61
Views
0
CrossRef citations to date
0
Altmetric
Review

Screening for genetic mutations in children and adolescents with dyslipidemia: importance of early identification and implications of missed diagnoses

, , &
Pages 699-710 | Received 15 Feb 2016, Accepted 11 May 2016, Published online: 06 Jun 2016

References

  • Rosamond W, Flegal K, Friday G, et al. Heart disease and stroke statistics–2007 update: a report from the American heart association statistics committee and stroke statistics subcommittee. Circulation. 2007 Feb 6;115(5):e69–171. [PubMed: 17194875].
  • Brautbar A, Leary E, Rasmussen K, et al. Genetics of familial hypercholesterolemia. Curr Atheroscler Rep. 2015 Apr;17(4):491,015–0491-z. [PubMed: 25712136].
  • Raal FJ, Pilcher GJ, Panz VR, et al. Reduction in mortality in subjects with homozygous familial hypercholesterolemia associated with advances in lipid-lowering therapy. Circulation. 2011 Nov 15;124(20):2202–2207. [PubMed: 21986285].
  • Versmissen J, Oosterveer DM, Yazdanpanah M, et al. Efficacy of statins in familial hypercholesterolaemia: a long term cohort study. BMJ. 2008 Nov 11;337:a2423. [PubMed: 19001495].
  • Goldstein JL, Schrott HG, Hazzard WR, et al. Hyperlipidemia in coronary heart disease. II. Genetic analysis of lipid levels in 176 families and delineation of a new inherited disorder, combined hyperlipidemia. J Clin Invest. 1973 Jul;52(7):1544–1568. [PubMed: 4718953].
  • Rader DJ, Cohen J, Hobbs HH. Monogenic hypercholesterolemia: new insights in pathogenesis and treatment. J Clin Invest. 2003 Jun;111(12):1795–1803. [PubMed: 12813012].
  • Ahmad Z, Adams-Huet B, Chen C, et al. Low prevalence of mutations in known loci for autosomal dominant hypercholesterolemia in a multiethnic patient cohort. Circ Cardiovasc Genet. 2012 Dec;5(6):666–675. [PubMed: 23064986].
  • Whitfield AJ, Barrett PH, Van Bockxmeer FM, et al. Lipid disorders and mutations in the APOB gene. Clin Chem. 2004 Oct;50(10):1725–1732. [PubMed: 15308601].
  • De Castro-Oros I, Pocovi M, Civeira F. The genetic basis of familial hypercholesterolemia: inheritance, linkage, and mutations. Appl Clin Genet. 2010 Aug 5;3:53–64. [PubMed: 23776352].
  • Mabuchi H, Nohara A, Noguchi T, et al. Genotypic and phenotypic features in homozygous familial hypercholesterolemia caused by proprotein convertase subtilisin/kexin type 9 (PCSK9) gain-of-function mutation. Atherosclerosis. 2014;236(1):54–61. [PubMed: 25014035].
  • Starr B, Hadfield SG, Hutten BA, et al. Development of sensitive and specific age- and gender-specific low-density lipoprotein cholesterol cutoffs for diagnosis of first-degree relatives with familial hypercholesterolaemia in cascade testing. Clin Chem Lab Med. 2008;46(6):791–803. [PubMed 18601600].
  • Ned RM, Sijbrands EJ. Cascade screening for familial hypercholesterolemia (FH). PLoS Curr. 2011 May 23;3:RRN1238. [PubMed 2163320].
  • Marks D, Wonderling D, Thorogood M, et al. Cost effectiveness analysis of different approaches of screening for familial hypercholesterolaemia. BMJ. 2002 Jun 1;324(7349):1303. [PubMed: 12039822].
  • Leren TP, Finborud TH, Manshaus TE, et al. Diagnosis of familial hypercholesterolemia in general practice using clinical diagnostic criteria or genetic testing as part of cascade genetic screening. Community Genet. 2008;11(1):26–35. [PubMed: 18196915].
  • Wang J, Joy T, Mymin D, et al. Phenotypic heterogeneity of sitosterolemia. J Lipid Res. 2004 Dec;45(12):2361–2367. [PubMed: 15375183].
  • Escola-Gil JC, Quesada H, Julve J, et al. Sitosterolemia: diagnosis, investigation, and management. Curr Atheroscler Rep. 2014 Jul;16(7):424,014–0424–2. [PubMed: 24821603].
  • Stitziel NO, Fouchier SW, Sjouke B, et al. Exome sequencing and directed clinical phenotyping diagnose cholesterol ester storage disease presenting as autosomal recessive hypercholesterolemia. Arterioscler Thromb Vasc Biol. 2013;33(12):2909–2914. [PubMed: 24072694].
