A review on the diagnosis, natural history, and treatment of familial hypercholesterolaemia

Atherosclerosis

Volumn 168, Issue 1, 2003, Pages 1-14

  Marks, Dalya ^a   Thorogood, Margaret ^a   Neil, H Andrew W ^b   Humphries, Steve E ^c  

^a LONDON SCHOOL OF HYGIENE AND TROPICAL MEDICINE   (United Kingdom)

^b RADCLIFFE INFIRMARY   (United Kingdom)

^c ROYAL FREE AND UNIVERSITY COLLEGE MEDICAL SCHOOL   (United Kingdom)

Author keywords

Familial hypercholesterolaemia; Genetic screening; Screening

Indexed keywords

ATORVASTATIN; CHOLESTEROL; COLESTIPOL; COLESTYRAMINE; EZETIMIBE; FIBRIC ACID DERIVATIVE; GLYCINE; HYDROXYMETHYLGLUTARYL COENZYME A REDUCTASE INHIBITOR; LOW DENSITY LIPOPROTEIN CHOLESTEROL; LOW DENSITY LIPOPROTEIN RECEPTOR; MARGARINE; MEVINOLIN; PHYTOSTEROL; RESIN; SIMVASTATIN; SITOSTANOL; TRYPTOPHAN;

AGE DISTRIBUTION; AMINO ACID SUBSTITUTION; APHERESIS; CHILDHOOD DISEASE; CHOLESTEROL BLOOD LEVEL; CLINICAL FEATURE; CLINICAL TRIAL; DIAGNOSTIC ACCURACY; DIAGNOSTIC APPROACH ROUTE; DIAGNOSTIC ERROR; DIET THERAPY; DNA DETERMINATION; DNA SEQUENCE; DOSE RESPONSE; DRUG CONTRAINDICATION; FAMILIAL HYPERCHOLESTEROLEMIA; FAMILY HISTORY; GENE MUTATION; GENE THERAPY; GENETIC ANALYSIS; GENETIC RISK; HEALTH CARE COST; HIGH RISK POPULATION; HUMAN; HYPERLIPOPROTEINEMIA TYPE 2; INTERMETHOD COMPARISON; LIVER TRANSPLANTATION; MISSENSE MUTATION; MORBIDITY; MORTALITY; MUTATIONAL ANALYSIS; MYOSITIS; NONHUMAN; PREVALENCE; PRIORITY JOURNAL; REVIEW; RHABDOMYOLYSIS; SIDE EFFECT; TREATMENT INDICATION;

CHOLESTEROL; CORONARY DISEASE; GREAT BRITAIN; HUMANS; HYDROXYMETHYLGLUTARYL-COA REDUCTASE INHIBITORS; HYPERLIPOPROTEINEMIA TYPE II; RISK FACTORS;

EID: 0037541585     PISSN: 00219150     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0021-9150(02)00330-1     Document Type: Review

References (102)

