Rader DJ. Chapter 407: Disorders of Lipoprotein Metabolism. In: Loscalzo J, Kasper DL, Longo DL, Fauci AS, Hauser SL, Jameson JL, ed. Harrison’s Principles of Internal Medicine. 21st ed. McGraw Hill; 2022:3135-3150.
Brown MS, Goldstein JL. A Receptor-Mediated Pathway for Cholesterol Homeostasis. Science. 1986;232(4746):34–47. https://doi.org/10.1126/science3513311.
Article CAS PubMed Google Scholar
Motazacker MM, Pirruccello J, Huijgen R, et al. Advances in genetics show the need for extending screening strategies for autosomal dominant hypercholesterolaemia. Eur Heart J. 2012;33:1360–6. https://doi.org/10.1093/eurheartj/ehs010.
Article CAS PubMed Google Scholar
Ison HE, Clarke SL, Knowles JW. Familial Hypercholesterolemia. 2014 Jan 2 [Updated 2022 Jul 7]. In: Adam MP, Mirzaa GM, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2023. Available from: https://www.ncbi.nlm.nih.gov/books/NBK174884/. Accessed 20 Feb 2024
Wiegman A, Gidding SS, Watts GF, et al. Familial hypercholesterolaemia in children and adolescents: gaining decades of life by optimizing detection and treatment. Eur Heart J. 2015;36:2425–37. https://doi.org/10.1093/eurheartj/ehv157.
Article CAS PubMed PubMed Central Google Scholar
Chora JR, Medeiros AM, Alves AC, Bourbon M. Analysis of publicly available LDLR, APOB, and PCSK9 variants associated with familial hypercholesterolemia: application o fACME guidelines and implications for familial hypercholesterolemia diagnosis. Genet Med. 2018;20(6):591–8. https://doi.org/10.1038/gim.2017.151.
Article CAS PubMed Google Scholar
Leigh S. The LDLR gene homepage. LOVD3 Leiden Open Variation Database. Updated August 10, 2023. Accessed October 11, 2023. https://databases.lovd.nl/shared/genes/LDLR.
Benn M, Watts GF, Tybjaerg-Hansen A, Nordestgaard BG. Mutations causative of familial hypercholesterolaemia: screening of 98,098 individuals from the Copenhagen General Population Study estimated a prevalence of 1 in 217. Eur Heart J. 2016;37:1384–94. https://doi.org/10.1093/eurheartj/ehw028.
Article CAS PubMed Google Scholar
Strum AC, Knowles JW, Gidding SS, et al. Clinical Genetic Testing for Familial Hypercholesterolemia. JACC. 2018;72(6):662–80. https://doi.org/10.1016/j.jacc.2018.05.044.
Hu P, Dharmayat KI, Stevens CA, et al. Prevalence of Familial Hypercholesterolemia Among the General Population and Patients With Atherosclerotic Cardiovascular Disease. Circulation. 2020;131:1742–59. https://doi.org/10.1161/circulationaha.119.044795.
Akioyamen LE, Genest J, Shan SD, et al. Estimating the prevalence of heterozygous familial hypercholesterolaemia: a systematic review and meta-analysis. BMJ Open. 2017;7:e016461. https://doi.org/10.1136/bmjopen-2017-016461.
Article PubMed PubMed Central Google Scholar
Nordestgaard BG, Chapman MJ, Humphries SE, et al. Familial hypercholesterolaemia is underdiagnosed and undertreated in the general population: guidance for clinicians to prevent coronary heart disease. Eur Heart J. 2013;34:3478–90. https://doi.org/10.1093/eurheartj/eht273.
Article CAS PubMed PubMed Central Google Scholar
Khera AV, Won HH, Peloso GM, et al. Diagnostic Yield and Clinical Utility of Sequencing Familial Hypercholesterolemia Genes in Patients With Severe Hypercholesterolemia. J Am Coll Cardiol. 2016;67(22):2578–89. https://doi.org/10.1016/j.jacc.2016.03.520.
Article CAS PubMed PubMed Central Google Scholar
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;128 Suppl 5(Suppl 5):S213-S256. https://doi.org/10.1542/peds.2009-2107C
Wald DS, Bestwick JP, Morris JK, et al. Child-Parent Familial Hypercholesterolemia Screening in Primary Care. N Engl J Med. 2016;375(17):1628–37. https://doi.org/10.1056/NEJMoa1602777.
Article CAS PubMed Google Scholar
Betteridge DJ, Broome K, Durrington PN, et al. Risk of fatal coronary heart disease in familial hypercholesterolaemia. BMJ. 1991;303(6807):893–6. https://doi.org/10.1136/bmj.303.6807.893.
