Highlights
- •Current therapy for homozygous FH does not result in persistently normal LDL-c levels.
- •Contrast cCTA may provide a reliable assessment of atherosclerosis.
- •Study of QOL during apheresis and after liver transplantation in children is needed.
- •Coronary artery atherosclerosis may regress after liver transplantation.
Abstract
Children with homozygous familial hypercholesterolemia are at risk for early cardiovascular
events secondary to coronary artery disease. Current medical therapy does not ameliorate
this risk. Liver transplantation offers the most effective option to reduce circulating
levels of low-density lipoprotein cholesterol and thereby reduce risk of cardiovascular
events. Angiographic evidence of regression of coronary artery disease is presented.
Keywords
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References
- Homozygous familial hypercholesterolemia: case series and review of the literature.Case Rep Transplant. 2011; 2011: 154908
- Liver transplantation for HoFH in children: single center experience.Congenit Heart Dis. 2015; 10: 520-528
- Familial hypercholesterolemia: report of coronary death at age 3 in a homozygous child and prenatal diagnosis in a heterozygous sibling.J Pediatr. 1982; 100: 757-759
- Liver transplantation in a subject with familial hypercholesterolemia carrying the homozygous p.W577R LDL-receptor gene mutation.Clin Transplant. 2008; 22: 180-184
- Familial hypercholesterolemia – epidemiology, diagnosis and screening.Curr Atheroscler Rep. 2015; 17: 3
- Longitudinal evaluation and assessment of cardiovascular disease in patients with homozygous familial hypercholesterolemia.Am J Cardiol. 2008; 102: 1438-1443
- Effects of liver transplantation on lipids and cardiovascular disease in children with homozygous familial hypercholesterolemia.Am J Cardiol. 2016; 118: 504-510
- Familial Hypercholesterolemia: report of a second WHO consultation. Geneva 4 September 1998. World Health Organization.
- Familial hypercholesterolemia. Acceptor splice site (G -> C) mutation in intron 7 of the LDL-R gene: alternate RNA editing causes exon 8 skipping or a premature stop codon in exon 8. LDL-RHonduras-1 [LDL-R1061( -1) G -> C].Atherosclerosis. 1999; 146: 125-131
- Familial hypercholesterolemia: a review of the natural history, diagnosis and management.Cardiol Ther. 2015; 4: 25-38
- Seven-year clinical follow-up of a Chinese homozygous familial hypercholesterolemia child with premature xanthomas and coronary artery disease – A need for early diagnosis and aggressive treatment.Int J Cardiol. 2014; 177: 188-191
- Homozygous familial hypercholesterolaemia: new insights and guidance for clinicians to improve detection and clinical management. A position paper from the Consensus Panel on Familial Hypercholesterolaemia of the European Atherosclerosis Society.Eur Heart J. 2014; 35: 2146-2157
- Reduction in mortality in subjects with homozygous familial hypercholesterolemia associated with advances in lipid-lowering therapy.Circulation. 2011; 124: 2202-2207
- Efficacy of rosuvastatin in children with homozygous familial hypercholesterolemia and association with underlying genetic mutations.J Am Coll Cardiol. 2017; 70: 1162-1170
- Homozygous familial hypercholesterolemia in childhood: genotype-phenotype description, established therapies and perspectives.Atherosclerosis. 2016; 247: 97-104
- Lomitapide and Mipomersen: two first-in-class drugs for reducing low-density lipoprotein cholesterol in patients with homozygous familial hypercholesterolemia.Circulation. 2014; 129: 1022-1032
- Chaper 31:“Genomics and Pharmacogenomics of Lipid-Lowering Therapies”.in: Panmanabhan S. Handbook of Pharmacogenomics and Stratified Medicine. Academic Press, 2014: 715-746
- Long-term treatment with evolocumab assed to conventional drug therapy, with or without apheresis, in patients with homozygous familial hypercholesteroleamia: an interim subset analysis of the open-label TAUSSIG study.Lancet Diabetes Endocrinol. 2017; 5: 280-290
- Inhibition of PCSK9 with evolocumab in homozygous familial hypercholesterolaemia (TESLA Part B): a randomized, double-blind, placebo-controlled trial.Lancet. 2015; 385: 341-350
- Efficacy, safety, and tolerability of evolocumab in pediatric patients with heterozygous familial hypercholesterolemia: rational and design of the HAUSER-RCT study.J Clin Lipidol. 2018; 12: 1199-1207
- Diagnosis and treatment of familial hypercholesterolemia.Eur Heart J. 2013; 34: 962-971
- Treating homozygous familial hypercholesterolemia in a real-world setting: experiences with lomitapide.J Clin Lipidol. 2015; 9: 607-617
- Case report: the efficacy and safety of lomitapide in a homozygous familial hypercholesterolemic child.J Clin Lipidol. 2019; 13: 397-401
- Mipomersen, an apolipoprotein B synthesis inhibitor, for lowering of LDL cholesterol concentrations in patients with homozygous familial hypercholesterolaemia: a randomized, double-blind, placebo-controlled trial.Lancet. 2010; 375: 998-1006
- Mipomersen, an apolipoprotein B synthesis inhibitor, reduces atherogenic lipoproteins in patients with severe hypercholesterolemia at high cardiovascular risk.J Am Coll Cardiol. 2013; 62: 2178-2184
- Efficacy and safety of mipomersen: a systematic review and meta-analysis of randomized clinical trials.Drugs. 2019; 79: 751-766
- Mipomersen and its use in familial hypercholesterolemia.Expert Opin Pharmacother. 2019; 20: 127-131
- Non-invasive detection of aortic and coronary atherosclerosis in homozygous familial hypercholesterolemia by 64 slice multi-detector row computed tomography angiography.Atherosclerosis. 2008; 197: 901-915
- Coronary computed tomography angiography and echocardiography in children with homozygous familial hypercholesterolemia.Atherosclerosis. 2019; 285: 87-92
- Efficacy and safety of lipoprotein apheresis in children with homozygous familial hypercholesterolemia: a systematic review.J Clin Lipidol. 2019; 13: 31-39
- Quality of life in patients treated with lipoprotein apheresis.J Clin Lipidol. 2016; 10: 323-329
- Clinical management, psychosocial characteristics, and quality of life in patients with homozygous familial hypercholesterolemia undergoing LDL-apheresis in Turkey: results of a nationwide survey (A-HIT1 registry).J Clin Lipidol. 2019; 13: 455-467
- Health-related quality of life after pediatric liver transplantation: a systematic review.Liver Transplant. 2017; 23: 361-374
- NgV. Experiences and barriers to health-related quality of life following liver transplantation: a qualitative analysis of the perspectives of pediatric patients and their parents.Health Qual Life Outcomes. 2010; 8: 150
- Familial hypercholesterolaemia in children and adolescents: gaining decades of life by optimizing detection and treatment.Eur Heart J. 2015; 36: 2425-2437
- Liver transplantation to provide low-density-lipoprotein receptors and lower plasma cholesterol in a child with homozygous familial hypercholesterolemia.N Engl J Med. 1984; 311: 1658-1664
- Preemptive liver transplantation in a child with familial hypercholesterolemia.Pediatr Transplant. 2010; 15: E25-E29
Article info
Publication history
Published online: September 25, 2019
Accepted:
September 17,
2019
Received:
April 16,
2019
Footnotes
Disclosure of prior presentation: No prior presentation.
IRB protocol: This case presentation was conducted with maternal assent and under an approved IRB protocol.
Dr Sexson submitted IRB protocol and edited final manuscript.
Identification
Copyright
© 2019 National Lipid Association. All rights reserved.