1. Goldstein J.L., Brown M.S. Familial hypercholesterolaemia. Scriver C.R., et al. The metabolic basis of inherited disease. 1995;1215-1245 McGraw Hill, New York.
2. Slack J. Risks of ischaemic heart-disease in familial hyperlipoproteinaemic states. The Lancet. 1969;1380-1382.
3. Stone N.J., Levy R.I., Fredrickson D.S., Verter J. Coronary artery disease in 116 kindred with familial type II hyperproteinemia. Circulation. 49:1974;476-488.
4. Thompson G.R., Maher V.M., Matthews S., Kitano Y., Neuwirth C., Shortt M.B., et al. Familial hypercholesterolaemia regression study: a randomised trial of low-density-lipoprotein apheresis. Lancet. 345:(8953):1995;811-816.
5. Mortality in treated heterozygous familial hypercholesterolaemia: implications for clinical management. Atherosclerosis. 142:1999;105-112.
6. Sacks F.M., Pfeffer M.A., Moye L.A., Rouleau J.L., Rutherford J.D., Cole T.G., et al. The effect of pravastatin on coronary events after myocardial infarction in patients with average cholesterol levels. N. Engl. J. Med. 335:(14):1996;1001-1009.
7. Prevention of cardiovascular events and death with pravastatin in patients with coronary heart disease and a broad range of initial cholesterol levels. The Lancet. 339:(19):1998;1349-1357.
8. Shepherd J., Cobbe M., Ford I., Isles C.G., Lorimer A.R., MacFarlane P.W., et al. Prevention of coronary heart disease with pravastatin in men with hypercholesterolemia. N. Engl. J. Med. 333:(20):1995;1301-1307.
9. Randomised trial of cholesterol lowering in 4444 patients with coronary heart disease: the Scandinavian Simvastatin Survival Study (4S). The Lancet. 344:1994;1383-1389.
10. Downs J.R., Clearfield M., Weis S., Whitney E., Shapiro D.R., Beere P.A., et al. Primary prevention of acute coronary events with lovastatin in men and women with average cholesterol levels: results of AFCAPS/TexCAPS. Air Force/Texas Coronary Atherosclerosis Prevention Study. JAMA. 279:(20):1998;1615-1622.
11. Marks D., Wonderling D., Thorogood M., Lambert H., Humphries S.E., Neil HAW. A cost-effectiveness analysis of different approaches to screening for familial hypercholesterolaemia. BMJ. 324:2002;1303-1306.
12. Marks D., Wonderling D., Thorogood M., Lambert H., Humphries S.E., Neil H.A.W. Screening for hypercholesterolaemia versus case finding for familial hypercholesterolaemia: systematic review and cost effectiveness analysis. Health Technol. Assess. 4:(29):2000.
13. Neil H.A.W. Problems in measurement: cholesterol. Lawrence M., et al. Prevention of cardiovascular disease: an evidence-based approach. 1996;253-257 Oxford University Press, Oxford.
14. NHS Centre for Reviews and Dissemination, Cholesterol and coronary heart disease: screening and treatment. Effective Health Care, 1998;4(1):1-16.
15. Friedewald W.T., Levi R.I., Fredrickson D.S. Estimation of the concentration of low density lipoprotein cholesterol concentration in plasma without use of preparative ultracentrifuge. Am. J. Hum. Genet. 18:1972;499-502.
16. Kwiterovich P.O.J., Fredrickson D.S., Levy R.I. Familial hypercholesterolemia (one form of familial type II hyperlipoproteinemia). A study of its biochemical, genetic and clinical presentation in childhood. J. Clin. Invest. 53:(5):1974;1237-1249.
17. Leonard J.V., Whitelaw A.G.L., Wolff O.H., Lloyd J.K., Slack J. Diagnosing familial hypercholesterolaemia in childhood by measuring serum cholesterol. BMJ. 1:(6076):1977;1566-1568.
18. Vuorio A.F., Turtola H., Piilahti K.-M., Repo P., Kanninen T., Kontula K. Familial hypercholesterolaemia in the Finnish north Karelia: a molecular, clinical and genealogical study. Arterioscler. Thromb. Vasc. Biol. 17:(11):1997;3127-3138.
19. Williams R.R., Hunt S.C., Schumacher C., Hegele R.A., Leppert M.F., Ludwig E.H., et al. Diagnosing heterozygous familial hypercholesterolemia using new practical criteria validated by molecular genetics. Am. J. Cardiol. 72:1993;171-176.
20. Risk of fatal coronary heart disease in familial hypercholesterolaemia. BMJ. 303:1991;893-896.
21. Durrington P.N. Familial hypercholesterolaemia. Durrington P.N. Hyperlipidaemia: diagnosis and management. 1995;108-140 Butterworth-Heinemann Ltd, Oxford.
