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Purpose Of Review: Patients with heterozygous familial hypercholesterolemia (HeFH) are at increased risk for COVID-19 cardiovascular complications in the acute phase of the infection. Elevated levels of LDL-C and often lipoprotein(a) are present from birth and lead to endothelial dysfunction, which is aggravated by a direct viral attack of the endothelial cells and their exposure to the toxic levels of circulating proinflammatory and prothrombotic mediators during the hyperinflammatory reaction typical of COVID-19.
Recent Findings: Evidence to date shows the benefit of lipid-lowering therapy in patients with COVID-19. In HeFH patients who are at much higher cardiovascular risk, the focus should, therefore, be on the effective lowering of LDL-C levels, the root cause of the greater cardiovascular vulnerability to COVID-19 infection in these patients. The ongoing use of statins and other lipid-lowering therapies should be encouraged during the ongoing COVID pandemic to mitigate the risk of cardiovascular complications from COVID-19, particularly in HeFH patients.
Summary: Epidemiologic registry data show that the incidence of myocardial infarction is increased in SARS-CoV-2-infected HeFH patients. There is a need to study whether the risk for acute cardiovascular events is increased in the long-term and if there are changes in lipid metabolism after SARS-CoV infection(s) in patients with HeFH.
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http://dx.doi.org/10.1097/MOL.0000000000000876 | DOI Listing |
Cardiovasc Res
September 2025
Cardiovascular Medicine, Guangdong Provincial People's Hospital, Guangzhou, China.
Aims: Heterozygous familial hypercholesterolemia (HeFH) is a genetic disorder, characterised by high plasma concentrations of low-density lipoprotein cholesterol (LDL-C) from birth. This study aimed to assess the efficacy and safety of recaticimab, a new humanised anti-PCSK9 antibody capable of reducing LDL-C levels in patients with poorly controlled HeFH.
Methods And Results: REMAIN-3 was a multicentre, randomised, double-blind, placebo-controlled phase 3 study done at 25 sites in China.
JACC Asia
September 2025
Cardiovascular Center, Osaka Medical and Pharmaceutical University, Takatsuki, Japan.
Homozygous familial hypercholesterolemia (HoFH) is a rare situation where biallelic genetic disturbance of low-density lipoprotein (LDL) metabolism leads to extreme elevation of LDL cholesterol. There is a great variety of severity in their phenotype, where some patients exhibit premature supravalvular aortic stenosis at their early childhood, whereas others experience myocardial infarction at their adolescence. In addition, there is a set of familial hypercholesterolemia (FH) patients whose phenotype fall into between heterozygous FH and HoFH.
View Article and Find Full Text PDFBiology (Basel)
August 2025
Department of Bioengineering, Clemson University, Clemson, SC 29634, USA.
We previously demonstrated lipid nanoparticle-mediated CRISPR-Cas9 gene editing to disrupt the gene encoding cytochrome P450 oxidoreductase (Cypor), combined with transient administration of acetaminophen (APAP), to repopulate the liver with healthy hepatocytes and rescue a phenylketonuria mouse model. This study aimed to investigate electroporation-mediated delivery of -targeting CRISPR-Cas9 ribonucleoproteins into wild-type hepatocytes, combined with liver engraftment under APAP treatment, as an in vivo selection approach in a mouse model of homozygous familial hypercholesterolemia (). Electroporation provides higher delivery efficiency compared to lipid nanoparticles.
View Article and Find Full Text PDFAnn Med Surg (Lond)
September 2025
Department of Internal Medicine, Faculty of Medicine and Biomedical Sciences of Garoua, University of Garoua, Garoua, Cameroon.
Background: Familial hypercholesterolemia (FH) is a prevalent inherited disorder marked by elevated low-density lipoprotein cholesterol (LDL-C) levels, predisposing individuals to premature cardiovascular disease and related morbidities. Traditional treatments often fail to achieve target LDL-C levels in many patients, necessitating novel therapies. Tafolecimab, a monoclonal antibody targeting PCSK9, shows promise in managing HeFH by enhancing LDL receptor recycling and LDL-C clearance.
View Article and Find Full Text PDFMed Res Arch
December 2024
Department of Genomic Health, Geisinger, Danville, PA, USA.
Homozygous familial hypercholesterolemia (HoFH) is an autosomal semi-dominant condition characterized by biallelic pathogenic variants impacting low-density lipoprotein receptor (LDLR) function. Affected individuals have severely elevated LDL cholesterol, early onset atherosclerotic heart disease and/or aortic stenosis, and characteristic clinical findings. While the cause is known and diagnosis is relatively simple, real-world HoFH care presents many complexities, including genetic heterogeneity and the diverse personal and social circumstances that influence care.
View Article and Find Full Text PDF