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Familial Hyperlipidaemias
Background
Familial hyperlipidaemias are inherited metabolic disorders which include harmful disorders resulting in an excess of cholesterol and/or triglyceride in the blood. Cholesterol is transported round the body in combination with proteins, known as lipoproteins, low density lipoproteins (LDL) and beneficial high density lipoproteins (HDL). Triglyceride travels within very low density lipoproteins (VLDL) and chylomicrons.
High levels of cholesterol in the blood may be associated with heart disease and strokes. The most common inherited cause is familial hypercholesterolaemia. High levels of triglycerides without raised cholesterol may be caused by the inherited disorders lipoprotein lipase deficiency and apoC-II deficiency, and can cause the serious condition of acute pancreatitis.
It is believed that approximately 300,000 people in Britain are suffering from familial hypercholesterolaemia (FH) and familial combined hyperlipidaemia (FCH).