22. WHO-Human Genetics, DoNDP, Familial Hypercholesterolaemia-Report of a second WHO Consultation, ed. WHO. 1999, Geneva.
23. Khoo K.L., van Acker P., Defesche J.C., Tan H., van de Kerkhof L., Heijnen van Eijk S.J., et al. Low-density lipoprotein receptor gene mutations in a Southeast Asian population with familial hypercholesterolemia. Clin. Genet. 58:(2):2000;98-105.
24. Fouchier S., Defesche J., Umans-Eckenhausen M., Kastelein J. The molecular basis of familial hypercholesterolemia in The Netherlands. Hum. Genet. 109:2001;602-615.
25. Heath K.E., Gudnason V., Humphries S.E., Seed M. 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. 143:1999;41-54.
26. Heath K.E., Gahan M., Whittall R.A., Humphries S.E. Low-density lipoprotein receptor gene (LDLR) world-wide website in familial hypercholesterolaemia: update, new features and mutation analysis. Atherosclerosis. 154:2001;243-246.
27. Tybjaerg-Hansen A., Humphries S. Familial defective apolipoprotein B-100: a single mutation that causes hypercholesterolaemia and premature coronary artery disease. Atherosclerosis. 96:1992;91-107.
28. Myant N. Familial defective apolipoprotein B-100: a review, including some comparisons with familial hypercholesterolaemia. Atherosclerosis. 104:(1-2):1993;1-18.
29. Varret M., Rabes J.P., Saint J.B., Cenarro A., Marinoni J.C., Civeira F., et al. A third major locus for autosomal dominant hypercholesterolaemia maps to 1p34.1-p32. Am. J. Med. Genet. 64:1999;1378-1387.
30. Hunt S.C., Hopkins P.N., Bulka K., McDermott M.T., Thorne T.L., Wardell B.B., et al. Genetic localization to chromosome 1p32 of the third locus for familial hypercholesterolemia in a Utah kindred. Arterioscler. Thromb. Vasc. Biol. 20:2000;1089-1093.
31. Sun X.-M., Webb J.C., Gudnason V., Humphries S.E., Seed M., Thompson G.R., et al. Characterisation of deletions in the LDL receptor gene in patients with familial hypercholesterolemia in the United Kingdom. Arterioscler. Thromb. 12:1992;762-777.
32. Heath K., Day I.N., Humphries S.E. 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. 37:2000;272-280.
33. Sun X., Neuwirth C., Patel D.D., Knight B.L. Comparison of the genetic defect with LDL-receptor activity in culture cells from patients with a clinical diagnosis of heterozygous familial hypercholesterolaemia. Arterioscler. Thromb. Vasc. Biol. 17:1997;3092-3101.
34. Jensen H., Jensen L.G., Hansen P.S., Færgeman O., Gregerson N. High sensitivity of the single-strand conformation polymorphism method for detecting sequence variations in the low-density lipoprotein receptor gene validated by DNA sequencing. Clin. Chem. 42:1996;1140-1146.
35. Heath K.E., Humphries S.E., Middleton-Price H., Boxer M. A molecular genetic service for diagnosing individuals with familial hypercholesterolaemia (FH). Eur. J. Hum. Gen. 9:2001;244-252.
36. Lombardi P., Sijbrands E.J.G., van de Giessen K., Smelt A.H.M., Kastelein J.J.P., Frants R.R., et al. Mutations in the low density lipoprotein receptor gene of familial hypercholesterolaemic patients detected by denaturing gradient gel electrophoresis and direct sequencing. J. Lipid Res. 36:1995;860-867.
37. Cotton R., Scriver C. Proof of 'disease causing' mutation. Hum. Mutat. 12:1998;1-3.
38. Sun X., Patel D., Bhatnagar D., Knight B., Soutar A. Characterisation of a splice-site mutation in the gene for the LDL receptor associated with an unpredictably severe clinical phenotype in English patients with heterozygous FH. Arterioscler. Thromb. Vasc. Biol. 15:1995;219-227.
39. Flomen R., Green P., Bentley D., Gianelli F., Green E. Detection of point mutations and a gross deletion in six Hunter syndrome patients. Genomics. 13:1992;543-550.
40. Ward A.J., O'Kane M., Nicholls D.P., Young I.S., Nevin N.C., Graham C.A. A novel single base deletion in the LDLR gene (211delG): effect on serum lipid profiles and the influence of other genetic polymorphisms in the ACE, APOE and APOB genes. Atherosclerosis. 120:(1-2):1996;83-91.