  • Reiner Z, Guardamagna O, Nair D, et al. Lysosomal acid lipase deficiency–an under-recognized cause of dyslipidaemia and liver dysfunction. Atherosclerosis. 2014;235(1):21–30. [PubMed: 24792990].
  • Balwani M, Breen C, Enns GM, et al. Clinical effect and safety profile of recombinant human lysosomal acid lipase in patients with cholesteryl ester storage disease. Hepatology. 2013;58(3):950–957. [PubMed: 23348766].
  • Bjorkhem I. Cerebrotendinous xanthomatosis. Curr Opin Lipidol. 2013 Aug;24(4):283–287. [PubMed: 23759795].
  • Mignarri A, Gallus GN, Dotti MT, et al. A suspicion index for early diagnosis and treatment of cerebrotendinous xanthomatosis. J Inherit Metab Dis. 2014 May;37(3):421–429. [PubMed: 24442603].
  • Rahalkar AR, Hegele RA. Monogenic pediatric dyslipidemias: classification, genetics and clinical spectrum. Mol Genet Metab. 2008 Mar;93(3):282–294. [PubMed: 18023224].
  • Marais D. Dysbetalipoproteinemia: an extreme disorder of remnant metabolism. Curr Opin Lipidol. 2015 Aug;26(4):292–297. [PubMed: 26103610].
  • National Cholesterol Education Program (NCEP): highlights of the report of the expert panel on blood cholesterol levels in children and adolescents. Pediatrics. Mar 1992;89(3):495–501. [PubMed: 1741227].
  • Kavey RE, Allada V, Daniels SR, et al. Cardiovascular risk reduction in high-risk pediatric patients: a scientific statement from the American Heart Association Expert Panel on Population and Prevention Science; the councils on cardiovascular disease in the young, epidemiology and prevention, nutrition, physical activity and metabolism, high blood pressure research, cardiovascular nursing, and the kidney in heart disease; and the interdisciplinary working group on quality of care and outcomes research: endorsed by the American Academy of Pediatrics. Circulation. 2006 Dec 12;114(24):2710–2738. [PubMed: 17130340].
  • Daniels SR, Greer FR. Committee on nutrition. Lipid screening and cardiovascular health in childhood. Pediatrics. 2008 Jul;122(1):198–208. [PubMed: 18596007].
  • McCrindle BW, Kwiterovich PO, McBride PE, et al. Guidelines for lipid screening in children and adolescents: bringing evidence to the debate. Pediatrics. 2012 Aug;130(2):353–356. [PubMed: 22826573].
  • Expert Panel on Integrated Guidelines for Cardiovascular Health and Risk Reduction in Children and Adolescents, National Heart, Lung, and Blood Institute. Expert panel on integrated guidelines for cardiovascular health and risk reduction in children and adolescents: summary report. Pediatrics. 2011 Dec;128Suppl 5:S213–56. [PubMed: 22084329].
  • Jacobson TA, Maki KC, Orringer CE, et al. National Lipid Association recommendations for patient-centered management of dyslipidemia: part 2. J Clin Lipidol. 2015;9(6 Suppl):S1,S122.e1. [PubMed: 26699442].
  • Kelsey MM, Zaepfel A, Bjornstad P, et al. Age-related consequences of childhood obesity. Gerontology. 2014;60(3):222–228. [PubMed: 24434909].
  • Zimmet P, Alberti KG, Kaufman F, et al. The metabolic syndrome im children and adolescents – an IDF consensus report. Ped Diab. 2007;8(5):299–306. [PubMed: 17850473].
  • Rainwater DL, McMahan CA, Malcom GT, et al. Lipid and apolipoproitein predictors of atherosclerosis in youth: apolipoprotein concentrations do not materially improve prediction of arterial lesions in PDAY subjects. The PDAY Research Group. Arteriosclerosis, Thromb Vasc Biol. 1999;19(3):753–761. [PubMed: 10073983].
  • McNeal C, Underland L, Wilson DP, et al. Pediatric lipid screening. Clin Lipidology. 2013;8(4):425–426.
  • De Vries M, Klop B, Castro Cabezas M. The use of the non-fasting lipid profile for lipid-lowering therapy in clinical practice - point of view. Atherosclerosis. 2014 Jun;234(2):473–475. [PubMed: 24814412].
