Review Article| Volume 8, ISSUE 2, P173-180, March 2014

Management of familial hypercholesterolemia in children and adolescents. Position paper of the Polish Lipid Expert Forum

Published:January 21, 2014DOI:


      • In Poland, only about 20% of the population is estimated to have been diagnosed with FH.
      • The children of parents diagnosed with FH should undergo their first lipid panel tests as early as between ages 2 and 11.
      • In uncertain cases, it is always recommended to confirm FH diagnosis via genetic methods.
      • The aim of FH therapy in children is to reduce LDL-C by >50% or to maintain LDL-C levels <130 mg/dL, and in children with concomitant diabetes <100 mg/dL.
      • Statins are the first-choice agents in the treatment of FH.


      Familial hypercholesterolemia (FH) affects on average 1 in 500 individuals in European countries, and it is estimated that FH in Poland may affect more than 80,000 people. However, in Poland, only about 20% of the population is estimated to have been diagnosed with FH, of which only a small number receive adequate treatment. FH results in more rapid development of atherosclerosis and is associated with a high risk of cardiovascular events. Atherosclerosis develops beginning in childhood in patients with FH and reaches advanced stages before clinical manifestations develop. Inadequate diagnostics and treatment of FH in Polish children suggests a need for raising the level of awareness and understanding of the condition in both society and among health professionals. These recommendations present the current epidemiological status, guidelines for diagnosing FH in Polish children and adolescents, and effective treatment options.