41. Koivisto P.V., Koivisto U.M., Miettinen T.A., Kontula K. Diagnosis of heterozygous familial hypercholesterolemia. DNA analysis complements clinical examination and analysis of serum lipid levels. Arterioscler. Thromb. 12:(5):1992;584-592.
42. 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. 357:(9251):2001;165-168.
43. ten Asbroek A.H.A., Marang-van de Mheen P.J., Defesche J.C., Kastelein J.J.P., Gunning-Schepers L.J. Results from a family and DNA based active identification programme for familial hypercholesterolaemia. J. Epidemiol. Community Health. 55:2001;500-502.
44. Steyn K., Goldberg Y.P., Kotze M.J., Steyn M., Swanepoel A.S., Fourie J.M., et al. Estimation of the prevalence of familial hypercholesterolaemia in a rural Afrikaner community by direct screening for three Afrikaner founder low density lipoprotein receptor gene mutations. Hum. Genet. 98:(4):1996;479-484.
45. Davignon J., Roy M. Familial hypercholesterolemia in French-Canadians: taking advantage of the presence of a 'founder effect'. Am. J. Cardiol. 72:1993;6D-10D.
46. Betard C., Kessling A.M., Roy M., Chamberland A., Lussier Cacan S., Davignon J. Molecular genetic evidence for a founder effect in familial hypercholesterolemia among French Canadians. Hum. Genet. 88:(5):1992;529-536.
47. Sijbrands E.J.G., Westendorp R.G.J., Defesche J.C., de Meier P.H.E.M., Smelt A.H.M., Kastelein J.P.J. Mortality over two centuries in large pedigree with familial hypercholesterolaemia: family tree mortality study. BMJ. 322:2001;1019-1022.
48. Department of Health, Health Survey for England, 1998: Cardiovascular Disease. 1999, London: The Stationery Office.
49. Smilde T.J., van Wissen S., Wollersheim H., Trip M.D., Kastelein J.J.P., Stalenhoef A.F.H. Effect of aggressive versus conventional lipid lowering on atherosclerosis progression in familial hypercholesterolaemia (ASAP): a prospective, randomised, double-blind trial. The Lancet. 357:2001;577-581.
50. Olsson A.G., Pears J., McKellar J., Mizan J., Raza A. Effect of rosuvastatin on low-density lipoprotein cholesterol in patients with hypercholesterolaemia. Am. J. Cardiol. 88:(Suppl):2001;504-508.
51. Illingworth D.R. New horizons in combination drug therapy for hypercholesterolaemia. Cardiology. 76:(Suppl 1):1989;83-100.
52. Heinonen T.M., Schrott H., McKenney J.M., Sniderman A.D., Broyles F.E., Zavoral J.H., et al. Atorvastatin, a new HMG-CoA reductase inhibitor as monotherapy and combined with colestipol. J. Cardiovasc. Pharmacol. Therapeut. 1:1996;117-122.
53. Gylling H., Radhakrishnan R., Miettinen T.A. Reduction in serum cholesterol in postmenopausal women with previous myocardial infarction and cholesterol malabsorption induced by dietary sitostanol ester margarine. Circulation. 96:1997;4226-4231.
54. Neil H.A.W., Meijer G.W., Roe L.S. Randomised controlled trial of use by hypercholesterolaemic patients of a vegetable oil sterol-enriched fat spread. Atherosclerosis. 156:2001;329-337.
55. Naoumova R.P., Marais A.D., Mountney J., Firth J.C., Rendell N.B., Taylor G.W., et al. Plasma mevalonic acid, an index of cholesterol synthesis in vivo, and responsiveness to HMG-CoA reductase inhibitors in familial hypercholesterolaemia. Atherosclerosis. 119:1996;203-213.
56. Leitersdorf E. Cholesterol inhibition: filling an unmet need in lipid-lowering management. Eur. Heart J. 3:(Suppl E):2001;E17-E23.
57. Park J.W., Merz M., Braun P. Effect of HELP-LDL-apheresis on outcomes in patients with advanced coronary atherosclerosis and severe hypercholesterolaemia. Atherosclerosis. 139:1998;401-409.
58. Gagne C., Gaudet D., Bruckert E. Efficacy and safety of Ezetimibe coadministered with atorvastatin or simvastatin in patients with homozygous familial hypercholesterolaemia. Circulation. 105:2002;2469-2475.
59. Thompson G.R., Miller J.P., Breslow J.L. Improved survival of patients with homozygous familial hypercholesterolaemia treated with plasma exchange. Br. Med. J. (Clin. Res. Ed.). 291:(6510):1985;1671-1673.
60. Vella A., Pineda A.A., O'Brien T. Low-density lipoprotein apheresis for the treatment of refractory hyperlipidemia. Mayo. Clin. Proc. 76:(10):2001;1039-1046.