  • Nordestgaard BG, Benn M, Schnohr P, et al. Nonfasting triglycerides and risk of myocardial infarction, ischemic heart disease, and death in men and women. Jama. 2007 Jul 18;298(3):299–308. [PubMed: 17635890].
  • Do R, Willer CJ, Schmidt EM, et al. Common variants associated with plasma triglycerides and risk for coronary artery disease. Nat Genet. 2013;45(11):1345–1352. [PubMed: 24097064].
  • Lavigne JV, Brown KM, Gidding S, et al. A cholesterol-lowering diet does not produce adverse psychological effects in children: three-year results from the dietary intervention study in children. Health Psychol. 1999;18(6):604–613. [PubMed: 10619534].
  • Smets EM, Stam MM, Meulenkamp TM, et al. Health-related quality of life of children with a positive carrier status for inherited cardiovascular diseases. Am J Med Genet A. 2008 Mar 15;146A(6):700–707. [PubMed: 18241075].
  • Cote AT, Harris KC, Panagiotopoulos C, et al. Childhood obesity and cardiovascular dysfunction. J Am Coll Cardiol. 2013 Oct 8;62(15):1309–1319. [PubMed: 23954339].
  • Guardamagna O, Abello F, Baracco V, et al. Primary hyperlipidemias in children: effect of plant sterol supplementation on plasma lipids and markers of cholesterol synthesis and absorption. Acta Diabetol. 2011;48(2):127–133. [PubMed: 21057823].
  • Malhotra A, Shafiq N, Arora A, et al. Dietary interventions (plant sterols, stanols, omega-3 fatty acids, soy protein and dietary fibers) for familial hypercholesterolaemia. Cochrane Database Syst Rev. 2014 Jun 10;6:CD001918. [PubMed: 24913720].
  • Williams L, Wilson DP. Editorial commentary: dietary management of familial chylomicronemia syndrome. L Clin Lipidol. 2016;10(3):462–465. [PubMed: 27206931].
  • Hoelscher DM, Kirk S, Ritchie L, et al. Academy positions committee. Position of the academy of nutrition and dietetics: interventions for the prevention and treatment of pediatric overweight and obesity. J Acad Nutr Diet. 2013 Oct;113(10):1375–1394. [PubMed: 24054714].
  • Ference BA, Yoo W, Alesh I, et al. Effect of long-term exposure to lower low-density lipoprotein cholesterol beginning early in life on the risk of coronary heart disease: a Mendelian randomization analysis. J Am Coll Cardiol. 2012 Dec 25;60(25):2631–2639. [PubMed: 23083789].
  • Wiegman A, Hutten BA, De Groot E, et al. Efficacy and safety of statin therapy in children with familial hypercholesterolemia: a randomized controlled trial. JAMA. 2004 Jul 21;292(3):331–337. [PubMed: 15265847].
  • McKenney JM, Davidson MH, Jacobson TA, et al. National lipid association statin safety assessment task force. Final conclusions and recommendations of the national lipid association statin safety assessment task force. Am J Cardiol. 2006 Apr 17;97(8A):89C–94C. [PubMed: 16581336].
  • Rosenson RS, Baker SK, Jacobson TA, et al. The national lipid association’s muscle safety expert, panel. An assessment by the statin muscle safety task force: 2014 update. J Clin Lipidol. 2014 May-Jun;8(3 Suppl):S58–71. [PubMed: 24793443].
  • Jacobson TA. NLA task force on statin safety–2014 update. J Clin Lipidol. 2014 May-Jun;8(3 Suppl):S1–S4. [PubMed: 24793438].
  • FDA drug safety communication: important safety label changes to cholesterol-lowering statin drugs [Internet]. U.S. Food and Drug Administration; 2016.[ updated January 19, 2016; cited February 1, 2016]. Available from: http://www.fda.gov/drugs/drugsafety/ucm293101.htm
  • Maki KC, Ridker PM, Brown WV, et al. The diabetes subpanel of the national lipid association expert panel. An assessment by the statin diabetes safety task force: 2014 update. J Clin Lipidol. 2014 May-Jun;8(3 Suppl):S17–S29. [PubMed: 24793439].
