Management of Inherited Atherogenic Dyslipidemias in Children

Therapeutic Apheresis and Dialysis

Volumn 17, Issue 2, 2013, Pages 150-161

  Guardamagna, Ornella ^a   Cagliero, Paola ^a   Abello, Francesca ^a  

^a UNIVERSITY OF TURIN   (Italy)

Author keywords

Children; Diet; Drug therapy; Dyslipidemia; Screening

Indexed keywords

ANTICONVULSIVE AGENT; ATORVASTATIN; BEZAFIBRATE; BILE ACID SEQUESTRANT; COLESEVELAM; COLESTIPOL; CORTICOSTEROID; ESTROGEN; EZETIMIBE; FENOFIBRATE; GEMFIBROZIL; HIGH DENSITY LIPOPROTEIN CHOLESTEROL; IMMUNOSUPPRESSIVE AGENT; LOW DENSITY LIPOPROTEIN CHOLESTEROL; MEVINOLIN; NICOTINIC ACID; PITAVASTATIN; PRAVASTATIN; ROSUVASTATIN; SIMVASTATIN; TRIACYLGLYCEROL;

ADOLESCENT DISEASE; AORTA ANEURYSM; BLOOD SAMPLING; CEREBROVASCULAR ACCIDENT; CHILDHOOD DISEASE; CHOLESTEROL BLOOD LEVEL; CHOLESTEROL ESTER STORAGE DISEASE; DIAGNOSTIC ERROR; DYSLIPIDEMIA; FAMILIAL HYPERCHOLESTEROLEMIA; FAMILY HISTORY; GASTROINTESTINAL SYMPTOM; GENE LOCUS; GENE MUTATION; GENETIC DISORDER; HERITABILITY; HUMAN; HYPERCHOLESTEROLEMIA; HYPERLIPIDEMIA; HYPERLIPOPROTEINEMIA TYPE 1; INHERITED ATHEROGENIC DYSLIPIDEMIA; ISCHEMIC HEART DISEASE; LIFESTYLE MODIFICATION; LIPOPROTEIN METABOLISM; OBESITY; PERIPHERAL OCCLUSIVE ARTERY DISEASE; PRACTICE GUIDELINE; PRIORITY JOURNAL; REVIEW; SAMPLING; SCREENING;

ADOLESCENT; AGE OF ONSET; ATHEROSCLEROSIS; CARDIOVASCULAR DISEASES; CHILD; DYSLIPIDEMIAS; HUMANS; MASS SCREENING; PRACTICE GUIDELINES AS TOPIC;

EID: 84875803422     PISSN: 17449979     EISSN: 17449987     Source Type: Journal    
DOI: 10.1111/j.1744-9987.2012.01146.x     Document Type: Review

References (104)