61. Kajinami K., Mabuchi H. Therapeutic effects of LDL apheresis in the prevention of atherosclerosis. Curr. Opin. Lipidol. 10:(5):1999;401-406.
62. Starzl T.E., Bilheimer D.W., Bahnson H.T., Shaw B.W. Jr., Hardesty R.L., Griffith B.P., et al. Heart-liver transplantation in a patient with familial hypercholesterolaemia. Lancet. 1:(8391):1984;1382-1383.
63. Barbir M., Khaghani A., Kehely A., Tan K.C., Mitchell A., Thompson G.R., et al. Normal levels of lipoproteins including lipoprotein(a) after liver-heart transplantation in a patient with homozygous familial hypercholesterolaemia. Q. J. Med. 85:(307-308):1992;807-812.
64. Stangl M.J., Beuers U., Schauer R., Lang T., Gerbes A., Briegel J., et al. Die allogene Lebertransplantationeine - Form der 'Gentherapie' bei metabolischen Erkrankungen. Munchener Ergebnisse und Ubersicht. Chirurg. 71:(7):2000;808-819.
65. Offstad J., Schrumpf E., Geiran O., Soreide O., Simonsen S. Plasma exchange and heart-liver transplantation in a patient with homozygous familial hypercholesterolemia. Clin. Transplant. 15:(6):2001;432-436.
66. Bilheimer D.W. Portacaval shunt and liver transplantation in treatment of familial hypercholesterolemia. Arteriosclerosis. 9:(Suppl 1):1989;I158-1163.
67. Wilson J.M., Grossman M., Raper S.E., Baker J.R. Jr., Newton R.S., Thoene J.G. Ex vivo gene therapy of familial hypercholesterolemia. Hum. Gene Ther. 3:(2):1992;179-222.
68. Kobayashi K., Oka K., Forte T., Ishida B., Teng B., Ishimura Oka K., et al. Reversal of hypercholesterolemia in low density lipoprotein receptor knockout mice by adenovirus-mediated gene transfer of the very low density lipoprotein receptor. J. Biol. Chem. 271:(12):1996;6852-6860.
69. Oka K., Davis A.R., Chan L. Recent advances in liver-directed gene therapy: implications for the treatment of dyslipidemia. Curr. Opin. Lipidol. 11:(2):2000;179-186.
70. Hiltunen M.O., Turunen M.P., Yla-Herttuala S. Gene therapy methods in cardiovascular diseases. Methods Enzymol. 346:2002;311-320.
71. Kozarsky K.F., Jooss K., Donahee M., Strauss J.F. III, Wilson J.M. Effective treatment of familial hypercholesterolaemia in the mouse model using adenovirus-mediated transfer of the VLDL receptor gene. Nat. Genet. 13:(1):1996;54-62.
72. Grossman M., Raper S.E., Kozarsky K., Stein E.A., Engelhardt J.F., Muller D., et al. Successful ex vivo gene therapy directed to liver in a patient with familial hypercholesterolaemia. Nat. Genet. 6:(4):1994;335-341.
73. Grossman M., Rader D.J., Muller D.W., Kolansky D.M., Kozarsky K., Clark B.J. III, et al. A pilot study of ex vivo gene therapy for homozygous familial hypercholesterolaemia. Nat. Med. 1:(11):1995;1148-1154.
74. Raper S.E., Grossman M., Rader D.J., Thoene J.G., Clark B.J. III, Kolansky D.M., et al. Safety and feasibility of liver-directed ex vivo gene therapy for homozygous familial hypercholesterolemia. Ann. Surg. 223:(2):1996;116-126.
75. Kwiterovich P.O., Levy R.I., Fredrickson D.S. Neonatal diagnosis of familial hyperlipoproteinemia. Lancet. 1:1973;118-122.
76. Kessling A.M., Seed M., Taylor R., Wynn V., Humphries S.E. Rising cholesterol levels in children with familial hypercholesterolaemia. Biomed. Pharmacother. 44:1990;373-379.
77. Vuorio A.F., Turtola H., Kontula K. Neonatal diagnosis of familial hypercholesterolaemia in newborns born to a parent with a molecularly defined heterozygous familial hypercholesterolaemia. Arterioscler. Thromb. Vasc. Biol. 17:1997;3332-3337.
78. Boulton T.J., Craig I.H., Hill G. Screening of cord blood low-density-lipoprotein cholesterol in the diagnosis of familial hypercholesterolaemia: a study of 2000 infants. Acta Paediatr. Scand. 68:(3):1979;363-370.
79. Wray R., Neil H.A.W., Rees J. Screening for hyperlipidaemia in childhood: recommendations of the British Hyperlipidaemia Association. J.R. Coll. Physicians Lond. 30:(2):1996;115-118.
80. Neil A., Rees A., Taylor C. Hyperlipidaemia in childhood. 1996;Royal College of Physicians of London on behalf of The British Hyperlipidaemia Association, London.
81. Kwiterovich P.O. Jr. Pediatric implications of heterozygous familial hypercholesterolemia: screening and dietary treatment. Arteriosclerosis. 9:(Suppl 1(1)):1989;111-120.
