Clinical features: Familial hypercholesterolaemia (FH) is the most common and well known of the group of conditions known as the familial hyperlipidaemias. The disorder is characterised by an increase in the level of serum cholesterol bound to low density lipoprotein (LDL). Affected heterozygotes have cholesterol deposits on the tendons of the back of the hands or Achilles tendons and these are virtually diagnostic of the condition. These deposits are also known as xanthomas. There is an increased risk of coronary heart disease at an early age. When both parents have the condition there is a 25% chance that a child will inherit a more severe life-threatening condition with the risk of coronary heart disease in childhood. This is known as homozygous FH.
Incidence: 1 in 500 heterozygous 1 in 1,000,000 homozygous FH.
Inheritance : Autosomal dominant.
Gene: FH is caused by mutations in the low density lipoprotein receptor gene (LDLR) on chromosome 19. DNA testing is not routinely undertaken as the diagnosis in affected families can usually be made at any age by measurement of the lipoprotein profile.
Presymptomatic testing: Testing should be offered to at risk families. Measurement of an individual's lipoprotein profile can identify high risk family members who can then be offered effective treatment with lipid lowering drugs.
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