International Atherosclerosis Society guidance for implementing best practice in the care of familial hypercholesterolaemia.
Journal
Nature reviews. Cardiology
ISSN: 1759-5010
Titre abrégé: Nat Rev Cardiol
Pays: England
ID NLM: 101500075
Informations de publication
Date de publication:
Dec 2023
Dec 2023
Historique:
accepted:
12
05
2023
medline:
15
11
2023
pubmed:
16
6
2023
entrez:
15
6
2023
Statut:
ppublish
Résumé
This contemporary, international, evidence-informed guidance aims to achieve the greatest good for the greatest number of people with familial hypercholesterolaemia (FH) across different countries. FH, a family of monogenic defects in the hepatic LDL clearance pathway, is a preventable cause of premature coronary artery disease and death. Worldwide, 35 million people have FH, but most remain undiagnosed or undertreated. Current FH care is guided by a useful and diverse group of evidence-based guidelines, with some primarily directed at cholesterol management and some that are country-specific. However, none of these guidelines provides a comprehensive overview of FH care that includes both the lifelong components of clinical practice and strategies for implementation. Therefore, a group of international experts systematically developed this guidance to compile clinical strategies from existing evidence-based guidelines for the detection (screening, diagnosis, genetic testing and counselling) and management (risk stratification, treatment of adults or children with heterozygous or homozygous FH, therapy during pregnancy and use of apheresis) of patients with FH, update evidence-informed clinical recommendations, and develop and integrate consensus-based implementation strategies at the patient, provider and health-care system levels, with the aim of maximizing the potential benefit for at-risk patients and their families worldwide.
Identifiants
pubmed: 37322181
doi: 10.1038/s41569-023-00892-0
pii: 10.1038/s41569-023-00892-0
doi:
Substances chimiques
Cholesterol
97C5T2UQ7J
Types de publication
Journal Article
Review
Langues
eng
Sous-ensembles de citation
IM
Pagination
845-869Informations de copyright
© 2023. Springer Nature Limited.
Références
Defesche, J. C. et al. Familial hypercholesterolaemia. Nat. Rev. Dis. Prim. 3, 17093 (2017).
pubmed: 29219151
doi: 10.1038/nrdp.2017.93
Watts, G. F. et al. Familial hypercholesterolaemia: evolving knowledge for designing adaptive models of care. Nat. Rev. Cardiol. 17, 360–377 (2020).
pubmed: 31974482
doi: 10.1038/s41569-019-0325-8
Ference, B. A. et al. Low-density lipoproteins cause atherosclerotic cardiovascular disease. 1. Evidence from genetic, epidemiologic, and clinical studies. A consensus statement from the European Atherosclerosis Society Consensus Panel. Eur. Heart J. 38, 2459–2472 (2017).
pubmed: 28444290
pmcid: 5837225
doi: 10.1093/eurheartj/ehx144
Beheshti, S. O., Madsen, C. M., Varbo, A. & Nordestgaard, B. G. Worldwide prevalence of familial hypercholesterolemia: meta-analyses of 11 million subjects. J. Am. Coll. Cardiol. 75, 2553–2566 (2020).
pubmed: 32439005
doi: 10.1016/j.jacc.2020.03.057
Beheshti, S., Madsen, C. M., Varbo, A., Benn, M. & Nordestgaard, B. G. Relationship of familial hypercholesterolemia and high LDL cholesterol to ischemic stroke: the Copenhagen General Population Study. Circulation 138, 578–589 (2018).
pubmed: 29593013
doi: 10.1161/CIRCULATIONAHA.118.033470
Svendsen, K. et al. Risk of stroke in genetically verified familial hypercholesterolemia: a prospective matched cohort study. Atherosclerosis 358, 34–40 (2022).
pubmed: 36084445
doi: 10.1016/j.atherosclerosis.2022.08.015
Centers for Disease Control and Prevention. Tier 1 Genomic Applications Toolkit for Public Health Departments. CDC https://www.cdc.gov/genomics/implementation/toolkit/index.htm (2014).
Hu, P. et al. Prevalence of familial hypercholesterolemia among the general population and patients with atherosclerotic cardiovascular disease: a systematic review and meta-analysis. Circulation 141, 1742–1759 (2020).
pubmed: 32468833
doi: 10.1161/CIRCULATIONAHA.119.044795
Ray, K. et al. World Heart Federation Cholesterol Roadmap 2022. Glob. Heart 17, 75 (2022).
pubmed: 36382159
pmcid: 9562775
doi: 10.5334/gh.1154
Grundy, S. M. et al. 2018 AHA/ACC/AACVPR/AAPA/ABC/ACPM/ADA/AGS/APhA/ASPC/NLA/PCNA Guideline on the Management of Blood Cholesterol. A Report of the American College of Cardiology/American Heart Association Task Force on Clinical Practice Guidelines. J. Am. Coll. Cardiol. 73, e285–e350 (2019).
pubmed: 30423393
doi: 10.1016/j.jacc.2018.11.003
Mach, F. et al. 2019 ESC/EAS Guidelines for the management of dyslipidaemias: lipid modification to reduce cardiovascular risk: The Task Force for the Management of Dyslipidaemias of the European Society of Cardiology (ESC) and European Atherosclerosis Society (EAS). Eur. Heart J. 41, 111–188 (2020).
pubmed: 31504418
doi: 10.1093/eurheartj/ehz455
National Institute for Health and Clinical Excellence. NICE Clinical Guideline 71: Familial hypercholesterolaemia: identification and management. NICE https://www.nice.org.uk/guidance/cg71/chapter/recommendations (2019).
Wiegman, A. et al. Familial hypercholesterolaemia in children and adolescents: gaining decades of life by optimizing detection and treatment. Eur. Heart J. 36, 2425–2437 (2015).
pubmed: 26009596
pmcid: 4576143
doi: 10.1093/eurheartj/ehv157
Ramaswami, U. et al. Current management of children and young people with heterozygous familial hypercholesterolaemia — HEART UK statement of care. Atherosclerosis 290, 1–8 (2019).
pubmed: 31536851
doi: 10.1016/j.atherosclerosis.2019.09.005
de Ferranti, S. D. et al. Cardiovascular risk reduction in high-risk pediatric patients: a scientific statement from the American Heart Association. Circulation 139, e603–e634 (2019).
pubmed: 30798614
doi: 10.1161/CIR.0000000000000618
Gidding, S. S. et al. The agenda for familial hypercholesterolemia — a scientific statement from the American Heart Association. Circulation 132, 2167–2192 (2015).
pubmed: 26510694
doi: 10.1161/CIR.0000000000000297
Watts, G. F. et al. Integrated guidance for enhancing the care of familial hypercholesterolaemia in Australia. Heart Lung Circ. 30, 324–349 (2021).
pubmed: 33309206
doi: 10.1016/j.hlc.2020.09.943
Cuchel, M. et al. 2023 Update on European Atherosclerosis Society Consensus Statement on Homozygous Familial Hypercholesterolaemia: new treatments and clinical guidance. Eur. Heart J. https://doi.org/10.1093/eurheartj/ehad197 (2023).
doi: 10.1093/eurheartj/ehad197
pubmed: 37130090
pmcid: 10314327
Santos, R. D. et al. Clinical and molecular aspects of familial hypercholesterolemia in Ibero-American countries. J. Clin. Lipidol. 11, 160–166 (2017).
pubmed: 28391882
doi: 10.1016/j.jacl.2016.11.004
Pang, J. et al. Comparative aspects of the care of familial hypercholesterolemia in the ‘Ten Countries Study’. J. Clin. Lipidol. 13, 287–300 (2019).
pubmed: 30797720
doi: 10.1016/j.jacl.2019.01.009
Vallejo-Vaz, A. J. et al. Global perspective of familial hypercholesterolaemia: a cross-sectional study from the EAS Familial Hypercholesterolaemia Studies Collaboration (FHSC). Lancet 398, 1713–1725 (2021).
doi: 10.1016/S0140-6736(21)01122-3
Tromp, T. R. et al. Worldwide experience of homozygous familial hypercholesterolaemia: retrospective cohort study. Lancet 399, 719–728 (2022).
pubmed: 35101175
pmcid: 10544712
doi: 10.1016/S0140-6736(21)02001-8
Representatives of the Global Familial Hypercholesterolemia Community. Reducing the clinical and public health burden of familial hypercholesterolemia — a global call to action. JAMA Cardiol. 5, 217–229 (2020).
doi: 10.1001/jamacardio.2019.5173
Groselj, U., Wiegman, A. & Gidding, S. S. Screening in children for familial hypercholesterolaemia: start now. Eur. Heart J. 43, 3209–3212 (2022).
pubmed: 35511818
doi: 10.1093/eurheartj/ehac224
Vallejo-Vaz, A. J. et al. Familial hypercholesterolaemia: a global call to arms. Atherosclerosis 243, 257–259 (2015).
pubmed: 26408930
doi: 10.1016/j.atherosclerosis.2015.09.021
Wei, N. et al. A bibliometric analysis of familial hypercholesterolemia from 2011 to 2021. Curr. Probl. Cardiol. https://doi.org/10.1016/j.cpcardiol.2022.101151 (2022).
doi: 10.1016/j.cpcardiol.2022.101151
pubmed: 35545178
Nieuwlaat, R., Schwalm, J.-D., Khatib, R. & Yusuf, S. Why are we failing to implement effective therapies in cardiovascular disease? Eur. Heart J. 34, 1262–1269 (2013).
pubmed: 23376448
doi: 10.1093/eurheartj/ehs481
Uchmanowicz, I. et al. Optimising implementation of European guidelines on cardiovascular disease prevention in clinical practice: what is needed? Eur. J. Prev. Cardiol. 28, 426–431 (2021).
pubmed: 33611449
doi: 10.1177/2047487320926776
Jones, L. K., Brownson, R. C. & Williams, M. S. Applying implementation science to improve care for familial hypercholesterolemia. Curr. Opin. Endocrinol. Diabetes Obes. 29, 141–151 (2022).
pubmed: 34839326
doi: 10.1097/MED.0000000000000692
Bauer, M. S. & Kirchner, J. Implementation science: what is it and why should I care? Psychiatry Res. 283, 112376 (2020).
pubmed: 31036287
doi: 10.1016/j.psychres.2019.04.025
O’Shea, R., Ma, A. S., Jamieson, R. V. & Rankin, N. M. Precision medicine in Australia: now is the time to get it right. Med. J. Aust. 217, 559–563 (2022).
