familial hypercholesterolemia


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hypercholesterolemia

 [hi″per-ko-les″ter-ol-e´me-ah]
excess of cholesterol in the blood.
familial hypercholesterolemia hyperlipoproteinemia (type II).

fa·mil·i·al hy·per·lip·o·pro·te·in·e·mi·a type II

[MIM*143890 and MIM*144400]
hyperlipoproteinemia characterized by increased plasma levels of β-lipoproteins and cholesterol, elevated or normal levels of triglycerides; heterozygotes have mild lipid changes and are susceptible to atherosclerosis in middle age, but homozygotes have severe changes (often with generalized xanthomatosis, xanthelasma, corneal arcus, and frank clinical atherosclerosis as young adults). This disorder is divided into two classes, both inherited as autosomal dominant with homozygotes more severely affected than heterozygotes: type IIA, which is characterized by elevated LDL but normal triglycerides and is due to a deficiency of the LDL receptor, a defect of the receptor or a modified LDL-apolipoprotein B-100, caused by mutation in the LDL receptor (LDLR) gene on chromosome 19p. SYN familial hypercholesterolemia; type IIB has elevated LDL, cholesterol, and triglycerides, due to dysregulation of 3-hydroxy-3-methylglutaryl coenzyme A reductase (HMG-CoA reductase), the rate-controlling enzyme in cholesterol biosynthesis. SYN familial hyperbetalipoproteinemia, familial hypercholesterolemic xanthomatosis.

familial hypercholesterolemia

Metabolic disease A common–
1:500 congenital AD defect in the LDL receptor gene, resulting in dysfunctional or absent receptors Clinical Early CAD in ♂, first MI by age 40–♀ may be asymptomatic throughout life, tendinous xanthomas, corneal arcus, xanthelasma; homozygotes have LDL-C > 600 mg/dL, tuberous xanthomas and fatal CAD in adolescence Lab ↑ LDL-C–300-500 mg/dL-20% of
cholesterol in this range is due to FH Management Smoking cessation, diet, exercise, drugs–bile-acid binding resins–eg, cholestipol, cholestyramine, nicotinic acid, ↓ cholesterol and ↓ saturated fat diet, liver transplant may provide LDL receptors

type II fa·mil·i·al hy·per·lip·o·pro·tein·e·mi·a

(tīp fă-mil'ē-ăl hī'pĕr-lip'ō-prō-tēn-ē'mē-ă)
Increased hematologic lipoprotein levels characterized by increased plasma levels of β-lipoproteins, cholesterol, and phospholipids, but normal triglycerides levels. Homozygotes have xanthomatosis and frank clinical atherosclerosis as young adults. The primary defect is a deficiency of apoprotein of very-low-density lipoproteins.
Synonym(s): familial hypercholesterolemia.
References in periodicals archive ?
Missense mutation in the LDLR gene: A wide spectrum in the severity of familial hypercholesterolemia. Mutations in Human Genetic Disease: Intech; 2012.
Familial hypercholesterolemia is usually underdiagnosed and untreated in the general population.
(4.) Civeira F, International Panel on Management of Familial Hypercholesterolemia. Guidelines for the diagnosis and management of heterozygous familial hypercholesterolemia.
As can be seen in Table 2, lower levels of native thiol and higher levels of disulfide were independent of BMI, age, and gender in the logistic regression of patients with familial hypercholesterolemia. There was a statistically significant difference between the patient and control groups in terms of the median values of the parameters.
Civeira F; International Panel on Management of Familial Hypercholesterolemia. Guidelines for the diagnosis and management of heterozygous familial hypercholesterolemia.
Jacobsen, "Acquired supravalvular aortic stenosis in familial hypercholesterolemia. A hemodynamic and angiocardiographic study," The American Journal of Medicine, vol.
Familial Hypercholesterolemia (FH) occurs in an autosomal dominant manner and is characterized by substantially elevated levels of low density lipoprotein cholesterol (LDL-C).
The report provides comprehensive information on the therapeutics under development for Heterozygous familial hypercholesterolemia (heFH), complete with analysis by stage of development, drug target, mechanism of action (MoA), route of administration (RoA) and molecule type.
[9] It was approved by the US-FDA in July 2015 as a first-in-class drug, "for use in addition to diet and maximally tolerated statin therapy in adult patients with heterozygous familial hypercholesterolemia (HeFH) or patients with clinical atherosclerotic cardiovascular disease such as heart attacks or strokes, who require additional lowering of LDL cholesterol." The approval followed evaluation of the drug in five phase 3, double-blind, placebo-controlled trials that involved 2476 participants who received alirocumab.
Kynamro is indicated as an adjunct to lipid-lowering medications and diet to reduce low density lipoprotein-cholesterol (LDL-C), apolipoprotein B (apo B), total cholesterol, and non-high density lipoprotein-cholesterol (non HDL-C) in patients with homozygous familial hypercholesterolemia.
[USPRwire, Tue Feb 02 2016] GlobalData's clinical trial report, "" provides an overview of Heterozygous familial hypercholesterolemia (heFH) clinical trials scenario.
* Summarize current US clinical guidelines for the management of familial hypercholesterolemia in youth (children and adolescents) and contrast them with guidelines for adults.

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