familial hypercholesterolemia

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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 ?
National Clinical Audit of the Management of Familial Hypercholesterolaemia 2010: Full Report.
PCSK9 inhibition with evolocumab (AMG 145) in heterozygous familial hypercholesterolaemia (RUTHERFORD-2): a randomised, double-blind, placebo-controlled trial.
Apo-B antisense oligonucleotides and MTP-inhibitors are being tested in patients with homozygous familial hypercholesterolaemia.
Familial hypercholesterolaemia affects about one in every 500 people, who have a high risk of dying from coronary heart disease.
Large heterogeneity of mutations in the gene encoding the low-density lipoprotein receptor in subjects with familial hypercholesterolaemia.
HIGH blood cholesterol, which can cause heart disease, may be inherited through familial hypercholesterolaemia (FH) and familial combined hyperlipidaemia (FCH).
Sanofi UK, with the endorsement of HEART UK-The Cholesterol Charity, has today launched a new campaign to help break family cycles of early heart disease and death from Familial Hypercholesterolaemia (FH).
The Wales Familial Hypercholesterolaemia Service is a Working Seamlessly Across Organisations finalist.
It is thought the programme, which tests families for familial hypercholesterolaemia (FH), is the first of its kind in the UK.
It is estimated that up to 4,800 people may be unaware they have the potentially life-threatening familial hypercholesterolaemia (FH).

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