ArticleJournal of the American Heart Association2023
Contemporary Homozygous Familial Hypercholesterolemia in the United States: Insights From the CASCADE FH Registry.
Erratum issuedOpen access · goldAbstract read
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Article in Journal of the American Heart Association, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 19 papers.
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19citing papers in PubMed
14.6field-weighted citation impact, top 1% of its field
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Who cites it
19 citing papers in PubMed, 46 citations in OpenAlex.
- Evinacumab for Homozygous Familial Hypercholesterolemia: The Italian Cohort of the ELIPSE HoFH Study.Advances in therapy · 2025Trial
- Treatment patterns in homozygous familial hypercholesterolemia: Undertreatment and delayed adoption of low-density lipoprotein receptor-independent therapies.American journal of preventive cardiology · 2026Article
- Atherosclerosis at Warp Speed: The Urgent Lessons of Homozygous Familial Hypercholesterolemia.JACC. Case reports · 2026Article
- AAV gene therapy for homozygous familial hypercholesterolemia: a phase 1 trial.Nature medicine · 2026Article
- Familial Hypercholesterolemia.Methodist DeBakey cardiovascular journal · 2026Review
- Lipoprotein(a) and recurrent atherosclerotic cardiovascular events: the US Family Heart Database.European heart journal · 2025Article
- Diagnostic and Therapeutic Challenges of Homozygous and Severe Heterozygous Familial Hypercholesterolemia from Clinical Aspect-A Single-Center Study.Journal of clinical medicine · 2025Article
- Comparison of Model-Predicted and Observed Evinacumab Pharmacokinetics and Efficacy in Children Aged < 5 Years With Homozygous Familial Hypercholesterolemia.CPT: pharmacometrics & systems pharmacology · 2025Article
- State-of-the-art review: The value of leveraging evidence and data (LEAD) in pediatric screening for familial hypercholesterolemia.American journal of preventive cardiology · 2025Review
- Pediatric Familial Hypercholesterolemia: Targeting Intestinal Absorption and Other Therapeutic Strategies.Nutrients · 2025Review
- Life Course Approach for Managing Familial Hypercholesterolemia.Journal of the American Heart Association · 2025Review
- A strategy to increase identification of patients with Familial Hypercholesterolemia: Application of the Simon Broome lipid criteria in a large-scale retrospective analysis.American journal of preventive cardiology · 2025Article
- Evinacumab: Mechanism of action, clinical, and translational science.Clinical and translational science · 2024Review
- A machine-learning algorithm using claims data to identify patients with homozygous familial hypercholesterolemia.Scientific reports · 2024Article
- Article
- It is Time to Screen for Homozygous Familial Hypercholesterolemia in the United States.Global heart · 2024Article
- Paradoxical Findings in Homozygous Familial Hypercholesterolemia in Japan: Longer Life But Still Not Totally Better!JACC. Asia · 2023Article
- Closing the Gaps in Care of Dyslipidemia: Revolutionizing Management with Digital Health and Innovative Care Models.Reviews in cardiovascular medicine · 2023Review
- Evinacumab Therapy for Homozygous Familial Hypercholesterolemia: Driving Lipoprotein Clearance Via the Road Less Taken.JACC. Advances · 2023Article
Corrections and comments
- Erratum issued
Authors and funding
33 authors at 20 institutions in 2 countries.
Marina CuchelDivision of Translational Medicine and Human Genetics, Department of Medicine Perelman School of Medicine at the University of Pennsylvania Philadelphia PA.ORCID 0000-0001-6808-3824
Paul C LeeDivision of Translational Medicine and Human Genetics, Department of Medicine Perelman School of Medicine at the University of Pennsylvania Philadelphia PA.ORCID 0000-0002-3846-843X
Lisa C HudginsThe Rogosin Institute/Weill Cornell Medical College New York NY.
