Medical Q&As

Familial hypercholesterolaemia - what is it?

Can you tell me about familial hypercholesterolaemia? Is there a specialist who deals with this in Dublin?

Hypercholesterolaemia means that the level of cholesterol in the blood is high and familial hypercholesterolaemia means that the elevation is due to a specific genetic defect. In such cases the raised cholesterol level is present from birth and can lead to early development of atherosclerosis or hardening of the arteries. Siblings and children of an affected person have a one in two chance of also having the condition therefore it is important that family members be screened whenever the condition is diagnosed. It is estimated that approximately one in 500 people have the condition, which makes it one of the commonest inherited conditions in the Western world. Dietary management is the mainstay of treatment, which involves consuming a diet that is low in fat and cholesterol. Statins, which are cholesterol-lowering drugs, also have an important part to play in the management of the condition. Management of hypercholesterolaemia lies within the competence of the GP and should not normally require specialist referral. However, it would be very useful to see a dietician for an in-depth consultation regarding a low fat diet. You can learn more about cholesterol at our special cholesterol clinic, which can be accessed at The website of the Irish Heart Foundation ( is another source of useful information. There is a UK website devoted to the topic of familial hypercholesterolaemia, which you might also find useful and it can be contacted at: