Familial Hypercholesterolaemia
Familial hypercholesterolaemia is an inherited disorder of lipid metabolism. Lipids are circulating blood fats, and there are a number of different ones. Cholesterol, mainly synthesised in the liver from fats in our diet, is an essential part of most cell walls - particularly the cells in the central nervous system. It passes around the circulation in two forms, called high-density lipoprotein (HDL) and low-density lipoprotein (LDL). They can be thought of as good fat and bad fat, because HDL removes fatty deposits from the blood vessels, while LDL puts them back again. LDL is usually removed from the circulation by sticking on to receptors on liver cells, which then absorbs it and breaks it down. In familial hypercholesterolaemia these receptors are very much reduced in number, so the level of LDL is very high and there is rapid development of atherosclerosis.
|
