Familial Hypercholesterolemia definition
Familial hypercholesterolemia: The most common inherited type of hyperlipidemia (high lipid levels in the blood). Familial hypercholesterolemia is recognizable in childhood and is due to genetic defects in the receptor (target) for low-density lipoprotein (LDL).The most common autosomal dominant form of hypercholesterolemia is caused by mutation in the LDL receptor gene (LDLR) on chromosome 19.There are also a number of other less frequent forms of this disorder.Familial hypercholesterolemia predisposes a person to premature arteriosclerosis, including coronary artery disease, and can lead to heart attacks at an unusually young age.he most common autosomal dominant form of hypercholesterolemia is caused by mutation in the LDL receptor gene (LDLR) on chromosome 19. There are also a number of other less frequent forms of this disorder. Definition of FAMILIAL HYPERCHOLESTEROLEMIA. : an inherited metabolic disorder marked by excess accumulation of LDL cholesterol in the blood resulting especially in atherosclerosis and irregular yellow skin lesions.ADVERTISEMENT.noun. an inherited metabolic disorder marked by excess accumulation of LDL cholesterol in the blood resulting especially in atherosclerosis and irregular yellow skin lesions. ADVERTISEMENT. This can be sporadic (occurring with no family history) or familial. Hypercholesterolemia is one form of hyperlipidemia. Familial hypercholesterolemia is the most common inherited type of hyperlipidemia (high fat or lipid levels in blood).It predisposes to premature arteriosclerosis including coronary artery disease with heart attacks at an unusually young age.About half of men and a third of women suffer a heart attack by age 60.his can be sporadic (occurring with no family history) or familial. Hypercholesterolemia is one form of hyperlipidemia. Familial hypercholesterolemia is the most common inherited type of hyperlipidemia (high fat or lipid levels in blood). Noun. 1. familial hypercholesterolemia-congenital disorder characterized by high levels of cholesterol and early development of atherosclerosis. monogenic disease, monogenic disorder-an inherited disease controlled by a single pair of genes.. familial hypercholesterolemia-congenital disorder characterized by high levels of cholesterol and early development of atherosclerosis. monogenic disease, monogenic disorder-an inherited disease controlled by a single pair of genes. Medical Definition of HYPERCHOLESTEROLEMIA. : the presence of excess cholesterol in the blood—see familial hypercholesterolemia.— hy·per·cho·les·ter·ol·emic \-tə-rə-ˈlē-mik\ or hy·per·cho·les-ter·emic \-tə-ˈrē-mik\ or chiefly British hy·per·cho·les·ter·ol·ae·mic or hy·per·cho·les·ter·ae·mic adjective.efinition of HYPERCHOLESTEROLEMIA. : the presence of excess cholesterol in the blood. — hy·per·cho·les·ter·ol·emic \-mik\ adjective. ADVERTISEMENT. Hypercholesterolemia (also spelled hypercholesterolaemia also called dyslipidemia) is the presence of high levels of cholesterol in the blood.It is a form of  hyperlipidemia  (elevated levels of lipids in the blood) and hyperlipoproteinemia (elevated levels of lipoproteins in the blood).ypercholesterolemia (also spelled hypercholesterolaemia also called dyslipidemia) is the presence of high levels of cholesterol in the blood. Noun. 1. familial hypercholesterolemia-congenital disorder characterized by high levels of cholesterol and early development of atherosclerosis. monogenic disease, monogenic disorder-an inherited disease controlled by a single pair of genes.amilial hypercholesterolemia-congenital disorder characterized by high levels of cholesterol and early development of atherosclerosis. 1. An abnormally high concentration of cholesterol in the blood. 2. A familial disorder that is characterized by an abnormally high concentration of cholesterol in the blood. Also called familial hypercholesterolemia.. An abnormally high concentration of cholesterol in the blood. 2. A familial disorder that is characterized by an abnormally high concentration of cholesterol in the blood. Also called familial hypercholesterolemia. Definition of HYPERCHOLESTEROLEMIA. : the presence of excess cholesterol in the blood.— hy·per·cho·les·ter·ol·emic \-mik\ adjective. ADVERTISEMENT.efinition of HYPERCHOLESTEROLEMIA. : the presence of excess cholesterol in the blood. — hy·per·cho·les·ter·ol·emic \-mik\ adjective. ADVERTISEMENT. Inherited forms of hypercholesterolemia, which cause even higher levels of cholesterol, occur less frequently. The most common inherited form of high cholesterol is called familial hypercholesterolemia. This condition affects about 1 in 500 people in most countries.Familial hypercholesterolemia occurs more frequently in certain populations, including Afrikaners in South Africa, French Canadians, Lebanese, and Finns.eople with hypercholesterolemia have a high risk of developing a form of heart disease called coronary artery disease. This condition occurs when excess cholesterol in the bloodstream is deposited in the walls of blood vessels, particularly in the arteries that supply blood to the heart (coronary arteries).
An inherited metabolic disorder marked by excess accumulation of LDL cholesterol in the blood resulting especially in atherosclerosis and irregular yellow skin lesions.