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

Kód výsledku v 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>

Výsledek na webu

<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>

Jazyk výsledku

angličtina

Název v původním jazyce

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

Popis výsledku v původním jazyce

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 &gt;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.

Název v anglickém jazyce

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

Popis výsledku anglicky

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 &gt;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.

Druh

J_SC - Článek v periodiku v databázi SCOPUS

CEP obor

—

OECD FORD obor

30201 - Cardiac and Cardiovascular systems

Projekt

<a href="/cs/project/LX22NPO5104" target="_blank" >LX22NPO5104: Národní institut pro výzkum metabolických a kardiovaskulárních onemocnění</a><br>

Návaznosti

P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)

Rok uplatnění

2025

Kód důvěrnosti údajů

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Název periodika

JACC-JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

ISSN

0735-1097

e-ISSN

1558-3597

Svazek periodika

85

Číslo periodika v rámci svazku

19

Stát vydavatele periodika

US - Spojené státy americké

Počet stran výsledku

6

Strana od-do

1898-1903

Kód UT WoS článku

001494934200011

EID výsledku v databázi Scopus

2-s2.0-105004209571