Familial Hypercholesterolaemia (FH) is the medical name for a specific inherited condition that affects around 1 in 500 people.‘Familial’ means that it is inherited through families. ‘Hypercholesterolaemia’ is the medical term for high blood cholesterol - ‘hyper’ means raised and ‘aemia’ means in the blood.
Medical basis for FH
FH is caused by increased Low Density Lipoprotein Cholesterol (LDL-C) or ‘bad’ cholesterol in the blood. In most people, LDL-C is safely removed from the blood by “receptors” which bind to it and take it out of the bloodstream. However, people with FH have fewer of these “receptors” and this leads to higher levels of LDL-C in the blood. The level of cholesterol in the blood for people with FH is about twice as high as normal.
If people with FH are untreated, they are at a greatly increased risk (about 8 times) of early coronary heart disease (CHD). Cholesterol can be laid down in the coronary arteries of the heart causing angina or heart attacks. Other factors that increase the risk of CHD are smoking and high blood pressure. However, FH is a very treatable condition which can be controlled with the use of cholesterol-lowering drugs combined with a healthy lifestyle.
It is now known that people with FH who are treated can expect to have a life expectancy which is the same as the general population. Therefore it is vitally important to diagnose the condition early, so that the right treatment can be started and heart attacks prevented.
All this information and more is available in our FH Patient Information leaflet .