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• W3123357354 abstract "HomeCirculation: Cardiovascular Quality and OutcomesVol. 14, No. 2Addressing Gaps in Racial/Ethnic Representation in Familial Hypercholesterolemia Registries Free AccessArticle CommentaryPDF/EPUBAboutView PDFView EPUBSections ToolsAdd to favoritesDownload citationsTrack citationsPermissions ShareShare onFacebookTwitterLinked InMendeleyRedditDiggEmail Jump toFree AccessArticle CommentaryPDF/EPUBAddressing Gaps in Racial/Ethnic Representation in Familial Hypercholesterolemia RegistriesImplications and Recommendations for Equitable Access to Research and Care Reed Mszar, MPH Raul D. Santos, MD, PhD, MSc Khurram NasirMD, MPH, MSc Reed MszarReed Mszar https://orcid.org/0000-0001-8152-8031 Department of Chronic Disease Epidemiology, Yale School of Public Health, New Haven, CT (R.M.). Search for more papers by this author , Raul D. SantosRaul D. Santos https://orcid.org/0000-0002-9860-6582 Lipid Clinic Heart Institute (InCor), University of São Paulo Medical School Hospital Brazil (R.D.S.). Hospital Israelita Albert Einstein, São Paulo, Brazil (R.D.S.). Search for more papers by this author , and Khurram NasirKhurram Nasir Khurram Nasir, MD, MPH, MSc, Division of Cardiovascular Prevention and Wellness, Houston Methodist DeBakey Heart and Vascular Center, Center for Outcomes Research, Houston Methodist, 6550 Fannin St, Suite 1801, Houston, TX 77030. Email E-mail Address: [email protected] https://orcid.org/0000-0001-5376-2269 Division of Cardiovascular Prevention & Wellness, Houston Methodist DeBakey Heart & Vascular Center, Houston, TX (K.N.). Center for Outcomes Research, Houston Methodist, Houston, TX (K.N.). Search for more papers by this author Originally published29 Jan 2021https://doi.org/10.1161/CIRCOUTCOMES.120.007306Circulation: Cardiovascular Quality and Outcomes. 2021;14:e007306Familial hypercholesterolemia (FH) is prevalent in ≈1 in every 250 to 300 individuals and affects all races and ethnicities.1 Heterozygous FH—often caused by a single pathogenic variant in the LDLR (low-density lipoprotein receptor), APOB (apolipoprotein B), or PCSK9 (proprotein convertase subtilisin/kexin 9) gene—is associated with elevated low-density lipoprotein-cholesterol (LDL-C) levels and a 10- to 20-fold increased risk of premature atherosclerotic cardiovascular disease.1 More than 90% of those affected remain undiagnosed and certain subpopulations, such as French Canadians, Afrikaners, and Christian Lebanese, experience FH at a higher frequency due to the presence of a founder effect.1,2 Many individuals with FH lack access to genetic testing, family cascade screening, as well as prompt treatment with high-intensity lipid-lowering therapies. Despite advances in research and clinical practice, a significant gap remains in our understanding of the unique burden of FH among non-White individuals both in the United States and worldwide.1 Therefore, we aim to draw attention to this contemporary knowledge and care gap and to provide recommendations for meaningfully increasing diversity in national and international FH studies and registries.The critical importance of racial/ethnic participation and representation in clinical research has been previously described and encompasses enhancing the external validity of population-based findings, improving accuracy of analyses in understudied and underrepresented subgroups, and driving equity in the provision of clinical care. In 2019, Clark et al3 reported on a significant lack of representation of racial and ethnic minority populations in cardiovascular and other clinical trials, examining barriers to patients’ willingness to participate in research trials, and offering strategies to increase diversity and representation in biomedical research. The authors described perceived and structural barriers to diverse enrollment, including medical mistrust, stigmatization, and time/resource constraints along with a lack of awareness, information, and comfort with the clinical research process, factors that have been largely attributable to unethical research endeavors, and engrained forms of structural racism in medicine.3 In addition to enhancing diversity of healthcare practitioners and clinical research staff, potential strategies that have been identified to begin addressing the prolonged underrepresentation of non-White individuals in cardiovascular trials include creating an inclusive implementation checklist that involves building meaningful