This guideline covers identifying and managing familial hypercholesterolaemia (FH), a specific type of high cholesterol that runs in the family, in children, young people and adults. It aims to help identify people at increased risk of coronary heart disease as a result of having FH.
In some people, a high cholesterol concentration in the blood is caused by an inherited genetic defect known as familial hypercholesterolaemia (FH). A raised cholesterol concentration in the blood is present from birth and may lead to early development of atherosclerotic disease like coronary heart disease. The disease shows an autosomal dominant pattern of inheritance, being transmitted from generation to generation in such a way that siblings and children of a person with FH have a 50% risk of inheriting FH.