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).
Miller-Keane Encyclopedia and Dictionary of Medicine, Nursing, and Allied Health, Seventh Edition. © 2003 by Saunders, an imprint of Elsevier, Inc. All rights reserved.

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.
Farlex Partner Medical Dictionary © Farlex 2012

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
McGraw-Hill Concise Dictionary of Modern Medicine. © 2002 by The McGraw-Hill Companies, Inc.

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.
Medical Dictionary for the Health Professions and Nursing © Farlex 2012
References in periodicals archive ?
Defining severe familial hypercholesterolaemia and the implications for clinical management: a consensus statement from the International Atherosclerosis Society Severe Familial Hypercholesterolemia Panel.
Cuchel M, Bruckert E, Ginsberg HN, Raal FJ, Santos RD, Hegele RA, et al; European Atherosclerosis Society Consensus Panel on Familial Hypercholesterolaemia. Homozygous familial hypercholesterolaemia: new insights and guidance for clinicians to improve detection and clinical management.
Definite Familial Hypercholesterolaemia is defined as
Wald, "Child-parent screening for familial hypercholesterolaemia: screening strategy based on a meta-analysis," British Medical Journal, vol.
A small proportion of patients may have heterozygous (HeFH) or homozygous familial hypercholesterolaemia (HoFH), and are unable to achieve optimal LDL-C goals with statin monotherapy.3,4
Diagnosis and treatment of familial hypercholesterolaemia. Eur Heart J 2013;34:962-71.
Polygenic familial hypercholesterolaemia: does it matter?
One of the issues associated the hyperlipidaemia is that it is a silent disease and although there are certain characteristics such as xanthelasma palpebrarum, which are yellowish patches consisting of cholesterol deposits above the eyelid more commonly observed with familial hypercholesterolaemia, it is only detectable with clinical investigation.
The new research shows PCSK9 may reduce LDL cholesterol levels 50 to 70 percent in patients not on statins, those on both high- and low-dose statins, and in populations of patients who can't achieve aggressive goals due to statin intolerance or the genetic disorder heterozygous familial hypercholesterolaemia, according to Michael Rocco, MD, Medical Director of Cardiac Rehabilitation and Stress Testing and staff cardiologist I at Cleveland Clinic.
About one in 500 people worldwide have an inherited condition of extremely high cholesterol, called familial hypercholesterolaemia (FH).
Comparison of the risk of fatal coronary heart disease in treated xanthomatous and nonxanthomatous heterozygous familial hypercholesterolaemia: a prospective registry study.

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