Familiaire Hypercholesterolaemie (FH)

Publicaties van het Emma Kinderziekenhuis en de afdeling Vasculaire Geneeskunde
van het AMC over FH bij kinderen

Pink-creamy whole blood in a 3-month-old infant with a homozygous deletion in the lipoprotein lipase gene.
Avis HJ, Scheffer HJ, Kastelein JJ, Dallinga-Thie GM, Wijburg FA. Clin Genet. 2010 May;77(5):430-3. Epub 2010 Jan 4. No abstract available.

Treatment of dyslipidaemia in childhood.
Kusters DM, Vissers MN, Wiegman A, Kastelein JJ, Hutten BA. Expert Opin Pharmacother. 2010 Apr;11(5):739-53.

Efficacy and safety of rosuvastatin therapy for children with familial hypercholesterolemia.
Avis HJ, Hutten BA, Gagné C, Langslet G, McCrindle BW, Wiegman A, Hsia J, Kastelein JJ, Stein EA. J Am Coll Cardiol. 2010 Mar 16;55(11):1121-6.

Heterozygous familial hypercholesterolaemia in childhood: cardiovascular risk prevention.
van der Graaf A, Kastelein JJ, Wiegman A. J Inherit Metab Dis. 2009 Dec;32(6):699-705. Epub 2009 Oct 31. Review.

Pregnancy in women suffering from familial hypercholesterolemia: a harmful period for both mother and newborn?
Avis HJ, Hutten BA, Twickler MT, Kastelein JJ, van der Post JA, Stalenhoef AF, Vissers MN. Curr Opin Lipidol. 2009 Dec;20(6):484-90. Review.

The use of lipid-lowering drug therapy in children and adolescents.
Avis HJ, Vissers MN, Wijburg FA, Kastelein JJ, Hutten BA. Curr Opin Investig Drugs. 2009 Mar;10(3):224-31. Review.

Efficacy and safety of coadministration of ezetimibe and simvastatin in adolescents with heterozygous familial hypercholesterolemia.
van der Graaf A, Cuffie-Jackson C, Vissers MN, Trip MD, Gagné C, Shi G, Veltri E, Avis HJ, Kastelein JJ. J Am Coll Cardiol. 2008 Oct 21;52(17):1421-9.

Atherogenic lipoprotein particle size and concentrations and the effect of pravastatin in children with familial hypercholesterolemia.
van der Graaf A, Rodenburg J, Vissers MN, Hutten BA, Wiegman A, Trip MD, Stroes ES, Wijburg FA, Otvos JD, Kastelein JJ. J Pediatr. 2008 Jun;152(6):873-8. Epub 2008 Feb 8.

Familial defective apolipoprotein B and familial hypobetalipoproteinemia in one family: two neutralizing mutations.
van der Graaf A, Fouchier SW, Vissers MN, Defesche JC, Wiegman A, Sankatsing RR, Hutten BA, Trip MD, Kastelein JJ. Ann Intern Med. 2008 May 6;148(9):712-4.

A systematic review and meta-analysis of statin therapy in children with familial hypercholesterolemia.
Avis HJ, Vissers MN, Stein EA, Wijburg FA, Trip MD, Kastelein JJ, Hutten BA. Arterioscler Thromb Vasc Biol. 2007 Aug;27(8):1803-10. Epub 2007 Jun 14. Review.

Statin treatment in children with familial hypercholesterolemia: the younger, the better.
Rodenburg J, Vissers MN, Wiegman A, van Trotsenburg AS, van der Graaf A, de Groot E, Wijburg FA, Kastelein JJ, Hutten BA. Circulation. 2007 Aug 7;116(6):664-8. Epub 2007 Jul 30.

Van Der Graaf A, Nierman MC, Firth JC, Wolmarans KH, Marais AD, De Groot E.
Efficacy and safety of fluvastatin in children and adolescents with heterozygous familial hypercholesterolaemia. Acta Paediatr. 2006 Nov;95(11):1461-6.

