{"title":"Genetic considerations in the treatment of familial hypercholesterolemia","authors":"A. Moyer, L. Baudhuin","doi":"10.2217/clp.15.33","DOIUrl":null,"url":null,"abstract":"Abstract Familial hypercholesterolemia is an inherited disease characterized by a markedly increased concentration of LDL-bound cholesterol and can lead to premature cardiovascular disease. Most cases are due to autosomal dominant mutations in LDLR, APOB or PCSK9. Although most patients receive high-dose statin therapy, many are still unable to achieve desired lipid levels. For these patients, additional therapies, including LDL-apheresis are considered. Recently, there has been progress in the treatment of familial hypercholesterolemia with the development of PCSK9 inhibitors, a microsomal triglyceride transport protein inhibitor, and an antisense oligonucleotide against APOB. Addition of these new therapeutics to those in existence is likely to decrease morbidity and mortality associated with familial hypercholesterolemia.","PeriodicalId":55252,"journal":{"name":"Clinical Lipidology","volume":"17 1","pages":"387 - 403"},"PeriodicalIF":0.0000,"publicationDate":"2015-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"1","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Clinical Lipidology","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.2217/clp.15.33","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q","JCRName":"Medicine","Score":null,"Total":0}
引用次数: 1
Abstract
Abstract Familial hypercholesterolemia is an inherited disease characterized by a markedly increased concentration of LDL-bound cholesterol and can lead to premature cardiovascular disease. Most cases are due to autosomal dominant mutations in LDLR, APOB or PCSK9. Although most patients receive high-dose statin therapy, many are still unable to achieve desired lipid levels. For these patients, additional therapies, including LDL-apheresis are considered. Recently, there has been progress in the treatment of familial hypercholesterolemia with the development of PCSK9 inhibitors, a microsomal triglyceride transport protein inhibitor, and an antisense oligonucleotide against APOB. Addition of these new therapeutics to those in existence is likely to decrease morbidity and mortality associated with familial hypercholesterolemia.
期刊介绍：
The Journal of Clinical Lipidology is published to support the diverse array of medical professionals who work to reduce the incidence of morbidity and mortality from dyslipidemia and associated disorders of lipid metabolism. The Journal''s readership encompasses a broad cross-section of the medical community, including cardiologists, endocrinologists, and primary care physicians, as well as those involved in the treatment of such disorders as diabetes, hypertension, and obesity. The Journal also addresses allied health professionals who treat the patient base described above, such as pharmacists, nurse practitioners and dietitians. Because the scope of clinical lipidology is broad, the topics addressed by the Journal are equally diverse. Typical articles explore lipidology as it is practiced in the treatment setting, recent developments in pharmacological research, reports of treatment and trials, case studies, the impact of lifestyle modification, and similar academic material of interest to the practitioner. While preference is given to material of immediate practical concern, the science that underpins lipidology is forwarded by expert contributors so that evidence-based approaches to reducing cardiovascular and coronary heart disease can be made immediately available to our readers. Sections of the Journal will address pioneering studies and the clinicians who conduct them, case studies, ethical standards and conduct, professional guidance such as ATP and NCEP, editorial commentary, letters from readers, National Lipid Association (NLA) news and upcoming event information, as well as abstracts from the NLA annual scientific sessions and the scientific forums held by its chapters, when appropriate.
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