P Barton DuellCenter for Preventive Cardiology, Knight Cardiovascular Institute, and Division of Endocrinology, Diabetes, and Clinical Nutrition, Department of Medicine Oregon Health and Science University Portland OR.
Zahid AhmadDivision of Endocrinology, Department of Internal Medicine UT Southwestern Medical Center Dallas TX.
Seth J BaumFlourish Research Boca Raton FL.
MacRae F LintonDivision of Cardiovascular Medicine, Department of Medicine Vanderbilt University Medical Center Nashville TN.ORCID 0000-0002-9277-0453
Sarah D de FerrantiDepartment of Cardiology Boston Children Hospital Boston MA.
Christie M BallantyneBaylor College of Medicine Houston TX.ORCID 0000-0002-6432-1730
John A LarryOhio State University Wexner Medical Center Columbus OH.
Linda C HemphillMassachusetts General Hospital Boston MA.
Iris KindtDEARhealth INC. Los Angeles CA.ORCID 0000-0003-2852-0596
Samuel S GiddingGeisinger Danville PA.ORCID 0000-0002-8557-7225
Seth S MartinDivision of Cardiology, Department of Medicine, Ciccarone Center for the Prevention of Cardiovascular Disease Johns Hopkins University School of Medicine Baltimore MD.ORCID 0000-0002-7021-7622
Patrick M MoriartyUniversity of Kansas Medical Center Kansas City KS.ORCID 0000-0001-5548-4493
Paul P ThompsonHartford Hospital Hartford CT.
James A UnderbergNYU Langone Medical Center New York NY.ORCID 0000-0002-6615-8535
John R GuytonDivision of Endocrinology, Metabolism, and Nutrition, Department of Medicine Duke University Medical Center Durham NC.ORCID 0000-0003-0224-7923
Rolf L AndersenLancaster General Health/Penn Medicine Lancaster PA.
David J WhellanThomas Jefferson University Philadelphia PA.ORCID 0000-0002-6287-8690
Irwin BenuckDepartment of Pediatrics Feinberg School of Medicine Chicago IL.
John P KaneUC San Francisco San Francisco CA.
Kelly MyersFamily Heart Foundation Pasadena CA.ORCID 0000-0002-6142-6748
William HowardAtomo Inc. Austin TX.
David StaszakAtomo Inc. Austin TX.
Allison JamisonFamily Heart Foundation Pasadena CA.
Mary C CardFamily Heart Foundation Pasadena CA.
Mafalda BourbonUnidade de I&D, Grupo de Investigação Cardiovascular, Departamento de Promoção da Saúde e Prevenção de Doenças Não Transmissíveis Instituto Nacional de Saúde Doutor Ricardo Jorge, Lisboa AND BioISI-Biosystems and Integrative Sciences Institute, Faculdade de Ciências, Universidade de Lisboa Lisboa Portugal.ORCID 0000-0001-8843-3799
Joana R ChoraUnidade de I&D, Grupo de Investigação Cardiovascular, Departamento de Promoção da Saúde e Prevenção de Doenças Não Transmissíveis Instituto Nacional de Saúde Doutor Ricardo Jorge, Lisboa AND BioISI-Biosystems and Integrative Sciences Institute, Faculdade de Ciências, Universidade de Lisboa Lisboa Portugal.ORCID 0000-0003-4942-1730
Daniel J RaderDivision of Translational Medicine and Human Genetics, Department of Medicine Perelman School of Medicine at the University of Pennsylvania Philadelphia PA.ORCID 0000-0002-9245-9876
Joshua W KnowlesFamily Heart Foundation Pasadena CA.ORCID 0000-0003-1922-7240
Katherine WilemonFamily Heart Foundation Pasadena CA.ORCID 0000-0003-4629-6866
Mary P McGowanFamily Heart Foundation Pasadena CA.ORCID 0000-0001-5761-9267