1. National Cholesterol Education Program, Third Report of the National Cholesterol Education Program (NCEP) Expert Panel on Detection, Evaluation, and Treatment of High Blood Cholesterol in Adults (Adult Treatment Panel III) Executive Summary National Cholesterol Education Program National Heart, Lung, and Blood Institute National Institutes of Health. NIH Publication No. 01-3670.2001.
2. Yusuf S, Hawken S, Ounpuu S etal. Effect of potentially modifiable risk factors associated with myocardial infarction in 52 countries (the INTERHEART study): case-control study. Lancet 2004;364:937-52.
3. Berenson GS, Srinivasan SR, Bao W, Newman 3rd WP, Tracy RE, Wattigney WA. Association between multiple cardiovascular risk factors and atherosclerosis in children and young adults. The Bogalusa Heart Study. N Engl J Med 1998;338:1650-6.
4. Kannel WB, Castelli WP, Gordon T. Cholesterol in the prediction of atherosclerotic disease. New perspectives based on the Framingham study. Ann Intern Med 1979;90:85-91.
5. Pencina MJ, D'Agostino RB Sr, Larson MG, Massaro JM, Vasan RS. Predicting the 30-year risk of cardiovascular disease: the framingham heart study. Circulation. 2009;119:3078-84. Available from URL: http://www.framinghamheartstudy.org
6. Webber LS, Osganian V, Luepker RV etal. Cardiovascular risk factors among third grade children in four regions of the United States. The CATCH Study: Child and Adolescent Trial for Cardiovascular Health. Am J Epidemiol 1995;141:428-39.
7. Webber LS, Srinivasan SR, Wattigney WA, Berenson GS. Tracking of serum lipids and lipoproteins from childhood to adulthood. The Bogalusa Heart Study. Am J Epidemiol 1991;133:884-99.
8. Porkka KV, Viikari JS, Taimela S, Dahl M, Akerblom HK. Tracking and predictiveness of serum lipid and lipoprotein measurements in childhood: a 12-year follow-up. The Cardiovascular Risk in Young Finns study. Am J Epidemiol 1994;140:1096-110.
9. Juhola J, Magnussen CG, Viikari JS etal. Tracking of serum lipid levels, blood pressure, and body mass index from childhood to adulthood: the Cardiovascular Risk in Young Finns Study. J Pediatr 2011;159:584-90.
10. Lauer RM, Clarke WR. Use of cholesterol measurements in childhood for the prediction of adult hypercholesterolemia. The Muscatine Study. JAMA 1999;264:3034-8.
11. Stary HC, Chandler AB, Glagov S etal. A definition of initial, fatty streak, and intermediate lesions of atherosclerosis. A report from the Committee on Vascular Lesions of the Council on Arteriosclerosis, American Heart Association. Circulation 1994;89:2462-78.
12. Berenson GS, Wattigney WA, Tracy RE etal. Atherosclerosis of the aorta and coronary arteries and cardiovascular risk factors in persons aged 6 to 30 years and studied at necropsy (The Bogalusa Heart Study). Am J Cardiol 1992;70:851-8.
13. Strong JP, Malcom GT, Newman WP 3rd, Oalmann MC. Early lesions of atherosclerosis in childhood and youth: natural history and risk factors. J Am Coll Nutr 1992;11:51S-4S.
14. McGill HC Jr, McMahan CA, Zieske AW etal. Associations of coronary heart disease risk factors with the intermediate lesion of atherosclerosis in youth. The Pathobiological Determinants of Atherosclerosis in Youth (PDAY) Research Group. Arterioscler Thromb Vasc Biol 2000;20:1998-2004.
15. Aggoun Y, Bonnet D, Sidi D etal. Arterial mechanical changes in children with familial hypercholesterolemia. Arterioscler Thromb Vasc Biol 2000;20:2070-5.
16. Martino F, Loffredo L, Carnevale R etal. Oxidative stress is associated with arterial dysfunction and enhanced intima-media thickness in children with hypercholesterolemia: the potential role of nicotinamide-adenine dinucleotide phosphatase oxidase. Pediatrics 2008;122:e648-e655.
17. Guardamagna O, Abello F, Saracco P, Baracco V, Rolfo E, Pirro M. Endothelial activation, inflammation and premature atherosclerosis in children with familial dyslipidemia. Atherosclerosis 2009;207:471-5.
18. Charakida M, Deanfield JE, Halcox JP. Childhood origins of arterial disease. Curr Opin Pediatr 2007;19:538-45.
19. Pauciullo P, Iannuzzi A, Sartorio R etal. Increased intima-media thickness of the common carotid artery in hypercholesterolemic children. Arterioscler Thromb 1994;14:1075-9.
20. Virkola K, Pesonen E, Akerblom HK, Siimes MA. Cholesterol and carotid artery wall in children and adolescents with familial hypercholesterolemia: a controlled study by ultrasound. Acta Paediatr 1997;86:1203-7.
21. Järvisalo MJ, Jartti L, Näntö-Salonen K etal. Increased aortic intima-media thickness: a marker of preclinical atherosclerosis in high-risk children. Circulation 2001;104:2943-7.
22. Celermajer DS, Sørensen KE, Gooch VM etal. Non-invasive detection of endothelial dysfunction in children and adults at risk of atherosclerosis. Lancet 1992;340:1111-511.
23. Labarthe DR, Nichaman MZ, Harrist RB, Grunbaum JA, Dai S. Development of cardiovascular risk factors from ages 8 to 18 in Project HeartBeat! Study design and patterns of change in plasma total cholesterol concentration. Circulation 1997;95:2636-42.
24. Freedman DS, Bowman BA, Srinivasan SR, Berenson GS, Otvos JD. Distribution and correlates of high-density lipoprotein subclasses among children and adolescents. Metabolism 2001;50:370-6.
25. Srinivasan SR, Myers L, Berenson GS. Distribution and correlates of non-high-density lipoprotein cholesterol in children: the Bogalusa Heart Study. Pediatrics 2002;110:e29.
26. Jolliffe CJ, Janssen I. Distribution of lipoproteins by age and gender in adolescents. Circulation 2006;114:1056-62.
27. Daniels SR, Greer FR, Committee on Nutrition. Lipid screening and cardiovascular health in childhood. Pediatrics 2008;122:198-208.
28. Spinneker A, Egert S, González-Gross M etal.; HELENA Study Group. Lipid, lipoprotein and apolipoprotein profiles in European adolescents and its associations with gender, biological maturity and body fat-the HELENA Study. Eur J Clin Nutr 2012;66:727-35.
29. Rahalkar AR, Hegele RA. Monogenic pediatric dyslipidemias: classification, genetics and clinical spectrum. Mol Genet Metab 2008;93:282-94.
30. Goldstein JL, Hobbs HH, Brown MS. Familial hypercholesterolemia. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The Metabolic and Molecular Bases of Inherited Disease 7th edn. New York: Mc Graw-Hill, 1995; 1981-2030.
31. Wiegman A, Rodenburg J, de Jongh S etal. Family history and cardiovascular risk in familial hypercholesterolemia: data in more than 1000 children. Circulation 2003;107:1473-8.
32. Scientific Steering Committee on behalf of the Simon Broome Register Group. Risk of fatal coronary heart disease in familial hypercholesterolaemia. BMJ 1991;303:893-6.
33. Williams RR, Hunt SC, Schumacher C, Hegele RA etal. Diagnosing heterozygous familial hypercholesterolemia using new practical criteria validated by molecular genetics. Am J Cardiol 1993;72:171-6.
34. World Health Organization. Familial Hypercholesterolaemia. Report of A Second WHO Consultation. Geneva: World Health Organization, 1999.
35. van der Graaf A, Avis HJ, Kusters DM etal. Molecular basis of autosomal dominant hypercholesterolemia: assessment in a large cohort of hypercholesterolemic children. Circulation 2011;123:1167-73.
36. Guardamagna O, Restagno G, Rolfo E etal. The type of LDLR gene mutation predicts the cardiovascular risk in children with familial hypercholesterolemia. J Pediatr 2009;155:199-204.
37. Gudnason V, Sigurdsson G, Nissen H, Humphries SE. Common founder mutation in the LDL receptor gene causing familial hypercholesterolaemia in the Icelandic population. Hum Mutat 1997;10:36-44.
38. Rubinsztein DC, van der Westhuyzen DR, Coetzee GA. Monogenic primary hypercholesterolaemia in South Africa. S Afr Med J 1994;84:339-44.
39. Moorjani S, Roy M, Gagne C etal. Homozygous familial hypercholesterolemia among French Canadians in Quebec Province. Arteriosclerosis 1989;9:211-16.
40. Aalto-Setala K, Koivisto U-M, Miettinen TA etal. Prevalence and geographical distribution of major LDL receptor gene re- arrangements in Finland. J Intern Med 1992;231:227-34.
41. Lehrman MA, Schneider WJ, Brown MS etal. The Lebanese allele at the low density lipoprotein receptor locus: nonsense mutation produces truncated receptor that is retained in endoplasmic reticulum. J Biol Chem 1987;262:401-10.
42. Innerarity TL, Mahley RW, Weisgraber KH etal. Familial defective apolipoprotein B-100: a mutation of apolipoprotein B that causes hypercholesterolemia. J Lipid Res 1990;31:1337-49.
43. Abifadel M, Varret M, Rabes JP etal. Mutations in PCSK9 cause autosomal dominant hypercholesterolemia. Nat Genet 2003;34:154-6.
44. Garcia CK, Wilund K, Arca M etal. Autosomal recessive hypercholesterolemia caused by mutations in a putative LDL receptor adaptor protein. Science 2001;292:1394-8.
45. Berge KE, Tian H, Graf GA etal. Accumulation of dietary cholesterol in sitosterolemia caused by mutations in adjacent ABC transporters. Science 2000;290:1771-5.
46. Mannucci L, Guardamagna O, Bertucci P etal. Beta-sitosterolemia; a new non-sense mutation in the ABCG5 gene. Eur J Clin Invest 2007;37:997-1000.
47. Previato L, Guardamagna O, Dugi KA etal. A novel missense mutation in the C-terminal domain of lipoprotein lipase (Glu410 to Val) leads to enzyme inactivation and familial chylomicronemia. J Lipid Res 1994;35:1552-60.
48. Stefanutti C, Di Giacomo S, Labbadia G. Timing clinical events in the treatment of pancreatitis and hypertriglyceridemia with therapeutic plasmapheresis. Transfus Apher Sci 2011;45:3-7.
49. Johansen CT, Hegele RA. Genetic bases of hypertriglyceridemic phenotypes. Curr Opin Lipidol 2011;22:247-53.
50. Assmannm G, Seedorf U. Acid lipase deficiency: wolman disease and cholesterylester storage disease. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The Metabolic and Molecular Bases of Inherited Disease. New York: McGraw-Hill, 2001; 3551-72.
51. Fasano T, Pisciotta L, Bocchi L etal. Lysosomal lipase deficiency: molecular characterization of eleven patients with Wolman or cholesteryl ester storage disease. Mol Genet Metab 2012;105:450-6.
52. Krivit W, Peters C, Dusenbery K etal. Wolman disease successfully treated by bone marrow transplantation. Bone Marrow Transplant 2000;26:567-70.
53. Tolar J, Petryk A, Khan K etal. Long-term metabolic, endocrine, and neuropsychological outcome of hematopoietic cell transplantation for Wolman disease. Bone Marrow Transplant 2009;43:21-7.
54. Gramatges MM, Dvorak CC, Regula DP, Enns GM, Weinberg K, Agarwal R. Pathological evidence of Wolman's disease following hematopoietic stem cell transplantation despite correction of lysosomal acid lipase activity. Bone Marrow Transplant 2009;44:449-50.
55. Muntoni S, Wiebusch H, Jansen-Rust M etal. Prevalence of cholesteryl ester storage disease. Arterioscler Thromb Vasc Biol 2007;27:1866-8.
56. von Eckardstein A. Differential diagnosis of familial high density lipoprotein syndromes. Atherosclerosis 2006;186:231-9.
57. Rosenson RS, Brewer HB Jr, Chapman MJ etal. HDL measures particle heterogeneity, proposed nomenclature, and relation to atherosclerotic cardiovascular events. Clin Chem 2011;57:392-410.
58. Pisciotta L, Bocchi L, Candini C etal. Severe HDL deficiency due to novel defects in the ABCA1 transporter. J Intern Med 2009;265:359-72.
59. Calabresi L, Simonelli S, Gomaraschi M, Franceschini G. Genetic lecitin:cholesterol acyl transferase deficiency and cardiovascular disease. Atherosclerosis 2012;222:299-306.
60. National Cholesterol Education Program. Report of the expert panel on blood cholesterol levels in children and adolescents. Pediatrics 1992;89(Suppl):525-84.