trust, ensuring participant safety, highlighting available support, providing clear information for patient-centered shared decision making, addressing individuals’ perceived constraints, and leveraging a multiple stakeholder approach to communicate a common goal.3 Our Figure provides a brief snapshot of the advantages conferred by meaningfully enhancing diverse racial/ethnic representation in FH studies and registries along with recommendations for steps forward.Download figureDownload PowerPointFigure. Summarized schematic representation illustrating known racial/ethnic disparities in access to clinical care and cardiovascular (CV) outcomes; advantages conferred by diverse representation in CV trials and familial hypercholesterolemia (FH) studies and registries; and brief list of recommendations and potential strategies for increasing health equity, diversity, and inclusion. LDL indicates low-density lipoprotein.Despite a current gap in knowledge regarding the burden of FH and disparities in research and care for non-White individuals and their families, there have been several genetic, clinical, and population-level studies conducted contributing to our understanding at present. Regarding sex-based differences specifically, data from the SAFEHEART (Spanish Familial Hypercholesterolemia Cohort Study) indicated that women were 23% less likely than men to receive a high-intensity statin and 37% less likely to achieve LDL-C goals, though the cohort consisted of a largely homogenous racial/ethnic population with FH.4 In response to a systematic review on statin prescribing for the primary prevention of atherosclerotic cardiovascular disease, Ifidon et al5 underscored the lack of intervention studies focused on disparities in cardiovascular disease prevention along with the disparities that exist in accessing routine medical care, obtaining necessary prescription medications, and gaining access to specialty care services.To date, limited studies have examined the differential burden of FH specifically among non-Hispanic Black and Hispanic individuals as historically underrepresented groups. One study conducted by de Ferranti et al2 utilized 13 years of pooled data from the National Health and Nutrition Examination Surveys to ascertain an approximate prevalence of FH using Dutch Lipid Clinic criteria. Extrapolating the results to US adults aged ≥20 years and reporting a prevalence estimate of 0.40% (1 in 250), the authors found variations disease burden by race and ethnicity.2 Probable/definite FH was approximated as 0.40% (1 in 249) in White individuals, 0.47% (1 in 211) in Black individuals, 0.24% (1 in 414) in Mexican Americans, and 0.29% (1 in 343) among those of other races.Several studies have utilized longitudinal FH registries to provide preliminary findings addressing racial/ethnic disparities. Notably, in a sample of 3167 FH patients enrolled in the CASCADE-FH (Cascade Screening for Awareness and Detection of FH) registry, Amrock et al6 found that Black (odds ratio, 0.49 [95% CI, 0.32–0.74]) and Asian (odds ratio, 0.47 [95% CI, 0.24–0.94]) FH patients were less likely to achieve LDL-C levels <100 mg/dL along with a ≥50% reduction from pretreatment LDL-C levels compared with non-Hispanic White participants. The authors of this particularly notable study suggest several potential mechanisms for the observed differences in LDL-C goal achievement including variations in access to specialty lipid clinics, differences in socioeconomic status and comorbidity profiles, and inconsistent perceptions regarding LDL-C lowering goals.6 In this sample, only 4.9%, 8.2%, and 2.9% of participants identified as Hispanic, Black, and Asian, respectively.6 Additionally, in the ELSA-Brasil cohort study of >15 000 civil servants, Harada et al7 reported that FH diagnosed according to Dutch Lipid Clinic criteria disproportionately affected Brown (1 in 204) and Black (1 in 156) individuals. For pediatric populations, Belay et al8 found that 92% of the 885 children enrolled in pediatric FH statin trials were White, thus highlighting that current family history-based screening strategies may further increase disparities in non-White children.In an effort to elucidate the molecular basis of autosomal dominant hypercholesterolemia in ethnic groups outside those of either European or Japanese descent, Ahmad et al9 found that a higher proportion of non-Hispanic Black individuals had unexplained autosomal dominant hypercholesterolemia compared with non-Hispanic White and