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BMJ Open
May 2024
Division of Cardiology, John H Stroger Jr Hospital of Cook County, Chicago, Illinois, USA.
Int J Mol Sci
January 2024
Department of Nephrocardiology, Medical University of Lodz, ul. Zeromskiego 113, 90-549 Lodz, Poland.
Familial hypercholesterolemia (FH) is a genetic disorder primarily transmitted in an autosomal-dominant manner. We distinguish two main forms of FH, which differ in the severity of the disease, namely homozygous familial hypercholesterolemia (HoFH) and heterozygous familial hypercholesterolemia (HeFH). The characteristic feature of this disease is a high concentration of low-density lipoprotein cholesterol (LDL-C) in the blood.
View Article and Find Full Text PDFJ Lipid Res
February 2024
Department of Cardiology, Cardiovascular Institute, Thorax Center, Erasmus MC, Rotterdam, The Netherlands; Department of Precision and Microsystems Engineering, Delft University of Technology, Delft, The Netherlands; Wellman Center for Photomedicine, Massachusetts General Hospital, Boston, MA, USA. Electronic address:
Clin Genet
March 2024
Heart Center, Qingdao Women and Children's Hospital, Qingdao University, Qingdao, China.
Familial hypercholesterolemia (FH) is defined as a monogenic disease, characterized by elevated low-density lipoprotein cholesterol (LDL-C) levels. FH remains underdiagnosed and undertreated in Chinese. We whole-genome sequenced 6820 newborns from Qingdao of China to investigate the FH-related gene (LDLR, APOB, PCSK9) mutation types, carrier ratio and genotype-phenotype correlation.
View Article and Find Full Text PDFInt J Environ Res Public Health
September 2023
Clinica Medica, Cattinara Hospital, Department of Medical Surgical and Health Science, University of Trieste, 34149 Trieste, Italy.
Cardiovascular disease (CVD) is still a leading cause of morbidity and mortality, despite all the progress achieved as regards to both prevention and treatment. Having high levels of lipoprotein(a) [Lp(a)] is a risk factor for cardiovascular disease that operates independently. It can increase the risk of developing cardiovascular disease even when LDL cholesterol (LDL-C) levels are within the recommended range, which is referred to as residual cardiovascular risk.
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