  • Glueck CJ, Tsang RC, Fallat RW, et al. Therapy of familial hypercholesterolemia in childhood: diet and cholestyramine resin for 24 to 36 months. Pediatrics. 1977 Mar;59(3):433–441. [PubMed: 840563].
  • Glueck CJ, Mellies MJ, Dine M, et al. Safety and efficacy of long-term diet and diet plus bile acid-binding resin cholesterol-lowering therapy in 73 children heterozygous for familial hypercholesterolemia. Pediatrics. 1986 Aug;78(2):338–348. [PubMed: 3526270].
  • Elis A, Zhou R, Stein EA. Treatment of familial hypercholesterolaemia in children and adolescents in the last three decades. Cardiol Young. 2014 Jun;24(3):437–441. [PubMed: 23659280].
  • Daniels SR, Gidding SS, De Ferranti SD. National lipid association expert panel on familial hypercholesterolemia. Pediatric aspects of familial hypercholesterolemias: recommendations from the national lipid association expert panel on familial hypercholesterolemia. J Clin Lipidol. 2011 Jun;5(3Suppl):S30–S7. [PubMed: 21600527].
  • Watts GF, Gidding S, Wierzbicki AS, et al. Integrated guidance on the care of familial hypercholesterolemia from the International FH Foundation. J Clin Lipidol. 2014;8(2):148–172. [PubMed: 24636175].
  • Hegele RA. Plasma lipoproteins: genetic influences and clinical implications. Nat Rev Genet. 2009 Feb;10(2):109–121. [PubMed: 19139765].
  • Hegele RA, Ginsberg HN, Chapman MJ, et al. The polygenic nature of hypertriglyceridaemia: implications for definition, diagnosis, and management. Lancet Diabetes Endocrinol. 2014;2(8):655–666. [PubMed: 24731657].
  • Wald DS, Bestwick JP, Wald NJ. Child-parent screening for familial hypercholesterolaemia: screening strategy based on a meta-analysis. Bmj. 2007 Sep 22;335(7620):599. [PubMed: 17855284].
  • Neil A, Cooper J, Betteridge J, et al. Reductions in all-cause, cancer, and coronary mortality in statin-treated patients with heterozygous familial hypercholesterolaemia: a prospective registry study. Eur Heart J. 2008;29(21):2625–2633. [PubMed: 18840879].
  • Ito MK, McGowan MP, Moriarty PM. National lipid association expert panel on familial hypercholesterolemia. Management of familial hypercholesterolemias in adult patients: recommendations from the national lipid association expert panel on familial hypercholesterolemia. J Clin Lipidol. 2011 Jun;5(3Suppl):S38–S45. [PubMed: 21600528].
  • Cholesterol Treatment Trialists’ (CTT) Collaborators, Mihaylova B, Emberson J, Blackwell L, et al. The effects of lowering LDL cholesterol with statin therapy in people at low risk of vascular disease: meta-analysis of individual data from 27 randomised trials. Lancet. 2012 Aug 11;380(9841):581–590. [PubMed: 22607822].
  • Scientific Steering Committee on Behalf of the Simon Broome Register Group. Mortality in treated heterozygous familial hypercholesterolaemia: implications for clinical management. Atherosclerosis. 1999 Jan;142(1):105–112. [PubMed: 9920511].
  • Cohen JC, Boerwinkle E, Mosley TH Jr, et al. Sequence variations in PCSK9, low LDL, and protection against coronary heart disease. N Engl J Med. 2006 Mar 23;354(12):1264–1272. [PubMed: 16554528].
  • Kathiresan S, Melander O, Guiducci C, et al. Six new loci associated with blood low-density lipoprotein cholesterol, high-density lipoprotein cholesterol or triglycerides in humans. Nat Genet. 2008;40(2):189–197. [PubMed: 18193044].

Reprints and Corporate Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

To request a reprint or corporate permissions for this article, please click on the relevant link below:

Academic Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

Obtain permissions instantly via Rightslink by clicking on the button below:

If you are unable to obtain permissions via Rightslink, please complete and submit this Permissions form. For more information, please visit our Permissions help page.