pubmed: 36436133
pmcid: 10100177
doi: 10.5694/mja2.51777
Sarkies, M. N., Jones, L. K., Gidding, S. S. & Watts, G. F. Improving clinical practice guidelines with implementation science. Nat. Rev. Cardiol. 19, 3–4 (2022).
pubmed: 34799708
doi: 10.1038/s41569-021-00645-x
Migliara, G. et al. Familial hypercholesterolemia: a systematic review of guidelines on genetic testing and patient management. Front. Public Health 5, 252 (2017).
pubmed: 28993804
pmcid: 5622145
doi: 10.3389/fpubh.2017.00252
Brouwers, M. C. et al. Development and validation of a tool to assess the quality of clinical practice guideline recommendations. JAMA Netw. Open 3, e205535 (2020).
pubmed: 32459354
pmcid: 7254179
doi: 10.1001/jamanetworkopen.2020.5535
Jacobson, T. A. et al. National lipid association recommendations for patient-centered management of dyslipidemia: part 1 — full report. J. Clin. Lipidol. 9, 129–169 (2015).
pubmed: 25911072
doi: 10.1016/j.jacl.2015.02.003
Guyatt, G. H. et al. GRADE: an emerging consensus on rating quality of evidence and strength of recommendations. Br. Med. J. 336, 924–926 (2008).
doi: 10.1136/bmj.39489.470347.AD
Powell, B. J. et al. A refined compilation of implementation strategies: results from the Expert Recommendations for Implementing Change (ERIC) project. Implement. Sci. 10, 21 (2015).
pubmed: 25889199
pmcid: 4328074
doi: 10.1186/s13012-015-0209-1
Wilson, J. M. G. & Jungner, G. Principles and practice of screening for disease. WHO Chron. 22, 473 (1968).
Andermann, A., Blancquaert, I., Beauchamp, S. & Déry, V. Revisiting Wilson and Jungner in the genomic age: a review of screening criteria over the past 40 years. Bull. World Health Organ. 86, 317–319 (2008).
pubmed: 18438522
pmcid: 2647421
doi: 10.2471/BLT.07.050112
Falkner, B. & Gidding, S. Life-course implications of pediatric risk factors for cardiovascular disease. Can. J. Cardiol. 37, 766–775 (2021).
pubmed: 33581191
doi: 10.1016/j.cjca.2021.02.001
Luirink, I. et al. 20-Year follow-up of statins in children with familial hypercholesterolaemia. N. Engl. J. Med. 381, 1547–1556 (2019).
pubmed: 31618540
doi: 10.1056/NEJMoa1816454
Ibrahim, S., Reeskamp, L. F., Stroes, E. S. & Watts, G. F. Advances, gaps and opportunities in the detection of familial hypercholesterolemia: overview of current and future screening and detection methods. Curr. Opin. Lipidol. 31, 347–355 (2020).
pubmed: 33027222
doi: 10.1097/MOL.0000000000000714
Qureshi, N. et al. Strategies for screening for familial hypercholesterolaemia in primary care and other community settings. Cochrane Database Syst. Rev. 10, CD012985 (2021).
pubmed: 34617591
Jahn, B. et al. Familial hypercholesterolemia: a systematic review of modeling studies on screening interventions. Atherosclerosis 355, 15–29 (2022).
pubmed: 35870306
doi: 10.1016/j.atherosclerosis.2022.06.1011
Carvalho, C. et al. Application of a risk stratification tool for familial hypercholesterolaemia in primary care: an observational cross-sectional study in an unselected urban population. Heart 107, 1220–1225 (2021).
pubmed: 34016698
doi: 10.1136/heartjnl-2020-318714
Wald, D. S. et al. Child–parent familial hypercholesterolemia screening in primary care. N. Engl. J. Med. 375, 1628–1637 (2016).
pubmed: 27783906
doi: 10.1056/NEJMoa1602777
McKay, A. J. et al. Universal screening at age 1–2 years as an adjunct to cascade testing for familial hypercholesterolaemia in the UK: a cost–utility analysis. Atherosclerosis 275, 434–443 (2018).
pubmed: 29937236
doi: 10.1016/j.atherosclerosis.2018.05.047
Klančar, G. et al. Universal screening for familial hypercholesterolemia in children. J. Am. Coll. Cardiol. 66, 1250–1257 (2015).
pubmed: 26361156
doi: 10.1016/j.jacc.2015.07.017
Matsunaga, K. et al. Universal screening for familial hypercholesterolemia in children in Kagawa, Japan. J. Atheroscler. Thromb. 29, 839–849 (2022).
pubmed: 34176852
doi: 10.5551/jat.62780
Morris, J. K., Wald, D. S. & Wald, N. J. The evaluation of cascade testing for familial hypercholesterolemia. Am. J. Med. Genet. A 158, 78–84 (2012).
doi: 10.1002/ajmg.a.34368
Wald, D. S. & Bestwick, J. P. Reaching detection targets in familial hypercholesterolaemia: comparison of identification strategies. Atherosclerosis 293, 57–61 (2020).
pubmed: 31837509
doi: 10.1016/j.atherosclerosis.2019.11.028
Murray, M. F. et al. DNA-based screening and population health: a points to consider statement for programs and sponsoring organizations from the American College of Medical Genetics and Genomics (ACMG). Genet. Med. 23, 989–995 (2021).
pubmed: 33727704
doi: 10.1038/s41436-020-01082-w
Grzymski, J. et al. Population genetic screening efficiently identifies carriers of autosomal dominant diseases. Nat. Med. 26, 1235–1239 (2020).
pubmed: 32719484
doi: 10.1038/s41591-020-0982-5
Buchanan, A. H. et al. Clinical outcomes of a genomic screening program for actionable genetic conditions. Genet. Med. 22, 1874–1882 (2020).
pubmed: 32601386
pmcid: 7605431
doi: 10.1038/s41436-020-0876-4
Khoury, M. J. & Dotson, W. D. From genes to public health: are we ready for DNA-based population screening? Genet. Med. 23, 996–998 (2021).
pubmed: 33790422
pmcid: 9215315
doi: 10.1038/s41436-021-01141-w
Held, P. K. et al. Analytical validation of familial hypercholesterolemia biomarkers in dried blood spots. Int. J. Neonatal Screen. 8, 14 (2022).
pubmed: 35225936
pmcid: 8883967
doi: 10.3390/ijns8010014
Downie, L., Halliday, J., Lewis, S. & Amor, D. J. Principles of genomic newborn screening programs: a systematic review. JAMA Netw. Open 4, e2114336 (2021).
pubmed: 34283230
pmcid: 8293022
doi: 10.1001/jamanetworkopen.2021.14336
Jones, L. K. et al. Evaluation of a multidisciplinary lipid clinic to improve the care of individuals with severe lipid conditions: a RE-AIM framework analysis. Implement. Sci. Commun. 2, 32 (2021).
pubmed: 33741054
pmcid: 7977494
doi: 10.1186/s43058-021-00135-8
Jones, L. K. et al. Barriers, facilitators, and solutions to familial hypercholesterolemia treatment. PLoS ONE 15, e0244193 (2020).
pubmed: 33362269
pmcid: 7757879
doi: 10.1371/journal.pone.0244193
Gidding, S. S. Familial hypercholesterolemia: the Atlantic Divide. J. Pediatr. https://doi.org/10.1016/j.jpeds.2022.09.021 (2022).
doi: 10.1016/j.jpeds.2022.09.021
pubmed: 36126732
Public Health England. Familial hypercholesterolaemia implementing a systems approach to detection and management. Public Health England https://assets.publishing.service.gov.uk/government/uploads/system/uploads/attachment_data/file/731873/familial_hypercholesterolaemia_implementation_guide.pdf (2018).
Peters, D. H., Tran, N. T. & Adam, T. Implementation research in health: a practical guide. WHO https://www.who.int/iris/bitstream/10665/91758/1/9789241506212_eng.pdf (2013).
Sturm, A. C. et al. Clinical genetic testing for familial hypercholesterolemia: JACC Scientific Expert Panel. J. Am. Coll. Cardiol. 72, 662–680 (2018).
pubmed: 30071997
doi: 10.1016/j.jacc.2018.05.044
Ibrahim, S., Defesche, J. & Kastelein, J. J. P. Beyond the usual suspects: expanding on mutations and detection for familial hypercholesterolemia. Expert. Rev. Mol. Diagn. 21, 887–895 (2021).
pubmed: 34263698
doi: 10.1080/14737159.2021.1953985
Sniderman, A. D., Glavinovic, T. & Thanassoulis, G. Key questions about familial hypercholesterolemia: JACC Review Topic of the Week. J. Am. Coll. Cardiol. 79, 1023–1031 (2022).
pubmed: 35272797
doi: 10.1016/j.jacc.2022.01.010
Sturm, A. C. et al. Limited-variant screening vs comprehensive genetic testing for familial hypercholesterolemia diagnosis. JAMA Cardiol. 6, 902–909 (2021).
pubmed: 34037665
pmcid: 8156154
doi: 10.1001/jamacardio.2021.1301
Gandhi, G. D. et al. Assessing the genetic burden of familial hypercholesterolemia in a large middle eastern biobank. J. Transl. Med. 20, 502 (2022).
pubmed: 36329474
pmcid: 9635206
doi: 10.1186/s12967-022-03697-w
Haralambos, K. et al. Clinical experience of scoring criteria for familial hypercholesterolaemia (FH) genetic testing in Wales. Atherosclerosis 240, 190–196 (2015).
pubmed: 25797312
doi: 10.1016/j.atherosclerosis.2015.03.003
Brunham, L. R. et al. Canadian cardiovascular society position statement on familial hypercholesterolemia: update 2018. Can. J. Cardiol. 34, 1553–1563 (2018).
pubmed: 30527143
doi: 10.1016/j.cjca.2018.09.005
Harada-Shiba, M. et al. Guidelines for the diagnosis and treatment of adult familial hypercholesterolemia 2022. J. Atheroscler. Thromb. https://doi.org/10.5551/jat.CR005 (2023).
doi: 10.5551/jat.CR005
pubmed: 37635059
pmcid: 10703578
Pina, A. et al. Virtual genetic diagnosis for familial hypercholesterolemia powered by machine learning. Eur. J. Prev. Cardiol. 27, 1639–1646 (2020).
pubmed: 32019371
doi: 10.1177/2047487319898951
Correia, M., Kagenaar, E., van Schalkwijk, D. B., Bourbon, M. & Gama-Carvalho, M. Machine learning modelling of blood lipid biomarkers in familial hypercholesterolaemia versus polygenic/environmental dyslipidaemia. Sci. Rep. 11, 801 (2021).