61. American Academy of Pediatrics, Committee on Nutrition. Cholesterol in childhood. Pediatrics 1998;101:141-7.
62. Avis HJ, Vissers MN, Stein EA etal. A systematic review and meta-analysis of statin therapy in children with familial hypercholesterolemia. Arterioscler Thromb Vasc Biol 2007;27:1803-10.
63. Wiegman A, Hutten BA, de Groot E etal. Efficacy and safety of statin therapy in children with familial hypercholesterolemia a randomized controlled trial. JAMA 2004;292:331-7.
64. National Institute for Health and Clinical Excellence. Clinical guidelines and evidence review for familial hypercholesterolaemia: the identification and management of adults and children with familial hypercholesterolaemia. 2008 (Clinical guideline 71). Available from URL: http://www.nice.org.uk/CG71
65. Expert Panel on Integrated Guidelines for Cardiovascular Health and Risk Reduction in Children and Adolescents: Summary Report. American Academy of Pediatrics. Pediatrics 2011;128(Suppl 5):S1-S44.
66. Ritchie SK, Murphy EC, Ice C etal. Universal versus targeted blood cholesterol screening among youth. Pediatrics 2010;126:260-5.
67. Hadfield SG, Humphries SE. Implementation of cascade testing for the detection of familial hypercholesterolaemia. Curr Opin Lipidol 2005;16:428-33.
68. Marks D, Wonderling D, Thorogood M etal. Cost effectiveness analysis of different approaches of screening for familial hypercholesterolemia. BMJ 2002;324:1303.
69. Wald DS, Bestwick JP, Wald NJ. Child-parent screening for familial hypercholesterolaemia: screening strategy based on a meta-analysis. BMJ 2007;335:599-607.
70. Kusters DM, de Beaufort C, Vidhalm K etal. Paediatric screening for hypercholesterolemia in Europe. Arch Dis Child 2012;97:272-6.
71. Braamskamp MJAM, Wijburg FA, Wiegman A. Drug therapy of hypercholesterolemia in children and adolescents. Drugs 2012;72:759-72.
72. Stefanutti C, Mazza F. Multiple lipid-lowering treatment in pediatric patients with hyperlipidemia. Med Chem 2012; 8, epub ahead of print.
73. Sanchez-Bayle M, Soriano-Guillen L. Influence of dietary intervention on growth in children with hypercholesterolaemia. Acta Pediatr 2003;92:1043-6.
74. Sirtori CR, Agradi E, Mantero O etal. Soybean protein diet in the treatment of type II hyperlipoproteinemia. Lancet 1977;i:275-7.
75. Gaddi A, Descovich GC, Noseda G etal. Hypercholesterolemia treated by soybean protein diet. Arch Dis Child 1987;62:274-8.
76. Kwiterovich PO. The role of fiber in the treatment of hypercholesterolemia in children and adolescents. Pediatrics 1995;96:1005-9.
77. Sood N, Baker WL, Coleman CI. Effect of glucomannan on plasma lipid and glucose concentrations, body weight, and blood pressure: systematic review and meta-analysis. Am J Clin Nutr 2008;88:1167-75.
78. Ketomaki AM, Gylling H, Antikainen M, Siimes MA, Miettinen TA. Red cell and plasma plant stanol and sterol ester spreads in children with hypercholesterolemia. J Pediatr 2003;142:524-31.
79. Guardamagna O, Abello F, Baracco V etal. Primary hyperlipidemias in children: effect of plant sterol supplementation on plasma lipids and markers of cholesterol synthesis and absorption. Acta Diabetol 2011;48:127-33.
80. Jilling H, Miettinen TA. Cholesterol reduction by different plant stanol mixtures and with variable fat intake. Metabolism 1999;48:575-80.
81. Plat J, Mensink RP. Effects of diets enriched with two different plant stanol ester mixtures on plasma ubiquinol-10 and fat-soluble antioxidant concentrations. Metabolism 2002;50:520-9.
82. Jakulj L, Vissers MN, Rodenburg J, Wiegman A, Trip MD, Kastelein JJP. Plant stanols do not restore endothelial function in prepubertal children with familial hypercholesterolemia despite reduction of low-density lipoprotein cholesterol levels. J Pediatr 2006;148:495-500.