82. Kwiterovich P.O.J. Identification and treatment of heterozygous familial hypercholesterolemia in children and adolescents. Am. J. Cardiol. 72:1993;30D-37D.
83. Berenson G., Srinivasan S., Freedman D., Radhakrishnamurthy B., Dalferes E. Atherosclerosis and its evolution in childhood. Am. J. Med. Sci. 294:1987;429-440.
84. Celermajer D., Sorensen K., Gooch V., Spiegelhalter D., Miller O., Sulivan I., et al. Non-invasive detection of endothelial dysfunction in children and adults at risk of atherosclerosis. Lancet. 340:(ii):1992;1111-1115.
85. Drexler H., Zeiher A., Meinzer K., Just H. Correction of endothelial dysfunction in coronary microcirculation of hypercholesterolaemic patients by L-arginine. Lancet. 338:1991;1546-1550.
86. Ose L., Tonstad S. The detection and management of dyslipidaemia in children and adolescents. Acta Paediatr. 84:(11):1995;1213-1215.
87. National Cholesterol Education Program, Report of the Expert Panel on Blood Cholesterol Levels in Children and Adolescents. Pediatrics 1992;89:525-84.
88. Weststrate J.A., Meijer G.W. Plant sterol-enriched margarines and reduction of plasma total-and LDL-cholesterol concentrations in normocholesterolaemic and mildly hypercholesterolaemic subjects. Eur. J. Clin. Nutr. 1998;334-343.
89. Vuorio A.F., Gylling H., Turtola H., Kontula K., Ketonen P., Miettinen T.A. Stanol ester margarine alone and with simvastatin lowers serum cholesterol in families with familial hypercholesterolemia caused by the FH-North Karelia mutation. Arterioscler. Thromb. Vasc. Biol. 20:(2):2000;500-506.
90. Gylling H., Siimes M.A., Miettinen T.A. Sitostanol ester margarine in dietary treatment of children with familial hypercholesterolemia. J. Lipid Res. 36:(8):1995;1807-1812.
91. West R.J., Lloyd J.K., Leonard J.V. Long-term follow-up of children with familial hypercholesterolaemia treated with cholestyramine. The Lancet. 2:(8200):1980;873-875.
92. Hennermann J.B., Herwig J., Marz W., Asskali F., Bohles H.J. Lipid and lipoprotein profiles in children with familial hypercholesterolaemia: effects of therapy. Eur. J. Pediatr. 157:(11):1998;912-918.
93. Tonstad S., Knudtzon J., Sivertsen M., Refsum H., Ose L. Efficacy and safety of cholestyramine therapy in peripubertal and prepubertal children with familial hypercholesterolemia. J. Pediatr. 129:(1):1996;42-49.
94. Tonstad S., Sivertsen M., Aksnes L., Ose L. Low dose colestipol in adolescents with familial hypercholesterolaemia. Arch. Dis. Child. 74:(2):1996;157-160.
95. Stein E.A., Illingworth D.R., Kwiterovich P.O. Jr., Liacouras C.A., Siimes M.A., Jacobson M.S., et al. Efficacy and safety of lovastatin in adolescent males with heterozygous familial hypercholesterolemia: a randomized controlled trial. JAMA. 281:(2):1999;137-144.
96. Gross E., Arnold N., Goette J., Schwarz-Boeger U., Kiechle M. A comparison of BRCA1 mutation analysis by direct sequencing, SSCP and DHPLC. Hum.-Genet. 105:(1-2):1999;72-78.
97. Jones A.C., Austin J., Hansen N., Hoogendoorn B., Oefner P.J., Cheadle J., et al. Optimal temperature selection for mutation detection by denaturing HPLC and comparison to single-stranded conformation polymorphism and heteroduplex analysis. Clin. Chem. 45:(8 Pt 1):1999;1133-1140.
98. Tang K., Fu D.J., Julien D., Braun A., Cantor C.R., Koster H. Chip-based genotyping by mass spectrometry. Proc. Natl. Acad. Sci. USA. 96:(18):1999;10016-10020.
99. Gagne C., Moorjani S., Brun D., Toussaint M., Lupien P.J. Heterozygous familial hypercholesterolaemia. Atherosclerosis. 34:1979;13-24.
100. Beaumont V.B., Jacotot B., Beaumont J.-L. Ischaemic disease in men and women with familial hypercholesterolaemia and xanthomatosis. Atherosclerosis. 24:1976;441-450.
101. Jensen J., Blankenhorn D.H., Kornerup V. Coronary disease in familial hypercholesterolaemia. Circulation. 36:1967;77-82.
102. Neil H.AW., Hammond T., Huxley R., Matthews D.R., Humphries S.E. Extent of underdiagnosis of familial hypercholesterolaemia in routine practice: prospective registry study. BMJ. 321:2000;148.