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Familial hypercholesterolemia

Genetics can influence the level of lipids and cholesterol in our blood, regardless of lifestyle or diet. Presentation of hypercholesterolemia or hyperlipidemia can be with fatty deposits above the eyes (xantomata), in the tendons (xanthoma) and a white arc around the iris of the eye (arcus senilis). Most times it presents as chest pain, or angina, due to coronary artery disease. Severe forms of familial hypercholesterolemia can start early, in childhood, and cause heart attacks in young adults. Hyperlipidemia due to raised triglycerides can present similarly to hypercholesterolemia, as well as producing pancreatitis and blindness from retinal vein obstruction of the eye. Those people with concurrent insulin insensitivity or diabetes are more at risk of cardiovascular complications and should be on active treatment with a lipid lowering agent, e.g a statin. Medication plus exercise and a healthy, low fat diet should assist in decreasing risk of an early heart attack or stroke. If triglyceride and cholesterol levels are still difficult to control, combination therapy of a statin (simvastatin) and a statin booster (ezetimibe), or Inergy, can be prescribed.

Source: summary of medical news story as reported by Times Online

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About: Familial hypercholesterolemia

Date: 30 June 2005

Source: Times Online

Author: Dr Thomas Stuttaford


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