Roest M, Rodenburg J, Wiegman A, Kastelein JJ, Voorbij HA.
Paraoxonase genotype and carotid intima-media thickness in children with familial hypercholesterolemia.
Eur J Cardiovasc Prev Rehabil. 2006 Jun;13(3):464-6.

van der Graaf A, Hutten BA, Kastelein JJ, Vissers MN.
Premature cardiovascular disease in young women with heterozygous familial hypercholesterolemia.
Expert Rev Cardiovasc Ther. 2006 May;4(3):345-51. Review.

Rodenburg J, Vissers MN, Wiegman A, Miller ER, Ridker PM, Witztum JL, Kastelein JJ, Tsimikas S.
Oxidized low-density lipoprotein in children with familial hypercholesterolemia and unaffected siblings: effect of pravastatin.
J Am Coll Cardiol. 2006 May 2;47(9):1803-10. Epub 2006 Apr 17.

Jakulj L, Vissers MN, Rodenburg J, Wiegman A, Trip MD, Kastelein JJ.
Plant stanols do not restore endothelial function in pre-pubertal children with familial hypercholesterolemia despite reduction of low-density lipoprotein cholesterol levels.
J Pediatr. 2006 Apr;148(4):495-500.

Ueland T, Vissers MN, Wiegman A, Rodenburg J, Hutten B, Gullestad L, Ose L, Rifai N, Ridker PM, Kastelein JJ, Aukrust P, Semb AG.
Increased inflammatory markers in children with familial hypercholesterolaemia. Eur J Clin Invest. 2006 Mar;36(3):147-52.

Koeijvoets KC, Rodenburg J, Hutten BA, Wiegman A, Kastelein JJ, Sijbrands EJ.
Low-density lipoprotein receptor genotype and response to pravastatin in children with familial hypercholesterolemia: substudy of an intima-media thickness trial. Circulation. 2005 Nov 15;112(20):3168-73.

Koeijvoets KCMC, Wiegman A, Rodenburg J, Defesche JC, Kastelein JJ, Sijbrands EJ
Effect of low-density lipoprotein receptor mutation on childhood lipid profile and parental risk of cardiovascular disease.
Atherosclerosis 2005;180:93-9

Rodenburg J, Vissers MN, Trip MD, Wiegman A, Bakker HD, Kastelein JJ
The spectrum of statin therapy hyperlipidemic children.
Semin Vasc Med 2004;4:313-20.

Rodenburg J, Vissers MN, Daniels SR, Wiegman A, Kastelein JJ
Lipid-lowering Medications.
Pediatric Endocrinology Reviews 2004;2(1):171-180

Wiegman A, Hutten BA, de Groot E, Rodenburg J, Bakker HD, Buller HR, Sijbrands EJ, Kastelein JJ
Efficacy and safety of statin therapy in children with familial hypercholesterolemia: a randomized controlled trial.
JAMA. 2004 Jul 21;292(3):331-7.

Rodenburg J, Vissers MN, Wiegman A, Trip MD, Bakker HD, Kastelein JJ
Familial hypercholesterolemia in children.
Curr Opin Lipidol. 2004 Aug;15(4):405-11. Review.

Rodenburg J, Wiegman A, Vissers MN, Kastelein JJ, Stalenhoef AF
A boy with autosomal recessive hypercholesterolaemia.
Neth J Med. 2004 Mar;62(3):89-93.

Wiegman A, de Groot E, Hutten BA, Rodenburg J, Gort J, Bakker HD, Sijbrands EJ, Kastelein JJ
Arterial intima-media thickness in children heterozygous for familial hypercholesterolaemia.
Lancet. 2004 Jan 31;363(9406):369-70.

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 Sep;92(9):1096-101

Wiegman A, Sijbrands EJ, Rodenburg J, Defesche JC, de Jongh S, Bakker HD, Kastelein JJ
The apolipoprotein epsilon4 allele confers additional risk in children with familial hypercholesterolemia.
Pediatr Res. 2003 Jun;53(6):1008-12.

