Definitions for familial hypercholesterolemia
fa·mil·ial hy·per·c·holes·terolemi·a

Princeton's WordNetRate this definition:0.0 / 0 votes

1. familial hypercholesterolemianoun

   congenital disorder characterized by high levels of cholesterol and early development of atherosclerosis

WikipediaRate this definition:0.0 / 0 votes

1. 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. 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. 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.

ChatGPTRate this definition:0.0 / 0 votes

1. familial hypercholesterolemia

   Familial hypercholesterolemia is a genetic disorder characterized by high cholesterol levels, specifically very high levels of low-density lipoprotein (LDL), in the blood. This can lead to early-onset cardiovascular disease. It is typically inherited from one or both parents who carry the mutated gene that causes the condition. Because it's a genetic condition, it's present from birth and can affect children as well as adults. Treatment often includes medications, a healthy diet, and regular exercise.

WikidataRate this definition:0.0 / 0 votes

1. Familial hypercholesterolemia

   Familial hypercholesterolemia is a genetic disorder characterized by high cholesterol levels, specifically very high levels of low-density lipoprotein, in the blood and early cardiovascular disease. Many patients have mutations in the LDLR gene that encodes the LDL receptor protein, which normally removes LDL from the circulation, or apolipoprotein B, which is the part of LDL that binds with the receptor; mutations in other genes are rare. Patients who have one abnormal copy of the LDLR gene may have premature cardiovascular disease at the age of 30 to 40. Having two abnormal copies may cause severe cardiovascular disease in childhood. Heterozygous FH is a common genetic disorder, inherited in an autosomal dominant pattern, occurring in 1:500 people in most countries; homozygous FH is much rarer, occurring in 1 in a million births. Heterozygous FH is normally treated with statins, bile acid sequestrants or other hypolipidemic 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 and occasionally liver transplantation.

Matched Categories

1. • Hypercholesterolemia
   • Monogenic Disorder

How to pronounce familial hypercholesterolemia?

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Numerology

1. Chaldean Numerology

   The numerical value of familial hypercholesterolemia in Chaldean Numerology is: 2

2. Pythagorean Numerology

   The numerical value of familial hypercholesterolemia in Pythagorean Numerology is: 7

References

1. ^ Princeton's WordNet
   http://wordnetweb.princeton.edu/perl/webwn?s=familial hypercholesterolemia
2. ^ Wikipedia
   https://en.wikipedia.org/wiki/Familial_Hypercholesterolemia
3. ^ ChatGPT
   https://chat.openai.com
4. ^ Wikidata
   https://www.wikidata.org/w/index.php?search=familial hypercholesterolemia