The prevalence of premature atherosclerotic cardiovascular disease (ASCVD) ranges from 7% to 30%, but the incidence in young patients is increasing. Traditional risk factors, such as hypertension, hyperlipidemia, obesity, and diabetes, have an increasing prevalence in young patients and especially in young women. A 32-year-old woman presented with dyspnea and exertional chest pain. She had a history of familial hypercholesterolemia and unidentified aortic valve disease status after a pulmonary autograft at the age of 20. Due to insurance changes with the onset of the COVID-19 pandemic, she lost access to specialty care. She was not on any cholesterol-lowering agents prior to admission. An electrocardiogram demonstrated no ST changes with elevated high-sensitivity troponin-I concerning for non-ST elevation myocardial infarction. Laboratory data also revealed elevated LDL-C greater than 400. Due to concern for multivessel disease and complex anatomy, she underwent coronary computerized tomography angiography, which verified her multivessel coronary artery disease. An echocardiogram demonstrated a preserved ejection fraction and moderate aortic regurgitation. Her coronary artery bypass graft was deferred due to possible future valvular surgery. She underwent percutaneous coronary intervention with drug-eluting stents to left circumflex and left anterior descending arteries. Familial hypercholesterolemia is a prevalent but under-recognized and under-treated risk factor for premature ASCVD, which can be adequately identified through improved risk assessment and managed with aggressive combination anti-hyperlipidemia therapy.
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http://dx.doi.org/10.1016/j.crwh.2024.e00641 | DOI Listing |
Circulation
March 2025
State Key Laboratory of Metabolism and Regulation in Complex Organisms, Hubei Key Laboratory of Cell Homeostasis, College of Life Sciences, TaiKang Center for Life and Medical Sciences, Wuhan University, China. (Y.G., X.L., X.Z., M.L., M.D., Y.W.).
Background: Low-density lipoprotein (LDL) is internalized into cells mainly through LDLR (LDL receptor)-mediated endocytosis. In an acidic endosome, LDLR is released from LDL and recycles back to the cell surface, whereas LDL is left in the endosome and degraded in the lysosome. Circulating PCSK9 (proprotein convertase subtilisin/kexin 9) binds with LDLR and is internalized into the endosome, similar to LDL.
View Article and Find Full Text PDFCurr Opin Lipidol
March 2025
Department of Medicine, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa.
Purpose Of Review: Individuals with familial hypercholesterolemia (FH), particularly those with homozygous FH (HoFH) who have markedly elevated LDL-cholesterol (LDL-C) levels from birth, present with unique complications during pregnancy. This review explores the complexities of FH care during pregnancy.
Recent Findings: The worldwide burden of FH is much greater than previously thought.
Swiss Med Wkly
February 2025
Department of Cardiology, Inselspital, Bern University Hospital and University of Bern, Bern, Switzerland.
We present the first case in Switzerland of a patient with homozygous familial hypercholesterolaemia treated with evinacumab, a new recombinant human monoclonal antibody currently approved in Europe and in the USA but not yet in Switzerland. Homozygous familial hypercholesterolaemia is a rare genetic disorder that causes severely elevated levels of low-density lipoprotein (LDL) cholesterol and early atherosclerotic cardiovascular disease, which, if left untreated, can lead to premature death. As a result of this newly introduced treatment, the patient's LDL cholesterol levels were reduced by more than half, achieving recommended target values of secondary prevention for the first time.
View Article and Find Full Text PDFJ Biomol Struct Dyn
March 2025
Department of Clinical and Toxicological Analyses, School of Pharmaceutical Sciences, University of Sao Paulo, São Paulo, Brazil.
ATP-binding cassette (ABC) proteins are membrane transporters responsible for metabolites and active substances removal from cells. Their genes' variations have been associated with protein function and expression defects. Familial Hypercholesterolemia (FH) patients hosting those alterations might compromise the efficacy of high-dose statin treatment, a primary therapeutic strategy.
View Article and Find Full Text PDFBMC Med
March 2025
China-Australia Joint Research Center for Infectious Diseases, School of Public Health, Xi'an Jiaotong University Health Science Center, Xi'an, Shaanxi, 710061, China.
Background: Mortality from familial hypercholesterolemia (FH) remains high due to late diagnosis, and the rate of timely diagnosis remains low (< 10% globally and < 1% in China). Early screening and treatment could significantly reduce mortality risk, especially among young adults. This study aims to evaluate the cost-effectiveness of universal genetic screening of young adults aged 18-40 years compared to universal cholesterol screening or current passive screening strategies (opportunistic cholesterol screening and genetic cascade testing) for FH in China.
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