familial hypercholesterolemia


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Noun1.familial hypercholesterolemia - congenital disorder characterized by high levels of cholesterol and early development of atherosclerosis
monogenic disease, monogenic disorder - an inherited disease controlled by a single pair of genes
hypercholesteremia, hypercholesterolemia - the presence of an abnormal amount of cholesterol in the cells and plasma of the blood; associated with the risk of atherosclerosis
References in periodicals archive ?
LDLR gene mutations are known to cause hypercholesterolemia thus leading to premature coronary artery disease.5 Familial hypercholesterolemia (FH) is the most frequent form of autoimmune dominant hypercholesterolemia (ADH) and is due to mutations within the gene encoding the LDL specific receptor.6 Mutations involving a small number of nucleotides, from point mutations to small deletions or insertions, account for 90% of all mutations in the LDLR gene.7 The study has the potential of early identification of high risk cases of premature coronary artery disease, which leads to timely institution/intervention of both preventive and therapeutic management strategies.
(NASDAQ: REGN) today announced positive pivotal Phase 3 results for evinacumab, an investigational angiopoietin-like 3 (ANGPTL3) antibody, in patients with homozygous familial hypercholesterolemia (HoFH).
Regeneron announced positive pivotal Phase 3 results for evinacumab, an investigational angiopoietin-like 3 antibody, in patients with homozygous familial hypercholesterolemia. Patients with HoFH have severely elevated levels of bad cholesterol, and often experience early atherosclerotic disease, sometimes suffering cardiac events as early as their teenage years.
It is indicated as an adjunct to diet for the treatment of adult patients with hypertriglyceridemia, as an adjunct to diet for the treatment of adult patients with primary dysbetalipoproteinemia (type III hyperlipoproteinemia), and as an adjunct to other lipid-lowering treatments (eg, LDL apheresis) or as monotherapy if such treatments are unavailable, to decrease LDL-C, total cholesterol, and ApoB in adult patients with homozygous familial hypercholesterolemia. The product has not been studied in Fredrickson type I and V dyslipidemias.
The approval for the supplemental indication will make it possible for Repatha[R] to be used alone in familial hypercholesterolemia or hypercholesterolemia patients for whom statin therapy is not suitable, due to a history of side effects or contraindication.
The researchers have found that blood donation programs give an opportunity to public health portals to screen for diseases such as familial hypercholesterolemia (FH).
Emma is just 39, but due to having familial hypercholesterolemia, she is at a constant risk of having a stroke or developing heart disease.
Due to having familial hypercholesterolemia, Emma is at a constant risk of having a stroke or developing heart disease.
14, 2018 (HealthDay News) -- Genetic testing should become the standard of care for patients with definite or probable familial hypercholesterolemia (FH), according to a statement published in the Aug.
Currently, the US FDA has approved an update to the Praluent Prescribing Information to include clinical information regarding its use in patients with heterozygous familial hypercholesterolemia (HeFH) who require additional lowering of LDL-C along with diet and maximally-tolerated statin therapy and who are undergoing apheresis treatment, where LDL-C is removed from the blood.
The court while hearing suo moto notice pertaining to children suffering from familial hypercholesterolemia (FH) disease ordered Drug Regulatory Authority of Pakistan (DRAP) to register medicine of this disease.

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