).
   Google Scholar
• Umans-Eckenhausen MAW, Defesche JC, Sijbrands EJG et al.: Review of the first 5 years of screening for familial hypercholesterolemia in The Netherlands. Lancet 357, 165–168 (2001).nn Describes the organization and findings of the case-finding program in The Netherlands.
   Google Scholar
• ten Asbroek AHA, Marang-van de Mheen PJ, Defesche JC et al.: Results from a family and DNA based active identification programme for familial hypercholesterolaemia. J. Epidemiol. Community Health 55, 500–502 (2001).
   Google Scholar
• Familial hypercholesterolemia. In: Report of a WHO Consultation. World Health Organization, Geneva, Switzerland (1997).
   Google Scholar
• Winder AF, Jolleys JCW, Day LB, Butowski PF: Corneal arcus, case finding and definition of individual clinical risk in heterozygous familial hypercholesterolaemia. Clin. Genet. 54, 497–502 (1998).
   Google Scholar
• Williams RR, Hopkins PN, Hunt SC et al.: Population-based frequency of dyslipidemia syndromes in coronary prone families in Utah. Arch. Intern. Med. 150, 582–588 (1990).
   Google Scholar
• Koivisto UM, Hamalainen L, Taskinen MR, Kettunen K, Kontula K: Prevalence of familial hypercholesterolemia among young North Karelian patients with coronary heartdisease: a study based on diagnosis by polymerase chain reaction. J. Lipid Res. 34, 269–277 (1993).
   Google Scholar
• Defesche J: Familial hypercholesterolemia. In: Lipids and Vascular Disease. Betteridge DJ (Ed.) Martin Dunitz Ltd, London, UK, 65–76 (2000).
   Google Scholar
• S–dhof TC, Goldstein JL, Brown MS, Russell DW: The LDL receptor gene: a mosaic of exons shared with different proteins. Science 228, 815–822 (1985).
   Google Scholar
• Leigh SE, Foster AH, Whittall RA, Hubbart CS, Humphries SE: Update and analysis of the University College London low density liporpotein receptor familial hypercholesterolemia database. Ann. Hum. Genet. 72, 485–498 (2008).
   Google Scholar
• Sanger F, Nicklen S, Coulon AR: DNA sequencing with chain-terminating inhibitors. Proc. Natl Acad. Sci. USA 12, 5463–5467 (1977).
   Google Scholar
• Orita M, Iwahana H, Kanazawa H, Hayashi K, Sekiya T: Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms. Proc. Natl Acad. Sci. USA 86, 2766–2770 (1989).
   Google Scholar
• Sheffield VC, Cox DR, Lerman LS, Myers RM: Attachment of a 40-base-pair G + C-rich sequence (GC-clamp) to genomic DNA fragments by the polymerase chain reaction results in improved detection of single-base changes. Proc. Natl Acad. Sci. USA 86, 232–236 (1989).
   Google Scholar
• Fouchier SW, Defesche JC, Umans-Eckenhausen MAW et al.: The molecular basis of familial hypercholesterolemia in The Netherlands. Hum. Genet. 109, 602–615 (2001).
   Google Scholar
• Heath K, Gudnason V, Humphries SE et al.: The type of mutation in the low density lipoprotein receptor gene influences the cholesterol-lowering response of the HMG-CoA reductase inhibitor simvastatin in patients with heterozygous familial hypercholesterolaemia. Atherosclerosis 143, 41–54 (1999).
   Google Scholar
• Damgaard D, Larsen ML, Nissen PH et al.: The relationship of molecular genetic to clinical diagnosis of familial hypercholesterolemia in a Danish population. Atherosclerosis 180, 155–160 (2005).
   Google Scholar
• Wright WT, Heggarty SV, Young IS et al.: Multiplex MassARRAY spectrometry (iPLEX) produces a fast and economical test for 56 familial hypercholesterolaemiacausing mutations. Clin. Genet. 74, 463–468 (2008)
   Google Scholar
• Tejedor D, Castillo S, Mozas P et al.: Reliable low-density DNA array based on allelespecific probes for detection of 118 mutations causing familial hypercholesterolemia. Clin. Chem. 51, 1137–1144 (2005).
   Google Scholar
• Southern EM: Detection of specific sequences among DNA fragments separated by gel electrophoresis. J. Mol. Biol. 98, 503–517 (1975).
   Google Scholar
• Holla –L, Teie C, Berge KE, Leren TP: Identification of deletions and duplications in the low density lipoprotein receptor gene by MLPA. Clin. Chim. Acta 356, 164–171 (2005).
   Google Scholar
• Heath K, Day IN, 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. 37, 272–280 (2000).
   Google Scholar
• Vinker S, Shani M, Baevsky T, Elhayany A: Adherence with statins over 8 years in a usual care setting. Am. J. Manag. Care 14, 388–392 (2008)
   Google Scholar
• Briesacher BA, Andrade SE, Fouayzi H, Chan KA: Comparison of drug adherence rates among patients with seven different medical conditions. Pharmacotherapy 28, 437–443 (2008).
   Google Scholar
• Yilmaz MB, Pinar M, Naharci I et al.: Being well-informed about statin is associated with continuous adherence and reaching targets. Cardiovasc. Drugs Ther. 19, 437–440(2005).
   Google Scholar
• Wierzbicki AS, Humphries SE, Minhas R: Familial hypercholesterolaemia: summary of NICE guidance. BMJ 337, 509–511 (2008).
   Google Scholar
• Daniels SR, Greer FR: Lipid screening and cardiovascular health in childhood. Pediatrics 122, 198–208 (2008).
   Google Scholar
• Nicholls DP, Cather M, Byrne C, Graham CA, Young IS: Diagnosis of heterozygous familial hypercholesterolaemia in children. Int. J. Clin. Pract. 62, 990–994 (2008).
   Google Scholar
• Umans-Eckenhausen MAW, Defesche JC,van Dam MJ et al.: Long-term compliance with lipid-lowering medication after genetic screening for familial hypercholesterolemia. Arch. Intern. Med. 163, 65–68 (2003).
   Google Scholar
• Wilson JMG, Jungner G: Principles and practice for screening of disease. WHO, Geneva, Switzerland (1968).
   Google Scholar
• Pocovi M, Civeira F, Alonso R, Mata P:Familial hypercholesterolemia in Spain: case-finding program, clinical and genetic aspects. Semin. Vasc. Med. 4, 67–74 (2004).
   Google Scholar