Austin MA, Hutter CM, Zimmern RL, Humphries SE. Genetic Causes of Monogenic Heterozygous Familial Hypercholesterolemia: A HuGE Prevalence Review. Am J Epidemiol. 2004;160(5):407–20. https://doi.org/10.1093/aje/kwh236.
Gidding SS, Champagne MA, de Ferranti SD, et al. The Agenda for Familial Hypercholesterolemia: A Scientific Statement From the American Heart Association. Circulation. 2015;132:2167–92. https://doi.org/10.1161/CIR.0000000000000297.
Daniels SR, Gidding SS, de Ferranti SD. Pediatric aspects of Familial Hypercholesterolemias: Recommendations from the National Lipid Association Expert Panel on Familial Hypercholesterolemia. J Clin Lipidol. 2011;5:S30–7. https://doi.org/10.1016/j.jacl.2011.03.453.
Langstead A, Kamstrup PR, Benn M, Tybjaerg-Hansen A, Nordestgaard BG. High lipoprotein(a) as a possible cause of clinical familial hypercholesterolaemia: a prospective cohort study. Lancet Diabetes Endocrinol. 2016;4:577–87. https://doi.org/10.1016/S2213-8587(16)30042-0.
Huijgen R, Hutten BA, Kindt I, Vissers MN, Kastelein JJ. Discriminative Ability of LDL-Cholesterol to Identify Patients With Familial Hypercholesterolemia. Circ Cardiovasc Genet. 2012;5:354–9. https://doi.org/10.1161/CIRCGENETICS.111.962456.
Article CAS PubMed Google Scholar
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. CCLM. 2008;46(6):791–803. https://doi.org/10.1515/CCLM.2008.135.
Article CAS PubMed Google Scholar
Banderali G, Capra ME, Biasucci G, Stracquadaino R, Viggiano C, Pederiva C. Detecting Familial hypercholesterolemia in children and adolescents: potential and challenges. Ital J Pediatr. 2022;48:115. https://doi.org/10.1186/s13052-022-01257-y.
Article PubMed PubMed Central Google Scholar
Wald DS, Bestwick JP, Wald NJ. Child-parent screening for familial hypercholesterolaemia: screening strategy based on a meta-analysis. BMJ. 2007;335(7620):599. https://doi.org/10.1136/bmj.39300.616076.55.
Article PubMed PubMed Central Google Scholar
Vinson A, Guerra L, Hamilton L, Wilson DP. Reverse Cascade Screening for Familial Hypercholesterolemia. J Pediatr Nurs. 2019;44:50–5. https://doi.org/10.1016/j.pedn.2018.09.011.
Watts GF, Gidding SS, Hegele RA, et al. International Atherosclerosis Society guidance for implementing best practice in the care of familial hypercholesterolaemia. Nat Rev Cardiol. 2023;20:845–69. https://doi.org/10.1038/s41569-023-00892-0.
Jacobson TA, Maki KC, Orringer CE, et al. National Lipid Association Recommendations for Patient-Centered Management of Dyslipidemia: Part 2. J of Clin Lipidol. 2015;9:S1–122. https://doi.org/10.1016/j.jacl.2015.09.002.
McGowan MP, Cuchel M. Universal paediatric screening for familial hypercholesterolaemia. Lancet. 2024;403(10421):6–8. https://doi.org/10.1016/S0140-6736(23)02182-7.
de Ferranti SD, Rodday AM, Parsons SK, et al. Cholesterol Screening and Treatment Practices and Preferences: A Survey of United States Pediatricians. J Pediatr. 2017;185:99–105. https://doi.org/10.1016/j.jpeds.2016.12.078.
Cuchel M, Raal FJ, Hegele RA, et al. 2023 Update on European Atherosclerosis Society Consensus Statement on Homozygous Familial Hypercholesterolaemia: new treatments and clinical guidance. Eur Heart J. 2023;44:2277–91. https://doi.org/10.1093/eurheartj/ehad197.
Article PubMed PubMed Central Google Scholar
Cortez AB, Salvador M, Li Q, Briscoe A. Universal lipid screening in adolescents to identify familial hypercholesterolemia in a large healthcare system. J Clin Lipidol. 2023;18(2):E166–75. https://doi.org/10.1016/j.jacl.2023.11.016.
Jackson CL, Huschka T, Borah B, et al. Cost-effectiveness of cascade genetic testing for familial hypercholesterolemia in the United States. AJPC. 2021;8:100245. https://doi.org/10.1016/j.aipc.2021.100245.
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