hypercholesterolemia$36671$ - meaning and definition. What is hypercholesterolemia$36671$
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What (who) is hypercholesterolemia$36671$ - definition

FAMILIAL HYPERLIPIDEMIA CHARACTERIZED BY VERY HIGH LEVELS OF LOW-DENSITY LIPOPROTEIN (LDL) AND EARLY CARDIOVASCULAR DISEASE
Familial hypercholesterolaemia; Hypercholesterolemia, familial; Congenital hypercholesterolemia
  • Cholesterol is synthesized in the [[HMG-CoA reductase pathway]].
  • LDLR pathway
  • Schematic representation of the LDL receptor protein.

Familial hypercholesterolemia         
Familial hypercholesterolemia (FH) is a genetic disorder characterized by high cholesterol levels, specifically very high levels of low-density lipoprotein (LDL cholesterol), in the blood and early cardiovascular disease. The most common mutations diminish the number of functional LDL receptors in the liver.
Hypercholesterolemia         
HIGH LEVELS OF CHOLESTEROL IN THE BLOOD
Hypercholesterolaemia; High cholesterol; Elevated serum cholesterol; High blood cholesterol; High Blood Cholesterol; High Cholesterol; Hypercholestrolaemia; Polygenic hypercholesterolemia; Polygenic hypercholesterolaemia; High cholesterol levels; Management of high cholesterol; Increased cholesterol; Increased cholesterol level; Increased cholesterol levels; Increased cholesterol concentration; Increased cholesterol concentrations; Increased blood cholesterol; Increased serum cholesterol; Increased plasma cholesterol; Cholesterol increased; Cholesterol, increased; Elevated cholesterol; Elevated cholesterol level; Elevated cholesterol levels; Elevated cholesterol concentration; Elevated cholesterol concentrations; Elevated blood cholesterol; Elevated plasma cholesterol; Cholesterol elevated; Cholesterol, elevated; High cholesterol level; Excess cholesterol; Excess blood cholesterol; Excess serum cholesterol; Excess plasma cholesterol
Hypercholesterolemia, also called high cholesterol, is the presence of high levels of cholesterol in the blood. It is a form of hyperlipidemia (high levels of lipids in the blood), hyperlipoproteinemia (high levels of lipoproteins in the blood), and dyslipidemia (any abnormalities of lipid and lipoprotein levels in the blood).
hypercholesterolaemia         
HIGH LEVELS OF CHOLESTEROL IN THE BLOOD
Hypercholesterolaemia; High cholesterol; Elevated serum cholesterol; High blood cholesterol; High Blood Cholesterol; High Cholesterol; Hypercholestrolaemia; Polygenic hypercholesterolemia; Polygenic hypercholesterolaemia; High cholesterol levels; Management of high cholesterol; Increased cholesterol; Increased cholesterol level; Increased cholesterol levels; Increased cholesterol concentration; Increased cholesterol concentrations; Increased blood cholesterol; Increased serum cholesterol; Increased plasma cholesterol; Cholesterol increased; Cholesterol, increased; Elevated cholesterol; Elevated cholesterol level; Elevated cholesterol levels; Elevated cholesterol concentration; Elevated cholesterol concentrations; Elevated blood cholesterol; Elevated plasma cholesterol; Cholesterol elevated; Cholesterol, elevated; High cholesterol level; Excess cholesterol; Excess blood cholesterol; Excess serum cholesterol; Excess plasma cholesterol
[?h??p?k??l?st?r?'li:m??]
(US hypercholesterolemia)
¦ noun Medicine an excess of cholesterol in the bloodstream.

Wikipedia

Familial hypercholesterolemia

Familial hypercholesterolemia (FH) is a genetic disorder characterized by high cholesterol levels, specifically very high levels of low-density lipoprotein cholesterol (LDL cholesterol), in the blood and early cardiovascular diseases. The most common mutations diminish the number of functional LDL receptors in the liver or produce abnormal LDL receptors that never go to the cell surface to function properly (abnormal trafficking). Since the underlying body biochemistry is slightly different in individuals with FH, their high cholesterol levels are less responsive to the kinds of cholesterol control methods which are usually more effective in people without FH (such as dietary modification and statin tablets). Nevertheless, treatment (including higher statin doses) is usually effective.

FH is classified as a type 2 familial dyslipidemia. There are five types of familial dyslipidemia (not including subtypes), and each are classified from both the altered lipid profile and by the genetic abnormality. For example, high LDL (often due to LDL receptor defect) is type 2. Others include defects in chylomicron metabolism, triglyceride metabolism, and metabolism of other cholesterol-containing particles, such as VLDL and IDL.

About 1 in 100 to 200 people have mutations in the LDLR gene that encodes the LDL receptor protein, which normally removes LDL from the circulation, or apolipoprotein B (ApoB), which is the part of LDL that binds with the receptor; mutations in other genes are rare but important to know includes gain of function mutation in PCSK9, the molecular scissor of LDL receptors resulted in less LDLR available. The medication that blocks PCSK9 enzyme is very effective in lowering blood level of LDL-Cholesterol People who have one abnormal copy (are heterozygous) of the LDLR gene may develop cardiovascular disease prematurely at the age of 30 to 40. Having two abnormal copies (being homozygous) may cause severe cardiovascular disease in childhood. Heterozygous FH is a common genetic disorder, inherited in an autosomal dominant pattern, occurring in 1:250 people in most countries; homozygous FH is much rarer, occurring in 1 in 300,000 people.

Heterozygous FH is normally treated with statins, bile acid sequestrants, or other lipid-lowering agents that lower cholesterol levels. New cases are generally offered genetic counseling. Homozygous FH often does not respond to medical therapy and may require other treatments, including LDL apheresis (removal of LDL in a method similar to dialysis) and occasionally liver transplantation.