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        • Wierzbicki A.S.
        • Humphries S.E.
        • Minhas R.
        • on behalf of the Guideline Development Group
        Familial hypercholesterolaemia: summary of NICE guidance.
        BMJ. 2008; 337: a1095
        • Cicero A.F.
        • Derosa G.
        • Maffioli P.
        • et al.
        Influence of metabolic syndrome superposition on familial combined hyperlipoproteinemia cardiovascular complication rate.
        Arch Med Sci. 2013; 9: 238-242
        • Austin M.A.
        • Hutter C.M.
        • Zimmern R.L.
        • et al.
        Familial hypercholesterolemia and coronary heart disease: a HuGE association review.
        Am J Epidemiol. 2004; 160: 421-429
      1. Expert Panel Integrated Guidelines for Cardiovascular Health and Risk Management: Summary Report.
        Pediatrics. 2011; 128: 212-258
        • Juonala M.
        • Vikari J.S.
        • Rönnemaa T.
        • et al.
        Associations of dyslipidemias from childhood to adulthood with carotid intima-media thickness, elasticity, and brachial flow mediated dilatation in adulthood: the Cardiovascular Risk in Young Finns Study.
        Arterioscler Thromb Vasc Biol. 2008; 28: 1012-1017
      2. Familial hypercholesterolemia. A report of a WHO consultation. WHO, Geneva, Switzerland1998
        • Neil A.
        • Cooper J.
        • Betteridge J.
        • et al.
        Reductions in all-cause, cancer and coronary mortality in statin-treated patients with heterozygous hypercholesterolemia: a prospective registry study.
        Eur Heart J. 2008; 29: 2625-2633
        • Pijlman A.H.
        • Huijgen R.
        • Verhagen S.N.
        • et al.
        Evaluation of cholesterol lowering treatment of patients with familial hypercholesterolemia: a large cross-sectional study in The Netherlands.
        Atherosclerosis. 2010; 209: 189-194
        • Rynkiewicz A.
        • Cybulska B.
        • Banach M.
        • et al.
        Management of familial heterozygous hypercholesterolemia: Position Paper of the Polish Lipid Expert Forum.
        J Clin Lipidol. 2013; 7: 217-221
        • Innerarity T.L.
        • Weisgraber K.H.
        • Arnold K.S.
        • et al.
        Familial defective apolipoprotein B-100: low density lipoproteins with abnormal receptor binding.
        Proc Natl Acad Sci U S A. 1987; 84: 6919-6923
        • Abifadel M.
        • Varret M.
        • Rab J.P.
        • et al.
        Mutations in PCSK9 cause autosomal dominant hypercholesterolemia.
        Nat Genet. 2003; 34: 154-156
        • Abifadel M.
        • Rabes J.P.
        • Devillers M.
        • et al.
        Mutations and polymorphisms in the proprotein convertase subtilin kexin 9 (PCSK9) gene in cholesterol metabolism and disease.
        Hum Mut. 2009; 30: 520-529
        • Varret M.
        • Abifadel M.
        • Rabes J.P.
        • et al.
        Genetic heterogeneity of autosomal dominant hypercholesterolemia.
        Clin Genet. 2008; 78: 1-13
        • Chmara M.
        • Wasąg B.
        • Żuk J.
        • et al.
        Molecular characterization of Polish patients with familial hypercholesterolemia: novel and recurrent LDLR mutations.
        Appl Genet. 2010; 51: 95-106
        • Huang C.C.
        • Fornage M.
        • Lloyd-Jones D.M.
        • et al.
        Longitudinal association of PCSK9 sequence variations with low-density lipoprotein cholesterol levels: the Coronary Artery Risk Development in Young Adults Study.
        Circ Cardiovasc Genet. 2009; 2: 354-361
        • Goldberg A.C.
        • Hopkins P.N.
        • Toth P.P.
        • 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: 133-140
        • Daniels S.R.
        • Greer FR, and the Committee on Nutrition
        Lipid screening and cardiovascular health in childhood.
        Pediatrics. 2008; 122: 198-208
      3. National Cholesterol Education Program. Report of the Expert Panel on Blood Cholesterol Levels in Children and Adolescents.
        Pediatrics. 1992; 89: 525-584
        • Kwiterovich P.O.J.
        Recognition and management of dyslipidemia in children and adolescents.
        J Clin Endocrinol Metab. 2008; 93: 4200-4209
        • Jolliffe C.J.
        • Janssen I.
        Distribution of lipoproteins by age and gender in adolescents.
        Circulation. 2006; 114: 1056-1062
        • Daniels S.R.
        • Gidding S.S.
        • de Ferranti S.D.
        Pediatric aspects of familial hypercholesterolemias: recommendations from the National Lipid Association Expert Panel on Familial Hypercholesterolemia.
        J Clin Lipidol. 2011; 5: 30-37
        • Marks D.
        • Thorogood M.
        • Neil H.A.
        • et al.
        A review on the diagnosis, natural history, and treatment of familial hypercholesterolemia.
        Atherosclerosis. 2003; 168: 1-14
        • Reiner Ž.
        • Catapano A.L.
        • De Backer G.
        • et al.
        ESC/EAS guidelines for management of dyslipidemias of the European Society of Cardiology (ESC) and the European Atherosclerosis Society (EAS).
        Eur Heart J. 2011; 32: 1769-1818
        • Ito M.K.
        • McGowan M.P.
        • Moriaty P.M.
        Management of familial hyperlipidemias in adult patients. Recommendations from National Lipid Association Expert Panel of Familial Hypercholesterolemia.
        J Clin Lipidol. 2011; 5: 38-45
        • Lifshitz F.
        Obesity in children.
        J Clin Res Pediatr Endocrinol. 2008; 1: 53-60
        • Freedman D.S.
        • Mei Z.
        • Srinivasan S.R.
        • et al.
        Cardiovascular risk factor and excess adiposity among overweight children and adolescents: the Bogalusa Heart Study.
        J Pediatr. 2007; 150: 12-17
        • Simell O.
        • Niinikoski H.
        • Rönnemaa T.
        • et al.
        Special Turku Coronary Risk Factor Intervention Project for Babies (STRIP).
        Am J Clin Nutr. 2000; 72: 1316-1331
      4. American Academy of Pediatrics, Committee on Nutrition. Cholesterol in childhood.
        Pediatrics. 1998; 101: 141-147
        • Ballantyne C.M.
        • O'Keefe J.J.H.
        • Gotto A.M.
        Dyslipidemia essentials.
        Physicians Press, Royal Oak, MI2005: 98-123
        • O'Gorman C.S.M.
        • O'Neill M.B.O.
        • Conwell L.S.
        Considering statins for cholesterol-reduction in children if lifestyle and diet changes do not improve their health: a review of the risks and benefits.
        Vasc Health Risk Manage. 2011; 7: 1-14
        • Avis H.J.
        • Vissers M.N.
        • Stein E.A.
        • et al.
        A systematic review and meta-analysis of statin therapy in children with familial hypercholesterolemia.
        Arterioscler Thromb Vasc Biol. 2007; 27: 1803-1810
        • Arambepola C.
        • Farmer A.J.
        • Perera R.
        • et al.
        Statin treatment for children and adolescents with heterozygous familial hypercholesterolaemia: a systematic review and meta-analysis.
        Atherosclerosis. 2007; 195: 339-347
        • Wiegman A.
        • Hutten B.A.
        • De Groot E.
        • et al.
        Efficacy and safety of statin therapy in children with familial hypercholesterolemia. A randomized controlled trial.
        JAMA. 2004; 292: 331-337
        • Rodenburg J.
        • Vissers M.N.
        • Wiegman A.
        • et al.
        Statin treatment in children with familial hypercholesterolemia: the younger, the better.
        Circulation. 2007; 116: 664-668
        • Goldstein J.L.
        • Hobbs H.H.
        • Brown M.S.
        Familial hypercholesterolemia.
        in: Scriver C.R. Beaudet A.L. Sly W.S. Valle D. The metabolic and molecular bases of inherited disease. McGraw-Hill, New York2001: 2863-2913
        • Myśliwiec M.
        • Walczak M.
        • Małecka-Tendera E.
        • et al.
        Postepowanie w rodzinnej hipercholesterolemii u dzieci i mlodziezy. Stanowisko Forum Ekspertów Lipidowyc.
        Kardiol Pol. 2013; 71 ([in Polish]): 1099-1105
        • Ayyobi A.F.
        • Brunzell J.D.
        Lipoprotein distribution in the metabolic syndrome, type 2 diabetes mellitus, and familial combined hyperlipidemia.
        Am J Cardiol. 2003; 92: 27J-33J
        • Hamilton-Craig I.R.
        • Watts G.F.
        Familial hypercholesterolaemia in Australia: new insights and developments.
        Med J Aust. 2013; 198: 72-73
        • Harada-Shiba M.
        • Arai H.
        • Oikawa S.
        • et al.
        Guidelines for the management of familial hypercholesterolemia.
        J Atheroscler Thromb. 2012; 19: 1043-1060
        • Rynkiewicz A.
        • Cybulska B.
        • Banach M.
        • et al.
        Management of familial heterozygous hypercholesterolaemia. Position paper of the Polish Lipid Expert Forum.
        Kardiol Pol. 2013; 71: 107-111