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Contemporary Homozygous Familial Hypercholesterolemia in the United States: Insights From the CASCADE FH Registry

2023-05-02Journal article Open access
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dc.contributor.authorCuchel, Marina
dc.contributor.authorLee, Paul C.
dc.contributor.authorHudgins, Lisa C.
dc.contributor.authorDuell, P. Barton
dc.contributor.authorAhmad, Zahid
dc.contributor.authorBaum, Seth J.
dc.contributor.authorLinton, MacRae F.
dc.contributor.authorde Ferranti, Sarah D.
dc.contributor.authorBallantyne, Christie M.
dc.contributor.authorLarry, John A.
dc.contributor.authorHemphill, Linda C.
dc.contributor.authorKindt, Iris
dc.contributor.authorGidding, Samuel S.
dc.contributor.authorMartin, Seth S.
dc.contributor.authorMoriarty, Patrick M.
dc.contributor.authorThompson, Paul P.
dc.contributor.authorUnderberg, James A.
dc.contributor.authorGuyton, John R.
dc.contributor.authorAndersen, Rolf L.
dc.contributor.authorWhellan, David J.
dc.contributor.authorBenuck, Irwin
dc.contributor.authorKane, John P.
dc.contributor.authorMyers, Kelly
dc.contributor.authorHoward, William
dc.contributor.authorStaszak, David
dc.contributor.authorJamison, Allison
dc.contributor.authorCard, Mary C.
dc.contributor.authorBourbon, Mafalda
dc.contributor.authorChora, Joana R.
dc.contributor.authorRader, Daniel J.
dc.contributor.authorKnowles, Joshua W.
dc.contributor.authorWilemon, Katherine
dc.contributor.authorMcGowan, Mary P.
dc.date.accessioned2024-02-09T14:00:11Z
dc.date.available2024-02-09T14:00:11Z
dc.date.issued2023-05-02
dc.descriptionErratum in: J Am Heart Assoc. 2023 Jun 6;12(11):e027706. doi: 10.1161/JAHA.122.027706. Epub 2023 Jun 1.pt_PT
dc.descriptionFree PMC article: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10227232/pt_PT
dc.description.abstractBackground: Homozygous familial hypercholesterolemia (HoFH) is a rare, treatment-resistant disorder characterized by earlyonset 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 lowdensity lipoprotein cholesterol levels were lower in adults than children (533 versus 776mg/dL; P=0.001). At enrollment, atherosclerotic cardiovascular disease and supravalvular and aortic valve stenosis were present in 78.4% and 43.8% and 25.5% and 18.8% of adults and children, respectively. At most recent follow-up, despite multiple lipid-lowering treatment, low-density lipoprotein cholesterol goals were achieved in only a minority of adults and children. Query of the Family Heart Database identified 277 individuals with profiles similar to patients with genetically confirmed HoFH. Advanced lipid-lowering treatments were prescribed for 18%; 40% were on no lipid-lowering treatment; atherosclerotic cardiovascular disease was reported in 20%; familial hypercholesterolemia diagnosis was uncommon. Conclusions: Only patients with the most severe HoFH phenotypes are diagnosed early. HoFH remains challenging to treat. Results from the Family Heart Database indicate HoFH is systemically underdiagnosed and undertreated. Earlier screening, aggressive lipid-lowering treatments, and guideline implementation are required to reduce disease burden in HoFH.pt_PT
dc.description.sponsorshipDr Martin is supported by grants/contracts from the American Heart Association (20SFRN35380046, 20SFRN35490003, 878924, and 882415), Patient‐Centered Outcomes Research Institute (PCORI) (ME‐2019C1‐15328), National Institutes of Health (NIH) (R01AG071032 and P01 HL108800), the David and June Trone Family Foundation, Pollin Digital Health Innovation Fund, and Sandra and Larry Small; Dr Knowles is supported by the NIH through grants P30 DK116074 (to the Stanford Diabetes Research Center), R01 DK116750, R01 DK120565, and R01 DK106236; and by a grant from the Bilateral Science Foundation. Dr Linton is supported by NIH grants P01HL116263, HL148137, HL159487, and HL146134.pt_PT
dc.description.versioninfo:eu-repo/semantics/publishedVersionpt_PT
dc.identifier.citationJ Am Heart Assoc. 2023 May 2;12(9):e029175. doi: 10.1161/JAHA.122.029175. Epub 2023 Apr 29.pt_PT
dc.identifier.doi10.1161/JAHA.122.029175pt_PT
dc.identifier.issn2047-9980
dc.identifier.urihttp://hdl.handle.net/10400.18/9074
dc.language.isoengpt_PT
dc.peerreviewedyespt_PT
dc.publisherWiley/ American Heart Associationpt_PT
dc.relation.publisherversionhttps://www.ahajournals.org/doi/10.1161/JAHA.122.029175pt_PT
dc.rights.urihttp://creativecommons.org/licenses/by-nc/4.0/pt_PT
dc.subjectAtherosclerotic Cardiovascular Diseasept_PT
dc.subjectHomozygous Familial Hypercholesterolemiapt_PT
dc.subjectLipid-lowering Treatmentspt_PT
dc.subjectLow-density Lipoprotein Cholesterolpt_PT
dc.subjectXanthomaspt_PT
dc.subjectDoenças Cardio e Cérebro-vascularespt_PT
dc.titleContemporary Homozygous Familial Hypercholesterolemia in the United States: Insights From the CASCADE FH Registrypt_PT
dc.typejournal article
dspace.entity.typePublication
oaire.citation.issue9pt_PT
oaire.citation.startPagee029175pt_PT
oaire.citation.titleJournal of the American Heart Associationpt_PT
oaire.citation.volume12pt_PT
rcaap.embargofctAcesso de acordo com a política editorial da revista.pt_PT
rcaap.rightsopenAccesspt_PT
rcaap.typearticlept_PT

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