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* Raised cholesterol may be asymtomatic
* Careful study of the heart disease: register may help to, identify affected families
* Patients and their relatives need education and lifestyle advice as well as treatment
Familial hypercholesterolaemia (FH) is one of the most common inherited conditions, occurring in about one in 500 people. (1) It is caused by an, abnormal gene resulting, in exceptionally high cholesterol levels, usually 8-12mmol/l but sometimes as high as 20mmol/l. (1) Triglyceride levels are generally normal, or in some cases only moderately increased. (1) The high cholesterol levels are present at birth and continue throughout life, and these patients are at high risk of early coronary heart disease (CHD).
HOW IS IT DETECTED?
Symptoms of FH
In some families, FH goes undetected until a young person has a fatal cardiac event. The problem with very high cholesterol is that you cannot usually see it and it does not make you feel ill. If it is treated you do not feel any different.
However, there are some external signs that can aid diagnosis.
High circulating levels of cholesterol can lead to deposits in the tendons on the backs of the hands and the backs of the knees and the Achilles tendon in the ankle. (1) These fatty lumps appear gradually and can cause confusion. Many FH patients report having had exploratory operations by enthusiastic orthopaedic staff.
The lumps, or xanthomata as they are called, usually cannot be removed entirely and they grow back if cholesterol-lowering treatment is not taken. (1)
Cholesterol may also be deposited in the skin around the eye or eyelid. These deposits are usually yellow and are called xanthelasma. They are sometimes unsightly. Acid can be used to burn them off, but many people are not keen on this form of treatment …