familial hypercholesterolemia

an inherited metabolic disorder caused by a lack or malfunction of receptors for the low-density lipoproteins that activate removal of cholesterol from the blood. Abbr.: FH.

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▪ medical disorder
 an inherited metabolic disease that is caused by deficiency of the LDL (low-density lipoprotein) receptor on the surface of cells (cell) in the liver and other organs. As a result, LDL cholesterol is not moved into the cells and thus remains in the blood, eventually accumulating in deposits on the walls of arteries (artery) ( atherosclerosis) and leading to cardiovascular disease or heart attack. Furthermore, under normal conditions, when enough cholesterol is present in a cell, feedback mechanisms signal enzymes (enzyme) to cease cholesterol synthesis. However, in familial hypercholesterolemia, these enzymes are relieved of feedback inhibition, thus inducing the production of excessive amounts of cholesterol. Symptoms of the disease include early coronary heart disease and angina pectoris (chest pain), atherosclerosis, and fatty deposits on the eyelids (eyelid) (xanthelasmas), the skin and tendons (tendon) (xanthomas), and around the cornea of the eye (eye, human) (corneal arcus).

 Diagnosis is based on blood cholesterol levels, which are very high from birth in people with familial hypercholesterolemia; abnormally high LDL cholesterol levels are a common finding. Physical examination and heart function testing as well as family history and genetic testing can be used to make a definitive diagnosis. Familial hypercholesterolemia results from mutation of the LDLR (low-density lipoprotein receptor) gene. There are numerous different mutations in LDLR that can give rise to disease, including some that result in receptor dysfunction and others that result in decreased receptor production by cells. Familial hypercholesterolemia is autosomal dominant, meaning the inheritance of a single copy of the mutant gene from one parent is sufficient to cause disease. This form of inheritance results in a heterozygous genotype and is associated with the appearance of severe symptoms in the fourth or fifth decade of life. However, if a person with familial hypercholesterolemia is homozygous for the condition (inherits two copies of the mutant gene), severe vascular disease starts in early childhood, and heart attacks are usual by the age of 20.

      Treatment includes a low-fat diet, routine exercise, and drug therapy. Statins (statin), which inhibit an enzyme required for cholesterol synthesis, tend to be effective for reducing cholesterol levels. Other agents that may be used to lower cholesterol include fibrates, nicotinic acid, and bile acid sequestrants (resins).

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Universalium. 2010.

Look at other dictionaries:

  • Familial hypercholesterolemia — Classification and external resources Xanthelasma palpebrarum, yellowish patches consisting of cholesterol deposits above the eyelids. These are more common in people with FH. ICD …   Wikipedia

  • familial hypercholesterolemia — familial hypercholesterolemia. См. семейная гиперхолестеринемия. (Источник: «Англо русский толковый словарь генетических терминов». Арефьев В.А., Лисовенко Л.А., Москва: Изд во ВНИРО, 1995 г.) …   Молекулярная биология и генетика. Толковый словарь.

  • familial hypercholesterolemia — n a metabolic disorder that is caused by defective or absent receptors for LDLs on cell surfaces, that is marked by an increase in blood plasma LDLs and by an accumulation of LDLs in the body (as in connective tissue) resulting in xanthomas,… …   Medical dictionary

  • familial hypercholesterolemia — noun congenital disorder characterized by high levels of cholesterol and early development of atherosclerosis • Hypernyms: ↑hypercholesterolemia, ↑hypercholesteremia, ↑monogenic disorder, ↑monogenic disease * * * noun : a metabolic disorder that… …   Useful english dictionary

  • familial hypercholesterolemia — noun Date: 1966 an inherited metabolic disorder marked by excess accumulation of LDL cholesterol in the blood resulting especially in atherosclerosis and irregular yellow skin lesions …   New Collegiate Dictionary

  • familial hypercholesterolemia — Excess of cholesterol in plasma as a result of defects in the recycling process that leads to reduced uptake of LDL (low density lipoprotein) into coated vesicles …   Dictionary of molecular biology

  • familial hyperbetalipoproteinemia — familial hypercholesterolemia …   Medical dictionary

  • Hypercholesterolemia — High blood cholesterol. This can be sporadic (with no family history) or familial. Familial hypercholesterolemia is the most common inherited type of hyperlipidemia (high lipid levels in blood). It predisposes to premature arteriosclerosis… …   Medical dictionary

  • Hypercholesterolemia — DiseaseDisorder infobox Name = Hypercholesterolemia Caption = Cholesterol ICD10 = ICD10|E|78|0|e|70 ICD9 = ICD9|272.0 ICDO = OMIM = DiseasesDB = 6226 MedlinePlus = eMedicineSubj = med eMedicineTopic = 1073 MeshID = D006937 Hypercholesterolemia… …   Wikipedia

  • hypercholesterolemia — /huy peuhr keuh les teuhr euh lee mee euh/, n. Pathol. 1. the presence of an excessive amount of cholesterol in the blood. 2. See familial hypercholesterolemia. Also, hypercholesteremia /huy peuhr keuh les teuh ree mee euh/. [1890 95; < NL; see… …   Universalium

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