doi: 10.1038/s41598-021-83392-w
Hesse, R., Raal, F. J., Endo, C., Blom, D. & George, J. A. Familial hypercholesterolemia identification by machine learning using lipid profile data performs as well as clinical diagnostic criteria. Circ. Genom. Precis. Med. 15, e003324 (2022).
pubmed: 36154661
doi: 10.1161/CIRCGEN.121.003324
Khoury, M. et al. The detection, evaluation, and management of dyslipidemia in children and adolescents: a Canadian Cardiovascular Society/Canadian Pediatric Cardiology Association Clinical Practice Update. Can. J. Cardiol. 38, 1168–1179 (2022).
pubmed: 35961755
doi: 10.1016/j.cjca.2022.05.002
Starr, B. 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. 46, 791–803 (2008).
pubmed: 18601600
doi: 10.1515/CCLM.2008.135
Nohara, A. et al. Homozygous familial hypercholesterolemia. J. Atheroscler. Thromb. 28, 665–678 (2021).
pubmed: 33867421
pmcid: 8265428
doi: 10.5551/jat.RV17050
France, M. et al. HEART UK statement on the management of homozygous familial hypercholesterolaemia in the United Kingdom. Atherosclerosis 255, 128–139 (2016).
pubmed: 27839699
doi: 10.1016/j.atherosclerosis.2016.10.017
Sjouke, B. et al. Homozygous autosomal dominant hypercholesterolaemia in the Netherlands: prevalence, genotype–phenotype relationship, and clinical outcome. Eur. Heart J. 36, 560–565 (2015).
pubmed: 24585268
doi: 10.1093/eurheartj/ehu058
Bertolini, S. et al. Homozygous familial hypercholesterolemia in Italy: clinical and molecular features. Atherosclerosis 312, 72–78 (2020).
pubmed: 32977124
doi: 10.1016/j.atherosclerosis.2020.08.027
Santos, R. D. et al. Defining severe familial hypercholesterolaemia and the implications for clinical management: a consensus statement from the International Atherosclerosis Society Severe Familial Hypercholesterolemia Panel. Lancet Diabetes Endocrinol. 4, 850–861 (2016).
pubmed: 27246162
doi: 10.1016/S2213-8587(16)30041-9
Funabashi, S. et al. Substantially elevated atherosclerotic risks in Japanese severe familial hypercholesterolemia defined by the International Atherosclerosis Society. JACC Asia 1, 245–255 (2021).
pubmed: 36338164
pmcid: 9627852
doi: 10.1016/j.jacasi.2021.07.004
Langsted, A., Kamstrup, P. R., Benn, M., Tybjærg-Hansen, A. & Nordestgaard, B. G. High lipoprotein(a) as a possible cause of clinical familial hypercholesterolaemia: a prospective cohort study. Lancet Diabetes Endocrinol. 4, 577–587 (2016).
pubmed: 27185354
doi: 10.1016/S2213-8587(16)30042-0
Chan, D. C. et al. Effect of lipoprotein(a) on the diagnosis of familial hypercholesterolemia: does it make a difference in the clinic? Clin. Chem. 65, 1258–1266 (2019).
pubmed: 31307996
doi: 10.1373/clinchem.2019.306738
Tromp, T. R. et al. Use of lipoprotein(a) to improve diagnosis and management in clinical familial hypercholesterolemia. Atherosclerosis 365, 27–33 (2023).
pubmed: 36473758
doi: 10.1016/j.atherosclerosis.2022.11.020
Yeang, C., Witztum, J. L. & Tsimikas, S. Novel method for quantification of lipoprotein(a)-cholesterol: implications for improving accuracy of LDL-C measurements. J. Lipid Res. 62, 100053 (2021).
pubmed: 33636163
pmcid: 8042377
doi: 10.1016/j.jlr.2021.100053
Kronenberg, F. et al. Lipoprotein(a) in atherosclerotic cardiovascular disease and aortic stenosis: a European Atherosclerosis Society consensus statement. Eur. Heart J. 43, 3925–3946 (2022).
pubmed: 36036785
pmcid: 9639807
doi: 10.1093/eurheartj/ehac361
Yeang, C. et al. Effect of pelacarsen on lipoprotein(a) cholesterol and corrected low-density lipoprotein cholesterol. J. Am. Coll. Cardiol. 79, 1035–1046 (2022).
pubmed: 35300814
doi: 10.1016/j.jacc.2021.12.032
Brown, E. E. et al. Genetic testing in dyslipidemia: a scientific statement from the National Lipid Association. J. Clin. Lipidol. 14, 398–413 (2020).
pubmed: 32507592
doi: 10.1016/j.jacl.2020.04.011
Khera, A. V. et al. Diagnostic yield and clinical utility of sequencing familial hypercholesterolemia genes in patients with severe hypercholesterolemia. J. Am. Coll. Cardiol. 67, 2578–2589 (2016).
pubmed: 27050191
pmcid: 5405769
doi: 10.1016/j.jacc.2016.03.520
Paquette, M. et al. Effect of the LDL receptor mutation type on incident major adverse cardiovascular events in familial hypercholesterolaemia. Eur. J. Prev. Cardiol. 29, 2125–2131 (2022).
pubmed: 36047048
doi: 10.1093/eurjpc/zwac188
Landstrom, A. P. et al. Genetic testing for heritable cardiovascular diseases in pediatric patients: a scientific statement from the American Heart Association. Circ. Genom. Precis. Med. 14, e000086 (2021).
pubmed: 34412507
pmcid: 8546375
doi: 10.1161/HCG.0000000000000086
Musunuru, K. et al. Genetic testing for inherited cardiovascular diseases: a scientific statement from the American Heart Association. Circ. Genom. Precis. Med. 13, e000067 (2020).
pubmed: 32698598
doi: 10.1161/HCG.0000000000000067
Berberich, A. J. & Hegele, R. A. The advantages and pitfalls of genetic analysis in the diagnosis and management of lipid disorders. Best. Pract. Res. Clin. Endocrinol. Metab. 37, 101719 (2023).
pubmed: 36641373
doi: 10.1016/j.beem.2022.101719
Brown, E. E. The genetic counselor’s role in management of patients with dyslipidemia. Curr. Opin. Lipidol. 32, 83–88 (2021).
pubmed: 33492006
doi: 10.1097/MOL.0000000000000732
Marchand, M., Chen, V., Trinder, M., Cermakova, L. & Brunham, L. Patient perspectives regarding genetic testing for familial hypercholesterolemia. CJC Open 3, 557–564 (2020).
doi: 10.1016/j.cjco.2020.12.006
Berberich, A. J. & Hegele, R. A. The complex molecular genetics of familial hypercholesterolaemia. Nat. Rev. Cardiol. 16, 9–20 (2019).
pubmed: 29973710
doi: 10.1038/s41569-018-0052-6
Khera, A. V. & Hegele, R. A. What is familial hypercholesterolemia, and why does it matter? Circulation 141, 1760–1763 (2020).
pubmed: 32479201
pmcid: 7299543
doi: 10.1161/CIRCULATIONAHA.120.046961
Cao, Y.-X. et al. Improvement of definite diagnosis of familial hypercholesterolemia using an expanding genetic analysis. JACC Asia 1, 82–89 (2021).
pubmed: 36338372
pmcid: 9627923
doi: 10.1016/j.jacasi.2021.04.001
Leren, T. P. & Bogsrud, M. P. The importance of cascade genetic screening for diagnosing autosomal dominant hypercholesterolemia: results from twenty years of a national screening program in Norway. J. Clin. Lipidol. 15, 674–681 (2021).
pubmed: 34479846
doi: 10.1016/j.jacl.2021.08.007
Loh, W. J., Chan, D. C., Mata, P. & Watts, G. F. Familial hypercholesterolemia and elevated lipoprotein(a): cascade testing and other implications for contextual models of care. Front. Genet. 13, 905941 (2022).
pubmed: 35571022
pmcid: 9091303
doi: 10.3389/fgene.2022.905941
Jones, L. K. et al. Acceptability, appropriateness, and feasibility of automated screening approaches and family communication methods for identification of familial hypercholesterolemia: stakeholder engagement results from the IMPACT-FH study. J. Pers. Med. 11, 587 (2021).
pubmed: 34205662
pmcid: 8234213
doi: 10.3390/jpm11060587
Campbell-Salome, G. et al. Motivating cascade testing for familial hypercholesterolemia: applying the extended parallel process model for clinician communication. Transl. Behav. Med. 12, 800–809 (2022).
pubmed: 35429393
pmcid: 9291357
doi: 10.1093/tbm/ibac018
Leonardi-Bee, J. et al. Effectiveness of cascade testing strategies in relatives for familial hypercholesterolemia: a systematic review and meta-analysis. Atherosclerosis 338, 7–14 (2021).
pubmed: 34753031
doi: 10.1016/j.atherosclerosis.2021.09.014
Reijman, M. D., Kusters, D. M. & Wiegman, A. Advances in familial hypercholesterolaemia in children. Lancet Child. Adolesc. Health 5, 652–661 (2021).
pubmed: 34119028
doi: 10.1016/S2352-4642(21)00095-X
Pérez de Isla, L. et al. Predicting cardiovascular events in familial hypercholesterolemia: the SAFEHEART registry. Circulation 135, 2133–2144 (2017).
pubmed: 28275165
doi: 10.1161/CIRCULATIONAHA.116.024541
Bianconi, V., Banach, M. & Pirro, M. Why patients with familial hypercholesterolemia are at high cardiovascular risk? Beyond LDL-C levels. Trends Cardiovasc. Med. 31, 205–215 (2021).
pubmed: 32205033
doi: 10.1016/j.tcm.2020.03.004
Gallo, A., Mszar, R. & Miname, M. H. Updates on the use of subclinical atherosclerosis to predict risk of cardiovascular events in heterozygous familial hypercholesterolemia. Curr. Atheroscler. Rep. 24, 407–418 (2022).
pubmed: 35386094
doi: 10.1007/s11883-022-01017-7
Alonso, R. et al. Lipoprotein(a) levels in familial hypercholesterolaemia: an important predictor for cardiovascular disease independent of the type of LDL-receptor mutation. J. Am. Coll. Cardiol. 63, 1982–1989 (2014).
