Familial Hypercholesterolemia

Abu Sayed Munsi1, Md. Jahangir Alam2, Abu Sayeed3, Manzoor Hussain4


High cholesterol concentration in the blood is caused
by an inherited genetic defect known as familial
hypercholesterolaemia (FH). Familial hypercholesterolemia
is a single gene disorder. It is a rare
defect of lipid metabolism characterized by markedly
elevated level of serum cholesterol with normal
triglyceride. There is mutation in the LDLR gene
located on chromosome191-3 and is associated with
elevated plasma low density lipoprotein cholesterol
in blood.4 Familial hypercholesterolemia is of 2 types,
heterozygous FH and homozygous FH. A raised
cholesterol concentration in the blood is present from
birth and may lead to early development of
atherosclerosis and coronary heart disease.


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