83. Davidson MH. A systematic review of bile acid sequestrant therapy in children with familial hypercholesterolemia. J Clin Lipidol 2011;5:76-81.
84. de Ferranti S, Ludwig DS. Storm over statins-the controversy surrounding pharmacologic treatment of children. N Engl J Med 2009;359:1309-12.
85. Hedman M, Matikainen T, Föhr A etal. Efficacy and safety of pravastatin in children and adolescents with heterozygous familial hypercholesterolemia: a prospective clinical follow-up study. J Clin Endocrinol Metab 2005;90:1942-52.
86. Vuorio A, Kuoppala J, Kovanen PT etal. Statins for children with familial hypercholesterolemia. Cochrane Database Syst Rev 2010;(7):CD006401.
87. de Jongh S, Lilien MR, op't Roodt J etal. Early statin therapy restores endothelial function in children with familial hypercholesterolemia. J Am Coll Cardiol 2002;40:2117-21.
88. Rodenburg J, Vissers MN, Wiegman A etal. Statin treatment in children with familial hypercholesterolemia. The younger, the better. Circulation 2007;116:664-8.
89. de Jongh S, Ose L, Szamosi T etal. Efficacy and safety of statin therapy in children with familial hypercholesterolemia. A randomized, double-blind, placebo-controlled trial with simvastatin. Circulation 2002;106:2231-7.
90. Jose J, Saravu K, Shastry BA. Atorvastatin-induced early-onset rhabdomyolysis in a patient with nephrotic syndrome. Am J Health Syst Pharm 2007;64:726-9.
91. de Jongh S, Kerckhoffs MC, Grootenhuis MA, Bakker HD, Heymans HS, Last BF. Quality of life, anxiety and concerns among statin-treated children with familial hypercholesterolaemia and their parents. Acta Paediatr 2003;92:1096-101.
92. Clauss S, Wai KM, Kavey REW, Kuehl K. Ezetimibe treatment of pediatric patients with hypercholesterolemia. J Pediatr 2009;154:869-72.
93. Yeste D, Chacón P, Clemente M, Albisu MA, Gussinyé M, Carrascosa A. Ezetimibe as monotherapy in the treatment of hypercholesterolemia in children and adolescents. J Pediatr Endocrinol Metab 2009;22:487-92.
94. van der Graaf A, Cuffie-Jackson C, Wissers MN etal. Efficacy and safety of coadministration of ezetimibe and simvastatin in adolescents with heterozygous familial hyphercholesterolemia. J Am Coll Cardiol 2008;52:1421-9.
95. Salen G, von Bergmann K, Lütjohann D etal. Ezetimibe effectively reduces plasma plant sterols in patients with sitosterolemia. Circulation 2004;109:966-71.
96. Stefanutti C, Vivenzio A, Di Giacomo S etal. Aorta and coronary angiographic follow-up of children with severe hypercholesterolemia treated with LDL apheresis. Transfusion 2009;49:1461-70.
97. Raper A, Kolansky DM, Cuchel M. Treatment of familial hypercholesterolemia: is there a need beyond statin therapy? Curr Atheroscler Rep 2012;14:11-6.
98. Hudgins LC, Kleinman B, Scheuer A etal. Long-term safety and efficacy of low-density lipoprotein apheresis in childhood for homozygous familial hypercholesterolemia. Am J Cardiol 2008;102:1199-204.
99. Palcoux JB, Atassi-Dumont M, Lefevre P etal. Low-density lipoprotein apheresis in children with familial hypercholesterolemia: follow-up to 21 years. Ther Apher Dial 2008;12:195-201.
100. Tamai O, Matsuoka H, Itabe H etal. Single LDL apheresis improves endothelium-dependent vasodilatation in hypercholesterolemic humans. Circulation 1997;95:76-82.
101. Igarashi K, Tsuji M, Nishimura M etal. Improvement of endothelium-dependent coronary vasodilation after a single LDL apheresis in patients with hypercholesterolemia. J Clin Apher 2004;19:11-16.
102. Manlhiot C, Larsson P, Gurofsky RC etal. Spectrum and management of hypertrglyceridemia among children in clinical practice. Pediatrics 2009;123:458-65.
103. Ewald N, Kloer HU. Severe hypertriglyceridemia: an indication for apheresis? Atheroscler Suppl 2009;10:49-52.
104. Stefanutti C, Lanti A, Di Giacomo S etal. Therapeutic apheresis in low weight patients: technical feasibility, tolerance, compliance, and risks. Transfus Apher Sci 2004;31:3-10.