pubmed: 24632281
doi: 10.1016/j.jacc.2014.01.063
Ellis, K. L. et al. Value of measuring lipoprotein(a) during cascade testing for familial hypercholesterolemia. J. Am. Coll. Cardiol. 73, 1029–1039 (2019).
pubmed: 30846097
doi: 10.1016/j.jacc.2018.12.037
Pérez de Isla, L. et al. A resilient type of familial hypercholesterolaemia: case–control follow-up of genetically characterized older patients in the SAFEHEART cohort. Eur. J. Prev. Cardiol. 29, 795–801 (2021).
doi: 10.1093/eurjpc/zwab185
Hedegaard, B. S. et al. Equivalent impact of elevated lipoprotein(a) and familial hypercholesterolemia in patients with atherosclerotic cardiovascular disease. J. Am. Coll. Cardiol. 80, 1998–2010 (2022).
pubmed: 36396201
doi: 10.1016/j.jacc.2022.09.021
Nazli, S. A. et al. Familial hypercholesterolaemia and coronary risk factors among patients with angiogram-proven premature coronary artery disease in an Asian cohort. PLoS ONE 17, e0273896 (2022).
pubmed: 36054188
pmcid: 9439256
doi: 10.1371/journal.pone.0273896
Paquette, M. et al. Familial hypercholesterolemia-risk-score: a new score predicting cardiovascular events and cardiovascular mortality in familial hypercholesterolemia. Arterioscler. Thromb. Vasc. Biol. 41, 2632–2640 (2021).
pubmed: 34433300
doi: 10.1161/ATVBAHA.121.316106
McKay, A. J., Gunn, L. H. & Ray, K. K. Assessing the external validity of the SAFEHEART risk prediction model in patients with familial hypercholesterolaemia in an English routine care cohort. Atherosclerosis 358, 68–74 (2022).
pubmed: 35953355
doi: 10.1016/j.atherosclerosis.2022.07.011
Agarwala, A. et al. Racial disparities in modifiable risk factors and statin usage in Black patients with familial hypercholesterolemia. J. Am. Heart Assoc. 10, e020890 (2021).
pubmed: 34431361
pmcid: 8649284
doi: 10.1161/JAHA.121.020890
Pérez de Isla, L. et al. Lipoprotein(a), LDL-cholesterol, and hypertension: predictors of the need for aortic valve replacement in familial hypercholesterolaemia. Eur. Heart J. 42, 2201–2211 (2021).
pubmed: 33437997
doi: 10.1093/eurheartj/ehaa1066
Funabashi, S. et al. Characterization of polyvascular disease in heterozygous familial hypercholesterolemia: its association with circulating lipoprotein(a) levels. J. Am. Heart Assoc. 11, e025232 (2022).
pubmed: 35929461
pmcid: 9496307
doi: 10.1161/JAHA.121.025232
Myers, K. D. et al. COVID-19 associated risks of myocardial infarction in persons with familial hypercholesterolemia with or without ASCVD. Am. J. Prev. Cardiol. 7, 100197 (2021).
pubmed: 34611637
pmcid: 8387291
doi: 10.1016/j.ajpc.2021.100197
Coutinho, E. R. et al. Familial hypercholesterolemia and cardiovascular disease in older individuals. Atherosclerosis 318, 32–37 (2021).
pubmed: 33450476
doi: 10.1016/j.atherosclerosis.2020.12.012
Iyen, B. et al. Sex differences in cardiovascular morbidity associated with familial hypercholesterolaemia: a retrospective cohort study of the UK Simon Broome register linked to national hospital records. Atherosclerosis 315, 131–137 (2020).
pubmed: 33187671
pmcid: 7754706
doi: 10.1016/j.atherosclerosis.2020.10.895
Amrock, S. M. et al. Health disparities among adult patients with a phenotypic diagnosis of familial hypercholesterolemia in the CASCADE-FH™ patient registry. Atherosclerosis 267, 19–26 (2017).
pubmed: 29080546
doi: 10.1016/j.atherosclerosis.2017.10.006
Zamora, A. et al. Women with familial hypercholesterolemia phenotype are undertreated and poorly controlled compared to men. Sci. Rep. 13, 1492 (2023).
pubmed: 36707646
pmcid: 9883524
doi: 10.1038/s41598-023-27963-z
Klevmoen, M. et al. Loss of statin treatment years during pregnancy and breastfeeding periods in women with familial hypercholesterolemia. Atherosclerosis 335, 8–15 (2021).
pubmed: 34520888
doi: 10.1016/j.atherosclerosis.2021.09.003
Cho, L. et al. Summary of updated recommendations for primary prevention of cardiovascular disease in women: JACC state-of-the-art review. J. Am. Coll. Cardiol. 75, 2602–2618 (2020).
pubmed: 32439010
pmcid: 8328156
doi: 10.1016/j.jacc.2020.03.060
Okoth, K. et al. Association between the reproductive health of young women and cardiovascular disease in later life: umbrella review. Br. Med. J. 371, m3502 (2020).
doi: 10.1136/bmj.m3502
Bjelakovic, B. et al. Risk assessment and clinical management of children and adolescents with heterozygous familial hypercholesterolaemia. A position paper of the associations of preventive pediatrics of Serbia, mighty medic and international lipid expert panel. J. Clin. Med. 10, 4930 (2021).
pubmed: 34768450
pmcid: 8585021
doi: 10.3390/jcm10214930
Ramaswami, U. & Humphries, S. E. Management of familial hypercholesterolaemia in childhood. Curr. Opin. Pediatr. 32, 633–640 (2020).
pubmed: 32833799
doi: 10.1097/MOP.0000000000000943
Trinder, M. et al. Polygenic contribution to low-density lipoprotein cholesterol levels and cardiovascular risk in monogenic familial hypercholesterolemia. Circ. Genom. Precis. Med. 13, 515–523 (2020).
pubmed: 33079599
pmcid: 7889287
doi: 10.1161/CIRCGEN.120.002919
Fahed, A. C. et al. Polygenic background modifies penetrance of monogenic variants for tier 1 genomic conditions. Nat. Commun. 11, 3635 (2020).
pubmed: 32820175
pmcid: 7441381
doi: 10.1038/s41467-020-17374-3
Aragam, K. G. et al. Limitations of contemporary guidelines for managing patients at high genetic risk of coronary artery disease. J. Am. Coll. Cardiol. 75, 2769–2780 (2020).
pubmed: 32498804
pmcid: 7346975
doi: 10.1016/j.jacc.2020.04.027
Bolli, A., Di Domenico, P., Pastorino, R., Busby, G. B. & Bottà, G. Risk of coronary artery disease conferred by low-density lipoprotein cholesterol depends on polygenic background. Circulation 143, 1452–1454 (2021).
pubmed: 33677976
pmcid: 8021232
doi: 10.1161/CIRCULATIONAHA.120.051843
Christoffersen, M. & Tybjærg-Hansen, A. Polygenic risk scores: how much do they add? Curr. Opin. Lipidol. 32, 157–162 (2021).
pubmed: 33900274
doi: 10.1097/MOL.0000000000000759
Pérez de Isla, L. et al. Coronary heart disease, peripheral arterial disease, and stroke in familial hypercholesterolaemia. Arterioscler. Thromb. Vasc. Biol. 36, 2004–2010 (2016).
pubmed: 27444203
doi: 10.1161/ATVBAHA.116.307514
Kitahara, H. et al. Extent of lipid core plaque in patients with Achilles tendon xanthoma undergoing percutaneous coronary intervention for coronary artery disease. J. Cardiol. 79, 559–563 (2022).
pubmed: 34895790
doi: 10.1016/j.jjcc.2021.11.013
Mangili, L. C. et al. Achilles tendon xanthomas are associated with the presence and burden of subclinical coronary atherosclerosis in heterozygous familial hypercholesterolemia: a pilot study. Atherosclerosis 263, 393–397 (2017).
pubmed: 28499609
doi: 10.1016/j.atherosclerosis.2017.04.025
Tada, H. et al. Impact of clinical signs and genetic diagnosis of familial hypercholesterolaemia on the prevalence of coronary artery disease in patients with severe hypercholesterolaemia. Eur. Heart J. 38, 1573–1579 (2017).
pubmed: 28159968
doi: 10.1093/eurheartj/ehx004
Michikura, M. et al. Association between Achilles tendon softness and atherosclerotic cardiovascular disease in patients with familial hypercholesterolemia. J. Atheroscler. Thromb. 29, 1603–1612 (2022).
pubmed: 35013021
pmcid: 9623074
doi: 10.5551/jat.63151
Miname, M. H. et al. Vascular age derived from coronary artery calcium score on the risk stratification of individuals with heterozygous familial hypercholesterolaemia. Eur. Heart J. Cardiovasc. Imaging 21, 251–257 (2020).
pubmed: 31702778
doi: 10.1093/ehjci/jez280
Miname, M. H. et al. Coronary artery calcium and cardiovascular events in patients with familial hypercholesterolemia receiving standard lipid-lowering therapy. JACC Cardiovasc. Imaging 12, 1797–1804 (2019).
pubmed: 30448145
doi: 10.1016/j.jcmg.2018.09.019
Gallo, A. et al. The added value of coronary calcium score in predicting cardiovascular events in familial hypercholesterolemia. JACC Cardiovasc. Imaging 14, 2414–2424 (2021).
pubmed: 34274263
doi: 10.1016/j.jcmg.2021.06.011
Miname, M. H. et al. Evaluation of subclinical atherosclerosis by computed tomography coronary angiography and its association with risk factors in familial hypercholesterolemia. Atherosclerosis 213, 486–491 (2010).
pubmed: 20980000
doi: 10.1016/j.atherosclerosis.2010.10.001
Pérez de Isla, L. et al. Coronary computed tomographic angiography findings and their therapeutic implications in asymptomatic patients with familial hypercholesterolemia. Lessons from the SAFEHEART study. J. Clin. Lipidol. 12, 948–957 (2018).
pubmed: 29753733
doi: 10.1016/j.jacl.2018.04.003
Pérez de Isla, L. et al. Coronary plaque burden, plaque characterization and their prognostic implications in familial hypercholesterolemia: a computed tomographic angiography study. Atherosclerosis 317, 52–58 (2021).
pubmed: 33261814
doi: 10.1016/j.atherosclerosis.2020.11.012
Fuchs, A. et al. Subclinical coronary atherosclerosis and risk for myocardial infarction in a Danish cohort: a prospective observational cohort study. Ann. Intern. Med. 176, 433–442 (2023).
