Homozygous Familial Hypercholesterolemia Is a Life-Limiting Condition Medical Life-Trajectories in the Post-2010 Era

Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216224%3A14110%2F25%3A00142558" target="_blank" >RIV/00216224:14110/25:00142558 - isvavai.cz</a>
Result on the web
<a href="https://www.sciencedirect.com/science/article/pii/S0735109725061674?pes=vor&utm_source=clarivate&getft_integrator=clarivate" target="_blank" >https://www.sciencedirect.com/science/article/pii/S0735109725061674?pes=vor&utm_source=clarivate&getft_integrator=clarivate</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1016/j.jacc.2025.04.005" target="_blank" >10.1016/j.jacc.2025.04.005</a>

Result language
angličtina
Original language name
Homozygous Familial Hypercholesterolemia Is a Life-Limiting Condition Medical Life-Trajectories in the Post-2010 Era
Original language description
Homozygous familial hypercholesterolemia (HoFH) is a rare (∼1:360,000) genetic disorder characterized by extremely high low-density lipoprotein cholesterol (LDL-C) levels, leading to premature atherosclerotic cardiovascular disease (ASCVD) and early death. HoFH is typically caused by bi-allelic pathogenic variants in low-density lipoprotein receptor (LDLR), APOB, and/or PCSK9 genes via a semidominant inheritance pattern, while LDLRAP1 pathogenic variants cause a rare recessive form. Phenotypic severity is generally correlated with residual LDLR function. Lipid-lowering treatment (LLT) is initiated with a combination of high-intensity statin and ezetimibe, followed by a trial of proprotein convertase subtilisin-kexin type 9 (PCSK9) inhibitor therapy, which is continued if LDL-C reduction is >15%. If LDL-C goals remain unmet, LDLR-independent drugs, apheresis, or rarely liver transplantation are pursued.1 Despite combination LLT, most patients with HoFH do not reach guideline-recommended LDL-C goals. Data on life-courses largely stem from older case reports and case series when more recent LLT were not available. We describe characteristics and clinical courses of HoFH patients under contemporary care, with particular focus on deceased patients.
Czech name
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Czech description
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Type
J<sub>SC</sub> - Article in a specialist periodical, which is included in the SCOPUS database
CEP classification
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OECD FORD branch
30201 - Cardiac and Cardiovascular systems

Project
<a href="/en/project/LX22NPO5104" target="_blank" >LX22NPO5104: National Institute for Research of Metabolic and Cardiovascular Diseases</a><br>
Continuities
P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)

Publication year
2025
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

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