Heart Foundation · USUniversity of Pennsylvania · USUniversity of Lisbon · PTBaylor College of Medicine · USBoston Children's Museum · USCardiovascular Institute of the South · USCornell University · USDartmouth–Hitchcock Medical Center · USDuke Medical Center · USGeisinger Medical Center · USHartford Hospital · USJohns Hopkins University · USLancaster General Hospital · USMassachusetts General Hospital · USNYU Langone Health · USOregon Health & Science University · USSouthwestern Medical CenterThe Ohio State University Wexner Medical Center · USThomas Jefferson University · USUniversity of California, San Francisco · US
Funding
Non-coding RNA & Bioinformatics CoreP01HL116263 · NHLBI · VANDERBILT UNIVERSITY MEDICAL CENTER · PI LINTON, MACRAE F · 2014 to 2025
$24.7MSex Hormones in Pulmonary Arterial HypertensionP01HL108800 · NHLBI · VANDERBILT UNIVERSITY MEDICAL CENTER · PI NEWMAN, JOHN HUGHES · 2012 to 2021
$22.0MStanford Islet Research CoreP30DK116074 · NIDDK · STANFORD UNIVERSITY · PI Seung K Kim · 2017 to 2026
$19.5MUT Southwestern NORCP30DK127984 · NIDDK · UT SOUTHWESTERN MEDICAL CENTER · PI Jeff G McDonald · 2022 to 2026
$7.4MLeveraging the 24-hour movement paradigm to preserve cognitive function and prevent Alzheimer's disease: The Multi-Ethnic Study of Atherosclerosis (MESA) 24H-ACT StudyR01AG071032 · NIA · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI DIAZ, KEITH M, GABRIEL, KELLEY PETTEE · 2021 to 2024
$7.3MCharacterization of novel insulin resistance genes by gene editing, high-throughput phenotyping and in vivo studiesR01DK120565 · NIDDK · STANFORD UNIVERSITY · PI KNOWLES, JOSHUA WILEY · 2019 to 2023
$3.2MMechanisms of NAT2 Regulation of Insulin Resistance and Mitochondrial DysfunctionR01DK116750 · NIDDK · STANFORD UNIVERSITY · PI KNOWLES, JOSHUA WILEY · 2019 to 2023
$2.4MBeyond GWAS of insulin resistance: An integrated approach to translate genetic association to functionR01DK106236 · NIDDK · STANFORD UNIVERSITY · PI KNOWLES, JOSHUA WILEY · 2016 to 2020
$2.4MNHLBI NIH HHS P01 HL108800NHLBI NIH HHS P01 HL116263NIA NIH HHS R01 AG071032NIDDK NIH HHS P30 DK127984NIDDK NIH HHS R01 DK106236NIDDK NIH HHS R01 DK116750NIDDK NIH HHS R01 DK120565
Abstract
Background Homozygous familial hypercholesterolemia (HoFH) is a rare, treatment-resistant disorder characterized by early-onset atherosclerotic and aortic valvular cardiovascular disease if left untreated. Contemporary information on HoFH in the United States is lacking, and the extent of underdiagnosis and undertreatment is uncertain. Methods and Results Data were analyzed from 67 children and adults with clinically diagnosed HoFH from the CASCADE (Cascade Screening for Awareness and Detection) FH Registry. Genetic diagnosis was confirmed in 43 patients. We used the clinical characteristics of genetically confirmed patients with HoFH to query the Family Heart Database, a US anonymized payer health database, to estimate the number of patients with similar lipid profiles in a "real-world" setting. Untreated low-density lipoprotein cholesterol levels were lower in adults than children (533 versus 776 mg/dL;
Indexed as
Anticholesteremic AgentsAtherosclerosisCardiovascular DiseasesHomozygous Familial HypercholesterolemiaHyperlipoproteinemia Type IICholesterol, LDLHomozygoteHumansRegistriesUnited StatesAnticholesteremic AgentsCholesterol, LDLatherosclerotic cardiovascular diseasehomozygous familial hypercholesterolemialipid‐lowering treatmentslow‐density lipoprotein cholesterolxanthomas
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