familial hypercholesterolemia

familial hypercholesterolemia
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, atherosclerosis, and an increased risk of heart attack and coronary heart disease, and that is inherited as an autosomal dominant trait

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an inherited disorder of lipoprotein metabolism resulting from defects in the cellular receptor for plasma low-density lipoprotein (LDL), inherited as an autosomal dominant trait with gene dosage effect. Defects in the receptor are caused by mutation in the LDLR gene (locus: p13.2); over 1000 different mutations have been described. It is characterized by cutaneous and tendinous xanthomas, corneal arcus, and premature coronary atherosclerosis. The biochemical phenotype, elevated plasma LDL and cholesterol, is that of a type II-a hyperlipoproteinemia; rarely, plasma very-low-density lipoproteins and triglycerides may also be elevated, a type II-b phenotype. See table at hyperlipoproteinemia.

Medical dictionary. 2011.

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  • 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 — Pathol. 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. * * * ▪ medical disorder  an inherited metabolic disease that is …   Universalium

  • 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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