Hispanic individuals. Additionally, the low frequency of LDLR mutations in non-Hispanic Black individuals with FH suggests an alternative mechanism for the expression of the FH phenotype among adults of African descent.9Among ≈160 000 patients prescribed a PCSK9 inhibitor, Myers et al10 found that minority patients—along with women and individuals with a lower level of completed education and lower family incomes—were less likely to receive approval for a PCSK9 inhibitor prescription and, if approved, were less likely to fill their prescription. The utilization of longitudinal registries consisting of a larger sample of diverse, non-European individuals may provide critical insight into how these trends manifest over time, whether increased approval rates contribute to improved health outcomes, and identifying pathogenic variants in smaller ancestral subgroups.The utilization of patient registries represents a key opportunity to examine the course of a disease, describe patterns of and variations in care, and evaluate factors influencing longitudinal prognoses and disease management. As outlined in the Global Call to Action led by the FH Foundation and other stakeholders, registries play a critical role in informing the natural history of FH, displaying the benefits of integrating family-based cascade screening for FH, and characterizing diagnostic and treatment disparities for high-risk and underserved individuals and populations.11 Moreover, registries have shown to not only be resources for scientific and medical information and necessary data repositories across distinct geographic regions, but also a critical platform for connecting patients to pertinent clinical trials.11 Considering the number of FH registries and consortia devoted to characterizing diagnostic and treatment patterns, there exists a unique opportunity to assess racial and ethnic variations in the burden of FH at both national and international levels.Given that clinical trials derive their greatest benefit from increased participant diversity for the provision of more comprehensive data on treatment efficacy, increasing racial/ethnic representation in FH registries highlights the need to revisit and potentially revise the frequently utilized absolute LDL-C thresholds commonly applied to the general population but were originally developed based on largely homogenous US and European White populations.1 These thresholds combined with our contemporary knowledge of the role of social determinants of health underscore the importance of closely examining how health disparities contribute to the lived experiences, perceptions, underdiagnosis, and undertreatment among non-White individuals with FH and their families.In addition to recommendations for increasing representation of diverse patients in cardiovascular and hypercholesterolemia trials, a gap remains for those affected by FH, particularly non-White individuals who have been historically excluded from and exploited throughout biomedical research. Increasing a diverse representation of patients confers an array of equitable advancements in research and clinical practice, including the discovery of novel mechanisms for high LDL-C to aid in the development of personalized therapies. Current and future FH studies and registries should prioritize the meaningful evaluation of racial/ethnic differences in diagnosis, screening, treatment, and outcomes for individuals and families affected by FH. Building trust with diverse members of the community, prioritizing funding sources and research initiatives dedicated to equity and inclusion, recognizing implicit bias and structural racism at the individual and institutional level, ensuring participant safety through transparency and a personal commitment to fostering diversity among clinical and research staff, and actively listening to the concerns of all participants and barriers to their registry or trial enrollment all represent key next steps in better understanding the burden experienced by underrepresented and underserved individuals with FH and working collectively to reconcile current disparities in research and care.AcknowledgmentsDr Santos is recipient of a scholarship from Conselho Nacional de Pesquisa e Desenvolvimento Tecnológico, Brazil (CNPq) no. 303734/2018-3.Disclosures Dr Santos has received honoraria related to consulting, research and/or speaker activities from Ache, Amgen, Astra Zeneca, Esperion, Kowa, Novo-Nordisk, Merck, Merck Sharp & Dohme, Pfizer, PTC Therapeutics