pubmed: 36972540
doi: 10.7326/M22-3027
Javaid, A. et al. Distribution of coronary artery calcium by age, sex, and race among patients 30–45 years old. J. Am. Coll. Cardiol. 79, 1873–1886 (2022).
pubmed: 35550683
pmcid: 9179003
doi: 10.1016/j.jacc.2022.02.051
Kusters, D. M., Wiegman, A., Kastelein, J. J. & Hutten, B. A. Carotid intima–media thickness in children with familial hypercholesterolemia. Circ. Res. 114, 307–310 (2014).
pubmed: 24192652
doi: 10.1161/CIRCRESAHA.114.301430
Stefanutti, C. et al. Toward an international consensus — integrating lipoprotein apheresis and new lipid-lowering drugs. J. Clin. Lipidol. 11, 858–871.e3 (2017).
pubmed: 28572002
doi: 10.1016/j.jacl.2017.04.114
Bélanger, A. M., Akioyamen, L. E., Ruel, I., Hales, L. & Genest, J. Aortic stenosis in homozygous familial hypercholesterolaemia: a paradigm shift over a century. Eur. Heart J. 43, 3227–3239 (2022).
pubmed: 35776569
doi: 10.1093/eurheartj/ehac339
Zhang, R. et al. Supravalvular aortic stenosis and the risk of premature death among patients with homozygous familial hypercholesterolemia. Am. J. Cardiol. 145, 58–63 (2021).
pubmed: 33454344
doi: 10.1016/j.amjcard.2020.12.080
Zhang, Y. et al. Association between cumulative low-density lipoprotein cholesterol exposure during young adulthood and middle age and risk of cardiovascular events. JAMA Cardiol. 6, 1406–1413 (2021).
pubmed: 34550307
pmcid: 8459309
doi: 10.1001/jamacardio.2021.3508
Masson, W. et al. Reduction of cardiovascular events with the use of lipid-lowering medication in patients with familial hypercholesterolemia or severe primary hypercholesterolemia: a systematic review. J. Clin. Lipidol. 16, 562–573 (2022).
pubmed: 35918256
doi: 10.1016/j.jacl.2022.07.004
Iyen, B., Akyea, R. K., Weng, S., Kai, J. & Qureshi, N. Statin treatment and LDL-cholesterol treatment goal attainment among individuals with familial hypercholesterolaemia in primary care. Open Heart 8, e001817 (2021).
pubmed: 34702779
pmcid: 8549660
doi: 10.1136/openhrt-2021-001817
Perez de Isla, L. et al. Attainment of LDL-cholesterol treatment goals in patients with familial hypercholesterolemia: 5-Year SAFEHEART registry follow-up. J. Am. Coll. Cardiol. 67, 1278–1285 (2016).
pubmed: 26988947
doi: 10.1016/j.jacc.2016.01.008
Schwarz, A. et al. Low-density lipoprotein cholesterol goal attainment in patients with clinical evidence of familial hypercholesterolemia and elevated Lp(a). Lipids Health Dis. 21, 114 (2022).
pubmed: 36324160
pmcid: 9628073
doi: 10.1186/s12944-022-01708-9
Chua, Y.-A. et al. Attainment of low-density lipoprotein cholesterol targets and prescribing pattern of lipid-lowering medications among patients with familial hypercholesterolemia attending specialist clinics. J. Atheroscler. Thromb. https://doi.org/10.5551/jat.63389 (2022).
doi: 10.5551/jat.63389
pubmed: 36567112
pmcid: 10564645
Raal, F. J., Hovingh, G. K. & Catapano, A. L. Familial hypercholesterolemia treatments: guidelines and new therapies. Atherosclerosis 277, 483–492 (2018).
pubmed: 30270089
doi: 10.1016/j.atherosclerosis.2018.06.859
Brandts, J. & Ray, K. K. Familial hypercholesterolemia. J. Am. Coll. Cardiol. 78, 1831–1843 (2021).
pubmed: 34711342
doi: 10.1016/j.jacc.2021.09.004
Rosenson, R. S. Existing and emerging therapies for the treatment of familial hypercholesterolemia. J. Lipid Res. 62, 100060 (2021).
pubmed: 33716107
pmcid: 8065289
doi: 10.1016/j.jlr.2021.100060
Ray, K. K. et al. Inclisiran and cardiovascular events: a patient-level analysis of phase III trials. Eur. Heart J. 44, 129–138 (2022).
pmcid: 9825807
doi: 10.1093/eurheartj/ehac594
Lloyd-Jones, D. M. et al. 2022 ACC Expert Consensus Decision Pathway on the role of nonstatin therapies for LDL-cholesterol lowering in the management of atherosclerotic cardiovascular disease risk: a report of the American College of Cardiology Solution Set Oversight Committee. J. Am. Coll. Cardiol. 80, 1366–1418 (2022).
pubmed: 36031461
doi: 10.1016/j.jacc.2022.07.006
Wong, N. D., Bang, M., Block, R. C., Peterson, A. L. & Karalis, D. G. Perceptions and barriers on the use of proprotein subtilisin/kexin type 9 inhibitors in heterozygous familial hypercholesterolemia (from a Survey of Primary Care Physicians and Cardiologists). Am. J. Cardiol. 152, 57–62 (2021).
pubmed: 34147211
doi: 10.1016/j.amjcard.2021.04.034
Langer, A. et al. Treatment inertia in patients with familial hypercholesterolemia. J. Am. Heart Assoc. 10, e020126 (2021).
pubmed: 34238023
pmcid: 8483494
doi: 10.1161/JAHA.120.020126
Ballantyne, C. M. et al. Long-term safety and efficacy of bempedoic acid in patients with atherosclerotic cardiovascular disease and/or heterozygous familial hypercholesterolemia (from the CLEAR Harmony Open-label Extension Study). Am. J. Cardiol. 41, 1–11 (2022).
doi: 10.1016/j.amjcard.2022.03.020
Newman, C. B. Safety of statins and nonstatins for treatment of dyslipidemia. Endocrinol. Metab. Clin. North Am. 51, 655–679 (2022).
pubmed: 35963634
doi: 10.1016/j.ecl.2022.01.004
Stroes, E. S. et al. Statin-associated muscle symptoms: impact on statin therapy — European Atherosclerosis Society Consensus Panel Statement on Assessment, Aetiology and Management. Eur. Heart J. 36, 1012–1022 (2015).
pubmed: 25694464
pmcid: 4416140
doi: 10.1093/eurheartj/ehv043
Rosenson, R. S. et al. Optimizing cholesterol treatment in patients with muscle complaints. J. Am. Coll. Cardiol. 70, 1290–1301 (2017).
pubmed: 28859793
doi: 10.1016/j.jacc.2017.07.752
Mach, F. et al. Adverse effects of statin therapy: perception vs. the evidence — focus on glucose homeostasis, cognitive, renal and hepatic function, haemorrhagic stroke and cataract. Eur. Heart J. 39, 2526–2539 (2018).
pubmed: 29718253
pmcid: 6047411
doi: 10.1093/eurheartj/ehy182
Newman, C. B. et al. Statin safety and associated adverse events: a scientific statement from the American Heart Association. Arterioscler. Thromb. Vasc. Biol. 39, e38–e81 (2019).
pubmed: 30580575
doi: 10.1161/ATV.0000000000000073
Nissen, S. E. et al. Bempedoic acid and cardiovascular outcomes in statin-intolerant patients. N. Engl. J. Med. 388, 1353–1364 (2023).
pubmed: 36876740
doi: 10.1056/NEJMoa2215024
Fahed, A. C. et al. Association of the interaction between familial hypercholesterolemia variants and adherence to a healthy lifestyle with risk of coronary artery disease. JAMA Netw. Open 5, e222687 (2022).
pubmed: 35294538
pmcid: 8928007
doi: 10.1001/jamanetworkopen.2022.2687
Stone, N. J. et al. Managing atherosclerotic cardiovascular risk in young adults: JACC state-of-the-art review. J. Am. Coll. Cardiol. 79, 819–836 (2022).
pubmed: 35210038
doi: 10.1016/j.jacc.2021.12.016
Bhatt, D. L. et al. Cardiovascular risk reduction with icosapent ethyl for hypertriglyceridemia. N. Engl. J. Med. 380, 11–22 (2019).
pubmed: 30415628
doi: 10.1056/NEJMoa1812792
Orringer, C. E., Jacobson, T. A. & Maki, K. C. National Lipid Association Scientific Statement on the use of icosapent ethyl in statin-treated patients with elevated triglycerides and high or very-high ASCVD risk. J. Clin. Lipidol. 13, 860–872 (2019).
pubmed: 31787586
doi: 10.1016/j.jacl.2019.10.014
Budoff, M. J. et al. Effect of icosapent ethyl on progression of coronary atherosclerosis in patients with elevated triglycerides on statin therapy: final results of the EVAPORATE trial. Eur. Heart J. 41, 3925–3932 (2020).
pubmed: 32860032
pmcid: 7654934
doi: 10.1093/eurheartj/ehaa652
Skulas-Ray, A. C. et al. Omega-3 fatty acids for the management of hypertriglyceridemia: a science advisory from the American Heart Association. Circulation 140, e673–e691 (2019).
pubmed: 31422671
doi: 10.1161/CIR.0000000000000709
Visseren, F. L. et al. 2021 ESC Guidelines on cardiovascular disease prevention in clinical practice: Developed by the Task Force for cardiovascular disease prevention in clinical practice with representatives of the European Society of Cardiology and 12 medical societies With the special contribution of the European Association of Preventive Cardiology (EAPC). Eur. Heart J. 42, 3227–3337 (2021).
pubmed: 34458905
doi: 10.1093/eurheartj/ehab484
Nidorf, S. M. et al. Colchicine in patients with chronic coronary disease. N. Engl. J. Med. 383, 1838–1847 (2020).
pubmed: 32865380
doi: 10.1056/NEJMoa2021372
Tardif, J.-C. et al. Efficacy and safety of low-dose colchicine after myocardial infarction. N. Engl. J. Med. 381, 2497–2505 (2019).
pubmed: 31733140
doi: 10.1056/NEJMoa1912388
Vuorio, A. et al. Statins for children with familial hypercholesterolemia. Cochrane Database Syst. Rev. 11, CD006401 (2019).
