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Familial hypercholesterolemia is one of the most common autosomal dominant inherited genetic disorders, yet it is frequently undiagnosed, leading to a markedly increased risk for cardiovascular events. Understanding the pathophysiology of the disease as well as the importance of cascade screening is critical to appropriate treatment of patients. Though the mainstay of therapy for heterozygous familial hypercholesterolemia remains statins, many patients require additional therapy including ezetimibe and/or proprotein convertase subtilisin/kexin type 9 (PCSK9) antibodies to achieve adequate low-density lipoprotein cholesterol (LDL-C) lowering. Access to PCSK9 inhibitors remains a significant clinical problem.
This article was published in the following journal.
Name: Reviews in cardiovascular medicine
Genetic cascade screening is the most cost-effective method for the identification of individuals with familial hypercholesterolemia (FH), but the best strategies for the enrollment of at-risk individ...
Familial hypercholesterolemia is a genetic condition where low-density lipoprotein (LDL) receptor defects cause severe elevations of LDL cholesterol. As significant LDL-lowering effects are needed, me...
Children with familial hypercholesterolemia may develop early endothelial damage leading to a high risk for the development of cardiovascular disease (CVD). Statins have been shown to be effective in ...
A few studies examined association between familial hypercholesterolemia (FH) and atherosclerotic cardiovascular disease (ASCVD) in Asians with low levels of serum cholesterol. The objectives of this ...
A 2.6-year-old boy presented with prominent corneal arcus. This clinical sign is rarely seen at such a young age and led to the diagnosis of familial hypercholesterolemia (FH). Genetic analysis detect...
The main objective of SAFIR is to identify the atherosclerotic genetic factors in these patients, which will identify new therapeutic targets for the treatment of CV and Familial Hyperchol...
OBJECTIVES: I. Develop an approach for treating patients with homozygous familial hypercholesterolemia using gene therapy with autologous hepatocytes transduced with a normal low-density...
Patients with familial hypercholesterolemia (FH) at high cardiovascular risk may suffer from silent micro-infarctions (MI) before clinical coronary heart disease manifestations because of ...
The purpose of this study is to validate the use of an algorithm as a clinical decision support tool for identifying potential cases of familial hypercholesterolemia (FH) from electronic h...
Familial hypercholesterolemia (FH) is a common inherited disorder with a frequency of 1 in 500 in the UK. Our aim is compare the carotid and coronary artery atherosclerosis in monogenic FH...
An allylamine derivative that binds BILE ACIDS in the intestine and is used as an ANTICHOLESTEREMIC AGENT in the treatment of HYPERCHOLESTEROLEMIA and HYPERLIPIDEMIAS.
A pharmaceutical preparation of ezetimibe and simvastatin that is used in the treatment of HYPERCHOLESTEROLEMIA and HYPERLIPIDEMIAS.
Non-optimal interval of time between onset of symptoms, identification, and initiation of treatment.
High molecular weight polysaccharides present in the cell walls of all plants. Pectins cement cell walls together. They are used as emulsifiers and stabilizers in the food industry. They have been tried for a variety of therapeutic uses including as antidiarrheals, where they are now generally considered ineffective, and in the treatment of hypercholesterolemia.
The ethical and/or legal obligation of a health provider or researcher to communicate with a former patient or research subject about advances in research relevant to a treatment or to a genetic or other diagnostic test provided earlier, or about proposed new uses of blood or tissue samples taken in the past for another purpose.
Cardiovascular disease (CVD)
Acute Coronary Syndromes (ACS) Blood Cardiovascular Dialysis Hypertension Stent Stroke Vascular Cardiovascular disease (CVD) includes all the diseases of the heart and circulation including coronary heart disease (angina...
An antibody is a protein produced by the body's immune system when it detects harmful substances, called antigens. Examples of antigens include microorganisms (such as bacteria, fungi, parasites, and viruses) and chemicals. Antibodies may be produc...