and Sanofi/Regeneron. Dr Nasir is supported by the Katz Academy for Translational Research. The other author reports no conflicts.FootnotesThe opinions expressed in this article are not necessarily those of the editors or of the American Heart Association.Khurram Nasir, MD, MPH, MSc, Division of Cardiovascular Prevention and Wellness, Houston Methodist DeBakey Heart and Vascular Center, Center for Outcomes Research, Houston Methodist, 6550 Fannin St, Suite 1801, Houston, TX 77030. Email [email protected]orgReferences1. Gidding SS, Champagne MA, de Ferranti SD, Defesche J, Ito MK, Knowles JW, McCrindle B, Raal F, Rader D, Santos RD, et al.; American Heart Association Atherosclerosis, Hypertension, and Obesity in Young Committee of Council on Cardiovascular Disease in Young, Council on Cardiovascular and Stroke Nursing, Council on Functional Genomics and Translational Biology, and Council on Lifestyle and Cardiometabolic Health. The agenda for familial hypercholesterolemia: a scientific statement from the American Heart Association.Circulation. 2015; 132:2167–2192. doi: 10.1161/CIR.0000000000000297LinkGoogle Scholar2. de Ferranti SD, Rodday AM, Mendelson MM, Wong JB, Leslie LK, Sheldrick RC. Prevalence of familial hypercholesterolemia in the 1999 to 2012 United States National Health and Nutrition Examination Surveys (NHANES).Circulation. 2016; 133:1067–1072. doi: 10.1161/CIRCULATIONAHA.115.018791LinkGoogle Scholar3. Clark LT, Watkins L, Piña IL, Elmer M, Akinboboye O, Gorham M, Jamerson B, McCullough C, Pierre C, Polis AB, et al.. Increasing diversity in clinical trials: overcoming critical barriers.Curr Probl Cardiol. 2019; 44:148–172. doi: 10.1016/j.cpcardiol.2018.11.002CrossrefMedlineGoogle Scholar4. Perez de Isla L, Alonso RWatts GF, Mata N, Saltijeral Cerezo A, Muniz OFuentes F, Diaz-Diaz JL, de Andres R, Zambon D, et al.. SAFEHEART Investigators. Attainment of LDL-cholesterol treatment goals in patients with familial hypercholesterolemia: 5-year SAFEHEART registry follow-up.J Am Coll Cardiol. 2016; 67:1278–1285.CrossrefMedlineGoogle Scholar5. Ifidon AM, Agbalajobi O, Essien UR. Improving racial and ethnic minority representation in cardiovascular disease trials to advance health equity.JAMA Cardiol. 2020; 5:611. doi: 10.1001/jamacardio.2020.0167CrossrefMedlineGoogle Scholar6. Amrock SM, Duell PB, Knickelbine T, Martin SS, O’Brien EC, Watson KE, Mitri J, Kindt I, Shrader P, Baum SJ, et al.. Health disparities among adult patients with a phenotypic diagnosis of familial hypercholesterolemia in the CASCADE-FH™ patient registry.Atherosclerosis. 2017; 267:19–26. doi: 10.1016/j.atherosclerosis.2017.10.006CrossrefMedlineGoogle Scholar7. Harada PH, Miname MH, Bensenor IM, Santos RD, Lotufo PA. Familial hypercholesterolemia prevalence in an admixed racial society: Sex and race matter. The ELSA-Brasil.Atherosclerosis. 2018; 277:273–277.CrossrefMedlineGoogle Scholar8. Belay B, Racine AD, Belamarich PF. Underrepresentation of non-White children in trials of statins in children with heterozygous familial hypercholesterolemia.Ethn Dis. 2009; 19:166–171.MedlineGoogle Scholar9. Ahmad Z, Adams-Huet B, Chen C, Garg A. Low prevalence of mutations in known loci for autosomal dominant hypercholesterolemia in a multiethnic patient cohort.Circ Cardiovasc Genet. 2012; 5:666–675. doi: 10.1161/CIRCGENETICS.112.963587LinkGoogle Scholar10. Myers KD, Farboodi N, Mwamburi M, Howard W, Staszak D, Gidding S, Baum SJ, Wilemon K, Rader DJ. Effect of access to prescribed PCSK9 inhibitors on cardiovascular outcomes.Circ Cardiovasc Qual Outcomes. 2019; 12:e005404. doi: 10.1161/CIRCOUTCOMES.118.005404LinkGoogle Scholar11. Wilemon KA, Patel J, Aguilar-Salinas C, Ahmed CD, Alkhnifsawi M, Almahmeed W, Alonso R, Al-Rasadi K, Badimon L, Bernal LM, et al.. Representatives of the Global Familial Hypercholesterolemia Community. Reducing the clinical and public health burden of familial hypercholesterolemia.JAMA Cardiol. 2020; 5:217–229.CrossrefMedlineGoogle Scholar Previous Back to top Next FiguresReferencesRelatedDetails February 2021Vol 14, Issue 2Article InformationMetrics Download: 141 © 2021 American Heart Association, Inc.https://doi.org/10.1161/CIRCOUTCOMES.120.007306PMID: 33508946 Originally publishedJanuary 29, 2021 Keywordsdiversitylipoproteindisparitiescardiovascular diseaseoutcomeshypercholesterolemiagenetic testingPDF download SubjectsDisparitiesPrecision MedicineRace and EthnicityQuality and Outcomes" @default.
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