Anagnostis, P. et al. Efficacy and safety of statin use in children and adolescents with familial hypercholesterolaemia: a systematic review and meta-analysis of randomized-controlled trials. Endocrine 69, 249–261 (2020).
pubmed: 32333266
doi: 10.1007/s12020-020-02302-8
Mamann, N. et al. Intermediate-term efficacy and tolerance of statins in children. J. Pediatr. 210, 161–165 (2019).
pubmed: 31053349
doi: 10.1016/j.jpeds.2019.03.032
Benekos, T., Kosmeri, C., Vlahos, A. & Milionis, H. Nine-year overview of dyslipidemia management in children with heterozygous familial hypercholesterolemia: a university hospital outpatient lipid clinic project in Northwestern Greece. J. Pediatr. Endocrinol. Metab. 33, 533–538 (2020).
pubmed: 32084003
doi: 10.1515/jpem-2019-0250
Desai, N. K. et al. Hepatotoxicity of statins as determined by serum alanine aminotransferase in a pediatric cohort with dyslipidemia. J. Pediatr. Gastroenterol. Nutr. 68, 175 (2019).
pubmed: 30334928
pmcid: 6344263
doi: 10.1097/MPG.0000000000002174
Johnson, P. K. et al. Statin-associated myopathy in a pediatric preventive cardiology practice. J. Pediatr. 185, 94–98.e1 (2017).
pubmed: 28365026
pmcid: 6618290
doi: 10.1016/j.jpeds.2017.02.047
Joyce, N. R., Zachariah, J. P., Eaton, C. B., Trivedi, A. N. & Wellenius, G. A. Statin use and the risk of type 2 diabetes mellitus in children and adolescents. Acad. Pediatr. 17, 515–522 (2017).
pubmed: 28232259
pmcid: 5499509
doi: 10.1016/j.acap.2017.02.006
Kavey, R.-E. W. et al. Effectiveness and safety of statin therapy in children: a real-world clinical practice experience. CJC Open 2, 473–482 (2020).
pubmed: 33305206
pmcid: 7710927
doi: 10.1016/j.cjco.2020.06.002
Stein, E. A. et al. Colesevelam hydrochloride: efficacy and safety in pediatric subjects with heterozygous familial hypercholesterolemia. J. Pediatr. 156, 231–236.e1–3 (2010).
pubmed: 19879596
doi: 10.1016/j.jpeds.2009.08.037
Kusters, D. M. et al. Efficacy and safety of ezetimibe monotherapy in children with heterozygous familial or nonfamilial hypercholesterolemia. J. Pediatr. 166, 1377–1384.e1–3 (2015).
pubmed: 25841542
doi: 10.1016/j.jpeds.2015.02.043
Santos, R. D. et al. Evolocumab in pediatric heterozygous familial hypercholesterolemia. N. Engl. J. Med. 383, 1317–1327 (2020).
pubmed: 32865373
doi: 10.1056/NEJMoa2019910
Daniels, S. et al. PCSK9 inhibition with alirocumab in pediatric patients with heterozygous familial hypercholesterolemia: the ODYSSEY KIDS study. J. Clin. Lipidol. 14, 322–330.e5 (2020).
pubmed: 32331936
doi: 10.1016/j.jacl.2020.03.001
Santos, R. D. et al. Paediatric patients with heterozygous familial hypercholesterolaemia treated with evolocumab for 80 weeks (HAUSER-OLE): a single-arm, multicentre, open-label extension of HAUSER-RCT. Lancet Diabetes Endocrinol. 10, 732–740 (2022).
pubmed: 36075246
doi: 10.1016/S2213-8587(22)00221-2
Roy, G., Boucher, A., Couture, P. & Drouin-Chartier, J.-P. Impact of diet on plasma lipids in individuals with heterozygous familial hypercholesterolemia: a systematic review of randomized controlled nutritional studies. Nutrients 13, 235 (2021).
pubmed: 33561083
pmcid: 7829745
doi: 10.3390/nu13010235
Kris-Etherton, P. M. et al. Strategies for promotion of a healthy lifestyle in clinical settings: pillars of ideal cardiovascular health: a science advisory from the American Heart Association. Circulation 144, e495–e514 (2021).
pubmed: 34689589
Langslet, G. et al. Thirty percent of children and young adults with familial hypercholesterolemia treated with statins have adherence issues. Am. J. Prev. Cardiol. 6, 100180 (2021).
pubmed: 34327501
pmcid: 8315460
doi: 10.1016/j.ajpc.2021.100180
Hokanson, J. S. et al. Preventive medicine in pediatric cardiology practice. J. Pediatr. 253, 14–17.e3 (2022).
pubmed: 36027977
doi: 10.1016/j.jpeds.2022.08.034
Kinnear, F. J. et al. Enablers and barriers to treatment adherence in heterozygous familial hypercholesterolaemia: a qualitative evidence synthesis. BMJ Open 9, e030290 (2019).
pubmed: 31371299
pmcid: 6677970
doi: 10.1136/bmjopen-2019-030290
Svendsen, K. et al. Genetic testing is essential for initiating statin therapy in children with familial hypercholesterolemia: examples from Scandinavia. Atherosclerosis 316, 48–52 (2021).
pubmed: 33302044
doi: 10.1016/j.atherosclerosis.2020.11.027
Mackie, T. I., Tse, L. L., de Ferranti, S. D., Ryan, H. R. & Leslie, L. K. Treatment decision making for adolescents with familial hypercholesterolemia: role of family history and past experiences. J. Clin. Lipidol. 9, 583–593.e1–3 (2015).
pubmed: 26228677
pmcid: 6594829
doi: 10.1016/j.jacl.2015.04.008
Alothman, L. et al. Health-related quality of life in homozygous familial hypercholesterolemia: a systematic review and meta-analysis. J. Clin. Lipidol. 16, 52–65 (2022).
pubmed: 35027327
doi: 10.1016/j.jacl.2021.11.014
Tunçel, Ö. K. et al. Mental status and physical activity in patients with homozygous familial hypercholesterolemia: a subgroup analysis of a nationwide survey (A-HIT1 registry). J. Clin. Lipidol. 14, 361–370. e2 (2020).
doi: 10.1016/j.jacl.2020.04.006
Nordestgaard, B. et al. Familial hypercholesterolaemia is underdiagnosed and undertreated in the general population: guidance for clinicians to prevent coronary heart disease (Consensus Statement of the European Atherosclerosis Society). Eur. Heart J. 34, 3478–3490 (2013).
pubmed: 23956253
pmcid: 3844152
doi: 10.1093/eurheartj/eht273
Cuchel, M. et al. 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. 35, 2146–2157 (2014).
pubmed: 25053660
pmcid: 4139706
doi: 10.1093/eurheartj/ehu274
Stefanutti, C. et al. A cross-national investigation of cardiovascular survival in homozygous familial hypercholesterolemia: the Sino-Roman Study. J. Clin. Lipidol. 13, 608–617 (2019).
pubmed: 31255589
doi: 10.1016/j.jacl.2019.05.002
Thompson, G. R. et al. Survival in homozygous familial hypercholesterolaemia is determined by the on-treatment level of serum cholesterol. Eur. Heart J. 39, 1162–1168 (2018).
pubmed: 29106543
doi: 10.1093/eurheartj/ehx317
Kramer, A. I. et al. Major adverse cardiovascular events in homozygous familial hypercholesterolaemia: a systematic review and meta-analysis. Eur. J. Prev. Cardiol. 29, 817–828 (2021).
doi: 10.1093/eurjpc/zwab224
Nurmohamed, N. S., Navar, A. M. & Kastelein, J. J. P. New and emerging therapies for reduction of LDL-cholesterol and apolipoprotein B. J. Am. Coll. Cardiol. 77, 1564–1575 (2021).
pubmed: 33766264
doi: 10.1016/j.jacc.2020.11.079
Ray, K. K. et al. Combination lipid-lowering therapy as first-line strategy in very high-risk patients. Eur. Heart J. 43, 830–833 (2021).
doi: 10.1093/eurheartj/ehab718
Raal, F. J. et al. Inhibition of PCSK9 with evolocumab in homozygous familial hypercholesterolaemia (TESLA Part B): a randomised, double-blind, placebo-controlled trial. Lancet 385, 341–350 (2015).
pubmed: 25282520
doi: 10.1016/S0140-6736(14)61374-X
Bansal, S. et al. Evolocumab in patients with homozygous familial hypercholesterolemia in India. J. Clin. Lipidol. 15, 814–821 (2021).
pubmed: 34750081
doi: 10.1016/j.jacl.2021.10.003
Santos, R. D. et al. Long-term evolocumab in patients with familial hypercholesterolemia. J. Am. Coll. Cardiol. 75, 565–574 (2020).
pubmed: 32057369
doi: 10.1016/j.jacc.2019.12.020
Bruckert, E. et al. Efficacy and safety of alirocumab in children and adolescents with homozygous familial hypercholesterolemia: phase 3, multinational open-label study. Arterioscler. Thromb. Vasc. Biol. 42, 1447–1457 (2022).
pubmed: 36325897
pmcid: 9750107
doi: 10.1161/ATVBAHA.122.317793
Harada-Shiba, M. et al. Guidelines for the diagnosis and treatment of pediatric familial hypercholesterolemia 2022. J. Atheroscler. Thromb. https://doi.org/10.5551/jat.CR006 (2023).
doi: 10.5551/jat.CR006
pubmed: 37635059
pmcid: 10703578
Sunil, B., Foster, C., Wilson, D. P. & Ashraf, A. P. Novel therapeutic targets and agents for pediatric dyslipidemia. Ther. Adv. Endocrinol. Metab. 12, 20420188211058323 (2021).
pubmed: 34868544
pmcid: 8637781
doi: 10.1177/20420188211058323
Raal, F. J. et al. Evinacumab for homozygous familial hypercholesterolemia. N. Engl. J. Med. 383, 711–720 (2020).
pubmed: 32813947
doi: 10.1056/NEJMoa2004215
Blom, D. J. et al. Long-term efficacy and safety of the microsomal triglyceride transfer protein inhibitor lomitapide in patients with homozygous familial hypercholesterolemia. Circulation 136, 332–335 (2017).
pubmed: 28716835
doi: 10.1161/CIRCULATIONAHA.117.028208
Reeskamp, L. F. et al. Marked plaque regression in homozygous familial hypercholesterolemia. Atherosclerosis 327, 13–17 (2021).
pubmed: 34004483
doi: 10.1016/j.atherosclerosis.2021.04.014
Stefanutti, C. & Thompson, G. R. Lipoprotein apheresis in the management of familial hypercholesterolaemia: historical perspective and recent advances. Curr. Atheroscler. Rep. 17, 465 (2015).
