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

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 ?
It also reviews key players involved in the therapeutic development for Familial Hypercholesterolemia (Type II Hyperlipoproteinemia).
SAR236553/REGN727 has been studied in three Phase 2 clinical studies: two in patients with primary hypercholesterolemia and one in patients with heterozygous familial hypercholesterolemia (heFH).
Genetic polymorphisms affecting the phenotypic expression of familial hypercholesterolemia.
A randomized, double-blind, placebo-controlled trial of the safety and efficacy of a monoclonal antibody to PCSK9, REGN727/SAR236553, in heterozygous familial hypercholesterolemia patients on a stable statin dose with or without ezetimibe therapy.
Familial hypercholesterolemia and response to statin therapy according to LDLR genetic background.
When and if human gene therapy for this disease becomes reality--a prospect some scientists envision within the next decade -- it would benefit only those individuals whose high cholesterol results from familial hypercholesterolemia.
Relation of serum lipoprotein(a) concentration and apolipoprotein(a) phenotype to coronary heart disease in patients with familial hypercholesterolemia.
KYNAMRO(TM) is a first-in-class Apo B synthesis inhibitor currently in late-stage development for patients with homozygous familial hypercholesterolemia (HoFH) and severe heterozygous familial hypercholesterolemia (Severe HeFH) to further reduce LDL cholesterol (LDL-C) in patients already maintaining a stable regimen of maximally tolerated lipid-lowering therapies.
there are approximately 11 million people with atherosclerotic cardiovascular disease (ASCVD) and/or familial hypercholesterolemia (FH), who have uncontrolled levels of LDL-C over 70 mg/dL, despite treatment with statins or other cholesterol-lowering therapies.
In 1999, a National Register of Spanish persons with a diagnosis of FH was established by the Spanish Familial Hypercholesterolemia Foundation (14).
Food and Drug Administration (FDA) seeking approval for KYNAMRO[TM] (mipomersen sodium) for the treatment of patients with homozygous familial hypercholesterolemia (HoFH).
REPATHA(TM) is indicated as an adjunct to diet and maximally tolerated statin therapy for adult patients with heterozygous familial hypercholesterolemia or clinical atherosclerotic cardiovascular disease.

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