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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 three hundred thousand people in Britain are suffering from familial hypercholesterolaemia (FH) and familial combined hyperlipidaemia (FCH).

What are the symptoms? View What are the symptoms?

Medical text written November 1991 by Contact a Family. Approved November 1991 by Professor M Patton, Professor of Medical Genetics, St Georges Hospital Medical School, London, UK and Dr J E Wraith, Consultant Paediatrician, Royal Manchester Children's Hospital, Manchester, UK. Last updated May 2006 by Dr M Sharrard, Consultant Paediatrician with Special Interest in Metabolic disease, Sheffield Children's Hospital, Sheffield, UK and Dr T Gray, Consultant in Chemical Pathology, Northern General Hospital, Sheffield, UK.

 

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