pubmed: 25410046
doi: 10.1007/s11883-014-0465-6
Palcoux, J.-B. et al. Low-density lipoprotein apheresis in children with familial hypercholesterolemia: follow-up to 21 years. Ther. Apher. Dial. 12, 195–201 (2008).
pubmed: 18503695
doi: 10.1111/j.1744-9987.2008.00574.x
Hudgins, L. C., Kleinman, B., Scheuer, A., White, S. & Gordon, B. R. Long-term safety and efficacy of low-density lipoprotein apheresis in childhood for homozygous familial hypercholesterolemia. Am. J. Cardiol. 102, 1199–1204 (2008).
pubmed: 18940291
doi: 10.1016/j.amjcard.2008.06.049
Græsdal, A. et al. Apheresis in homozygous familial hypercholesterolemia: the results of a follow-up of all Norwegian patients with homozygous familial hypercholesterolemia. J. Clin. Lipidol. 6, 331–339 (2012).
pubmed: 22836070
doi: 10.1016/j.jacl.2012.03.004
Bajaj, A. & Cuchel, M. Advancements in the treatment of homozygous familial hypercholesterolemia. J. Atheroscler. Thromb. 29, 1125–1135 (2022).
pubmed: 35466160
pmcid: 9371762
doi: 10.5551/jat.RV17065
Luirink, I. K. et al. Efficacy and safety of lipoprotein apheresis in children with homozygous familial hypercholesterolemia: a systematic review. J. Clin. Lipidol. 13, 31–39 (2019).
pubmed: 30553758
doi: 10.1016/j.jacl.2018.10.011
Kawashiri, M.-a et al. Impact of evolocumab treatment on low-density lipoprotein cholesterol levels in heterozygous familial hypercholesterolemic patients withdrawing from regular apheresis. Atherosclerosis 265, 225–230 (2017).
pubmed: 28926730
doi: 10.1016/j.atherosclerosis.2017.09.011
Chadwick, A. C., Evitt, N. H., Lv, W. & Musunuru, K. Reduced blood lipid levels with in vivo CRISPR-Cas9 base editing of ANGPTL3. Circulation 137, 975–977 (2018).
pubmed: 29483174
pmcid: 5830171
doi: 10.1161/CIRCULATIONAHA.117.031335
Musunuru, K. et al. In vivo CRISPR base editing of PCSK9 durably lowers cholesterol in primates. Nature 593, 429–434 (2021).
pubmed: 34012082
doi: 10.1038/s41586-021-03534-y
Al Dubayee, M., Kayikcioglu, M., van Lennep, J. R., Hergli, N. & Mata, P. Is liver transplant curative in homozygous familial hypercholesterolemia? A review of nine global cases. Adv. Ther. 39, 3042–3057 (2022).
pubmed: 35471728
pmcid: 9122866
doi: 10.1007/s12325-022-02131-3
Kazimi, M. et al. Concurrent living donor liver transplantation and off-pump coronary artery bypass in a five-year-old child with homozygous familial hypercholesterolemia: a case report. Transplant. Proc. https://doi.org/10.1016/j.transproceed.2023.02.024 (2023).
doi: 10.1016/j.transproceed.2023.02.024
pubmed: 36967336
El-Rassi, I., Chehab, G., Saliba, Z., Alawe, A. & Jebara, V. Fatal cardiac atherosclerosis in a child 10 years after liver transplantation: a case report and a review. J. Clin. Lipidol. 5, 329–332 (2011).
pubmed: 21784380
doi: 10.1016/j.jacl.2011.05.002
Ishigaki, Y. et al. Liver transplantation for homozygous familial hypercholesterolemia. J. Atheroscler. Thromb. 26, 121–127 (2019).
pubmed: 30555131
pmcid: 6365147
doi: 10.5551/jat.RV17029
Martinez, M. et al. Effects of liver transplantation on lipids and cardiovascular disease in children with homozygous familial hypercholesterolemia. Am. J. Cardiol. 118, 504–510 (2016).
pubmed: 27365335
doi: 10.1016/j.amjcard.2016.05.042
Cephus, C. E., Qureshi, A. M., Tejtel, S. K. S., Alam, M. & Moodie, D. S. Coronary artery disease in a child with homozygous familial hypercholesterolemia: regression after liver transplantation. J. Clin. Lipidol. 13, 880–886 (2019).
pubmed: 31704104
doi: 10.1016/j.jacl.2019.09.007
Mlinaric, M. et al. Case report: liver transplantation in homozygous familial hypercholesterolemia (HoFH) — long-term follow-up of a patient and literature review. Front. Pediatr. 8, 567895 (2020).
pubmed: 33163465
pmcid: 7581712
doi: 10.3389/fped.2020.567895
Ibrahim, M., El-Hamamsy, I., Barbir, M. & Yacoub, M. H. Translational lessons from a case of combined heart and liver transplantation for familial hypercholesterolemia 20 years post-operatively. J. Cardiovasc. Transl. Res. 5, 351–358 (2012).
pubmed: 21882079
doi: 10.1007/s12265-011-9311-1
Squires, J. E. et al. Factors associated with improved patient and graft survival beyond 1 year in pediatric liver transplantation. Liver Transpl. 28, 1899–1910 (2022).
pubmed: 35555876
doi: 10.1002/lt.26502
Cohen, H. & Stefanutti, C. Current approach to the diagnosis and treatment of heterozygote and homozygous FH children and adolescents. Curr. Atheroscler. Rep. 23, 30 (2021).
pubmed: 33963467
pmcid: 8105241
doi: 10.1007/s11883-021-00926-3
Perez de Isla, L. et al. Alicrocumab and coronary atherosclerosis in asymptomatic patients with familial hypercholesterolaemia: the ARCHITECT study. Circulation https://doi.org/10.1161/CIRCULATIONAHA.122.062557 (2023).
doi: 10.1161/CIRCULATIONAHA.122.062557
pubmed: 37747952
pmcid: 10158600
Sepucha, K. R. & Scholl, I. Measuring shared decision making: a review of constructs, measures, and opportunities for cardiovascular care. Circ. Cardiovasc. Qual. Outcomes 7, 620–626 (2014).
pubmed: 24867916
doi: 10.1161/CIRCOUTCOMES.113.000350
Barrett, B., Ricco, J., Wallace, M., Kiefer, D. & Rakel, D. Communicating statin evidence to support shared decision-making. BMC Fam. Pract. 17, 41 (2016).
pubmed: 27048421
pmcid: 4822230
doi: 10.1186/s12875-016-0436-9
Spatz, E. S. & Spertus, J. A. Shared decision making: a path toward improved patient-centered outcomes. Circ. Cardiovasc. Qual. Outcomes 5, e75–e77 (2012).
pubmed: 23170005
doi: 10.1161/CIRCOUTCOMES.112.969717
Birtcher, K. K. et al. 2022 ACC expert consensus decision pathway for integrating atherosclerotic cardiovascular disease and multimorbidity treatment: a framework for pragmatic, patient-centered care. J. Am. Coll. Cardiol. 81, 292–317 (2023).
pubmed: 36307329
doi: 10.1016/j.jacc.2022.08.754
Graham, D. F. & Raal, F. J. Management of familial hypercholesterolemia in pregnancy. Curr. Opin. Lipidol. 32, 370–377 (2021).
pubmed: 34619689
doi: 10.1097/MOL.0000000000000790
Amundsen, Å. L. et al. Marked changes in plasma lipids and lipoproteins during pregnancy in women with familial hypercholesterolemia. Atherosclerosis 189, 451–457 (2006).
pubmed: 16466729
doi: 10.1016/j.atherosclerosis.2006.01.002
Nangrahary, M., Graham, D. F., Pang, J., Barnett, W. & Watts, G. F. Familial hypercholesterolaemia in pregnancy: Australian case series and review. Aust. N. Z. J. Obstet. Gynaecol. https://doi.org/10.1111/ajo.13657 (2023).
doi: 10.1111/ajo.13657
pubmed: 36883608
Johansen, A. K. et al. Young women with familial hypercholesterolemia have higher LDL-cholesterol burden than men: novel data using repeated measurements during 12-years follow-up. Atheroscler 51, 28–34 (2023).
doi: 10.1016/j.athplu.2023.01.001
Cacciatore, F. et al. Maternal hypercholesterolaemia during pregnancy affects severity of myocardial infarction in young adults. Eur. J. Prev. Cardiol. 29, 758–765 (2022).
pubmed: 34662903
doi: 10.1093/eurjpc/zwab152
Balla, S., Ekpo, E. P., Wilemon, K. A., Knowles, J. W. & Rodriguez, F. Women living with familial hypercholesterolemia: challenges and considerations surrounding their care. Curr. Atheroscler. Rep. 22, 60 (2020).
pubmed: 32816232
pmcid: 7508565
doi: 10.1007/s11883-020-00881-5
Thorogood, M., Seed, M. & De Mott, K., Guideline Development Group. Management of fertility in women with familial hypercholesterolaemia: summary of NICE guidance. Br. J. Obstet. Gynaecol. 116, 478–479 (2009).
doi: 10.1111/j.1471-0528.2008.02084.x
Regitz-Zagrosek, V. et al. 2018 ESC Guidelines for the management of cardiovascular diseases during pregnancy. Eur. Heart J. 39, 3165–3241 (2018).
pubmed: 30165544
doi: 10.1093/eurheartj/ehy340
Lawesson, S. S. et al. Association between history of adverse pregnancy outcomes and coronary artery disease assessed by coronary computed tomography angiography. J. Am. Med. Assoc. 329, 393–404 (2023).
doi: 10.1001/jama.2022.24093
Agarwala, A., Michos, E. D., Samad, Z., Ballantyne, C. M. & Virani, S. S. The use of sex-specific factors in the Assessment of Women’s Cardiovascular Risk. Circulation 141, 592–599 (2020).
pubmed: 32065772
pmcid: 7032610
doi: 10.1161/CIRCULATIONAHA.119.043429
Lewek, J. & Banach, M. Dyslipidemia management in pregnancy: why is it not covered in the guidelines? Curr. Atheroscler. Rep. 24, 547–556 (2022).
pubmed: 35499807
doi: 10.1007/s11883-022-01030-w
Pieper, P. G. Use of medication for cardiovascular disease during pregnancy. Nat. Rev. Cardiol. 12, 718 (2015).