Wiegman A, Rodenburg J, de Jongh S, Defesche JC, Bakker HD, Kastelein JJ, Sijbrands EJ
Family history and cardiovascular risk in familial hypercholesterolemia: data in more than 1000 children.
Circulation. 2003 Mar 25;107(11):1473-8.

de Jongh S, Vissers MN, Rol P, Bakker HD, Kastelein JJ, Stroes ES
Plant sterols lower LDL cholesterol without improving endothelial function in prepubertal children with familial hypercholesterolaemia.
J Inherit Metab Dis 2003;26(4):343-51.

de Jongh S, Lilien MR, op't Roodt J, Stroes ES, Bakker HD, Kastelein JJ
Early statin therapy restores endothelial function in children with familial hypercholesterolemia.
J Am Coll Cardiol 2002 Dec 18;40(12):2117-21.

de Jongh S, Ose L, Szamosi T, Gagne C, Lambert M, Scott R, Perron P, Dobbelaere D, Saborio M, Tuohy MB, Stepanavage M, Sapre A, Gumbiner B, Mercuri M, van Trotsenburg AS, Bakker HD, Kastelein JJ; Simvastatin in Children Study Group
Efficacy and safety of statin therapy in children with familial hypercholesterolemia: a randomized, double-blind, placebo-controlled trial with simvastatin.
Circulation 2002 Oct 22;106(17):2231-7

de Jongh S, Lilien MR, Bakker HD, Hutten BA, Kastelein JJ, Stroes ES
Family history of cardiovascular events and endothelial dysfunction in children with familial hypercholesterolemia.
Atherosclerosis 2002 Jul;163(1):193-7

Trip MD, Lansberg PJ, de Jongh S, Kastelein JJ
[Familial hypercholesterolemia: recognition and prevention of cardiac complications at a young age]
Ned Tijdschr Geneeskd 2000 Jul 22;144(30):1425-8 Dutch.

Bakker HD, Wiegman A, Defesche JC, Kastelein JJ
[Is detection and treatment of familial hypercholesterolemia indicated in children?]
Ned Tijdschr Geneeskd. 1997 Dec 27;141(52):2548-51. Dutch.

Pimstone SN, Defesche JC, Clee SM, Bakker HD, Hayden MR, Kastelein JJ
Differences in the phenotype between children with familial defective apolipoprotein B-100 and familial hypercholesterolemia.
Arterioscler Thromb Vasc Biol. 1997 May;17(5):826-33.

Knipscheer HC, Boelen CC, Kastelein JJ, van Diermen DE, Groenemeijer BE, van den Ende A, Buller HR, Bakker HD
Short-term efficacy and safety of pravastatin in 72 children with familial hypercholesterolemia.
Pediatr Res. 1996 May;39(5):867-71. Erratum in: Pediatr Res 1996 Dec;40(6):866.

Gorter JW, Schilte PP, Lansberg PJ, Kastelein JJ, Bakker HD
[A patient with the homozygote form of familial hypercholesterolemia]
Tijdschr Kindergeneeskd. 1991 Jun;59(3):88-91. Dutch.

Bakker HD, Bruin T, Schaap MC, Lansberg PJ, Kastelein JJ
The prediction of the therapeutic response to cholesterol lowering drugs in an 11-year-old boy with homozygous familial hypercholesterolaemia.
J Inherit Metab Dis. 1991;14(3):389-92. No abstract available

Promoties aan de Universiteit van Amsterdam

Saskia de Jongh
Familial Hypercholesterolemia in Childhood
13 december 2002

Albert Wiegman
Pediatric Implications of Heterozygous Familial Hypercholesterolemia
1 juli 2003

Jessica Rodenburg
Familial Hypercholesterolemia in Childhood: Diagnostics, Therapeutical Options and Risk Stratification
13 september 2005