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Aims: Familial hypercholesterolemia (FH) is currently underdiagnosed and undertreated. The establishment of a FH registry could facilitate a deeper understanding of this disease. We described the clinical characteristics of subjects with FH from the Thai FH Registry, compared our data with the regional and global data, and identified gaps in the care of these subjects.
Methods: A multicenter, nationwide prospective FH registry was established in Thailand. Our data were compared with those of the European Atherosclerosis Society-FH Studies Collaboration. Multiple logistic regression analyses were performed for variables associated with lipid-lowering medication (LLM) use and the attainment of low-density lipoprotein-cholesterol (LDL-C) goal.
Results: The study includes 472 subjects with FH (mean age at FH diagnosis: 46±12 years, 61.4% women). A history of premature coronary artery disease was found in 12%. The percentage of LLM use in subjects with a Dutch Lipid Clinic Network score of ≥ 6 (probable or definite FH) in our registry (64%) was slightly lower than the regional data but higher than the global data. Among those who received statins, 25.2% and 6.4% achieved LDL-C levels of <100 mg/dL and <70 mg/dL, respectively. Women with FH were less likely to achieve LDL-C <70 mg/dL (adjusted odds ratio: 0.22, 95% confidence interval: 0.06-0.71, p=0.012).
Conclusions: FH in Thailand was diagnosed late, and treatment was inadequate for the majority of subjects. Women with FH were less likely to achieve LDL-C goals. Our insights could potentially help raise awareness and narrow the gap in patient care.
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http://dx.doi.org/10.5551/jat.64081 | 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