pubmed: 26585398
doi: 10.1038/nrcardio.2015.172
Blaha, M., Lanska, M., Blaha, V., Boudys, L. & Zak, P. Pregnancy in homozygous familial hypercholesterolemia — importance of LDL-apheresis. Atheroscler. Suppl. 18, 134–139 (2015).
pubmed: 25936317
doi: 10.1016/j.atherosclerosissup.2015.02.024
Ogura, M. et al. Lipoprotein apheresis is essential for managing pregnancies in patients with homozygous familial hypercholesterolemia: seven case series and discussion. Atherosclerosis 254, 179–183 (2016).
pubmed: 27755983
doi: 10.1016/j.atherosclerosis.2016.10.018
Kusters, D. M. et al. Statin use during pregnancy: a systematic review and meta-analysis. Expert. Rev. Cardiovasc. Ther. 10, 363–378 (2012).
pubmed: 22390808
doi: 10.1586/erc.11.196
Zarek, J., Delano, K. E., Nickel, C., Laskin, C. A. & Koren, G. Are statins teratogenic in humans? Addressing the safety of statins in light of potential benefits during pregnancy. Exp. Rev. Obstet. Gynecol. 8, 513–524 (2013).
doi: 10.1586/17474108.2013.842684
Winterfeld, U. et al. Pregnancy outcome following maternal exposure to statins: a multicentre prospective study. Br. J. Obstet. Gynaecol. 120, 463–471 (2013).
doi: 10.1111/1471-0528.12066
Karalis, D. G., Hill, A. N., Clifton, S. & Wild, R. A. The risks of statin use in pregnancy: a systematic review. J. Clin. Lipidol. 10, 1081–1090 (2016).
pubmed: 27678424
doi: 10.1016/j.jacl.2016.07.002
Vahedian-Azimi, A. et al. A systematic review and meta-analysis on the effects of statins on pregnancy outcomes. Atherosclerosis 336, 1–11 (2021).
pubmed: 34601188
doi: 10.1016/j.atherosclerosis.2021.09.010
Botha, T. C., Pilcher, G. J., Wolmarans, K., Blom, D. J. & Raal, F. J. Statins and other lipid-lowering therapy and pregnancy outcomes in homozygous familial hypercholesterolaemia: a retrospective review of 39 pregnancies. Atherosclerosis 277, 502–507 (2018).
pubmed: 30270091
doi: 10.1016/j.atherosclerosis.2018.05.038
Thobani, A., Hassen, L., Mehta, L. S. & Agarwala, A. Management of hypercholesterolemia in pregnant women with atherosclerotic cardiovascular disease. Curr. Atheroscler. Rep. 23, 58 (2021).
pubmed: 34345940
doi: 10.1007/s11883-021-00957-w
Toleikyte, I., Retterstøl, K., Leren, T. P. & Iversen, P. O. Pregnancy outcomes in familial hypercholesterolemia — a registry-based study. Circulation 124, 1606–1614 (2011).
pubmed: 21911783
doi: 10.1161/CIRCULATIONAHA.110.990929
Chang, J.-C. et al. Perinatal outcomes after statin exposure during pregnancy. JAMA Netw. Open 4, e2141321 (2021).
pubmed: 34967881
pmcid: 8719244
doi: 10.1001/jamanetworkopen.2021.41321
Poornima, I. G., Pulipati, V. P., Brinton, E. A. & Wild, R. A. Update on statin use in pregnancy. Am. J. Med. 136, 12–14 (2022).
pubmed: 36150512
pmcid: 10575572
doi: 10.1016/j.amjmed.2022.08.029
Mauricio, R. & Khera, A. Statin use in pregnancy: is it time for a paradigm shift? Circulation 145, 496–498 (2022).
pubmed: 35157518
doi: 10.1161/CIRCULATIONAHA.121.058983
Lundberg, G. P. et al. Heart centers for women: historical perspective on formation and future strategies to reduce cardiovascular disease. Circulation 138, 1155–1165 (2018).
pubmed: 30354384
doi: 10.1161/CIRCULATIONAHA.118.035351
Geraghty, L. et al. Cardiovascular disease in women: from pathophysiology to novel and emerging risk factors. Heart Lung Circ. 30, 9–17 (2021).
pubmed: 32843293
doi: 10.1016/j.hlc.2020.05.108
Baum, S. J. et al. Effect of evolocumab on lipoprotein apheresis requirement and lipid levels: results of the randomized, controlled, open-label DE LAVAL study. J. Clin. Lipidol. 13, 901–909 (2019).
pubmed: 31759938
doi: 10.1016/j.jacl.2019.10.003
Cuchel, M. et al. Efficacy and safety of a microsomal triglyceride transfer protein inhibitor in patients with homozygous familial hypercholesterolaemia: a single-arm, open-label, phase 3 study. Lancet 381, 40–46 (2013).
pubmed: 23122768
doi: 10.1016/S0140-6736(12)61731-0
D’Erasmo, L. et al. Efficacy and safety of lomitapide in homozygous familial hypercholesterolaemia: the pan-European retrospective observational study. Eur. J. Prev. Cardiol. 29, 832–841 (2022).
pubmed: 34971394
doi: 10.1093/eurjpc/zwab229
Thompson, G. R. The scientific basis and future of lipoprotein apheresis. Ther. Apher. Dial. 26, 32–36 (2022).
pubmed: 34331508
doi: 10.1111/1744-9987.13716
Thompson, G. R. et al. Improved cardiovascular outcomes following temporal advances in lipid-lowering therapy in a genetically-characterised cohort of familial hypercholesterolaemia homozygotes. Atherosclerosis 243, 328–333 (2015).
pubmed: 26433113
doi: 10.1016/j.atherosclerosis.2015.09.029
Kayikcioglu, M. et al. 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. 13, 455–467 (2019).
pubmed: 30928440
doi: 10.1016/j.jacl.2019.02.001
Watts, G. F. et al. Familial hypercholesterolaemia: a model of care for Australasia. Atheroscler. Suppl. 12, 221–263 (2011).
pubmed: 21917530
doi: 10.1016/j.atherosclerosissup.2011.06.001
Padmanabhan, A. et al. Guidelines on the use of therapeutic apheresis in clinical practice — evidence‐based approach from the writing committee of the American Society for Apheresis: the eighth special issue. J. Clin. Apher. 34, 171–354 (2019).
pubmed: 31180581
doi: 10.1002/jca.21705
McIntosh, S. et al. Patient voice and health education for familial hypercholesterolaemia. Health Educ. J. 8, 123–133 (2022).
doi: 10.1177/00178969211055976
Bulsara, C. et al. Awareness of familial hypercholesterolaemia in Australian primary care: a qualitative descriptive study. Aust. J. Gen. Pract. 50, 634–640 (2021).
pubmed: 34462767
doi: 10.31128/AJGP-04-21-5952
Bean, L. J. et al. DNA-based screening and personal health: a points to consider statement for individuals and health-care providers from the American College of Medical Genetics and Genomics (ACMG). Genet. Med. 23, 979–988 (2021).
pubmed: 33790423
doi: 10.1038/s41436-020-01083-9
Jones, L. K., Sturm, A. C. & Gionfriddo, M. R. Translating guidelines into practice via implementation science: an update in lipidology. Curr. Opin. Lipidol. 33, 336–341 (2022).
pubmed: 35779062
pmcid: 9640274
doi: 10.1097/MOL.0000000000000835
Bauer, M. S., Damschroder, L., Hagedorn, H., Smith, J. & Kilbourne, A. M. An introduction to implementation science for the non-specialist. BMC Psychol. 3, 32 (2015).
pubmed: 26376626
pmcid: 4573926
doi: 10.1186/s40359-015-0089-9
Sarkies, M. et al. Avoiding unnecessary hospitalisation for patients with chronic conditions: a systematic review of implementation determinants for hospital avoidance programmes. Implement. Sci. 15, 91 (2020).
pubmed: 33087147
pmcid: 7579904
doi: 10.1186/s13012-020-01049-0
Andermann, A., Blancquaert, I., Beauchamp, S. & Costea, I. Guiding policy decisions for genetic screening: developing a systematic and transparent approach. Public Health Genom. 14, 9–16 (2011).
doi: 10.1159/000272898
Jones, L. K. et al. Developing implementation strategies to improve uptake of guideline-recommended treatments for individuals with familial hypercholesterolemia: a protocol. Res. Soc. Adm. Pharm. 16, 390–395 (2019).
doi: 10.1016/j.sapharm.2019.06.006
Bangash, H. et al. An implementation science framework to develop a clinical decision support tool for familial hypercholesterolemia. J. Pers. Med. 10, 67 (2020).
pubmed: 32717811
pmcid: 7565418
doi: 10.3390/jpm10030067
Lindell, O. P. et al. Clinical decision support for familial hypercholesterolemia (CDS-FH): rationale and design of a cluster randomized trial in primary care. Am. Heart J. 247, 132–148 (2022).
doi: 10.1016/j.ahj.2022.02.005
Jones, L. K. et al. Implementation strategies to improve statin utilization in individuals with hypercholesterolemia: a systematic review and meta-analysis. Implement. Sci. 16, 40 (2021).
pubmed: 33849601
pmcid: 8045284
doi: 10.1186/s13012-021-01108-0
Proctor, E. K. et al. Implementation research in mental health services: an emerging science with conceptual, methodological, and training challenges. Adm. Policy Ment. Health 36, 24–34 (2009).
pubmed: 19104929
doi: 10.1007/s10488-008-0197-4
Michie, S., Van Stralen, M. M. & West, R. The behaviour change wheel: a new method for characterising and designing behaviour change interventions. Implement. Sci. 6, 42 (2011).
pubmed: 21513547
pmcid: 3096582
doi: 10.1186/1748-5908-6-42
Martin, A. C., Gidding, S. S., Wiegman, A. & Watts, G. F. Known and unknowns in the care of paediatric familial hypercholesterolaemia. J. Lipid Res. 58, 1765–1776 (2017).
pubmed: 28701353
pmcid: 5580907
doi: 10.1194/jlr.S074039
National Audit Office. Introducing Integrated Care Systems: joining up local services to improve health outcomes. NAO https://www.nao.org.uk/reports/introducing-integrated-care-systems-joining-up-local-services-to-improve-health-outcomes (2022).
Desai, N. R., Farbaniec, M. & Karalis, D. G. Nonadherence to lipid‐lowering therapy and strategies to improve adherence in patients with atherosclerotic cardiovascular disease. Clin. Cardiol. 46, 13–21 (2022).
pubmed: 36267039
pmcid: 9849440
doi: 10.1002/clc.23935