Diagnosis in Children

FH is a disorder of high LDL (bad, “Lousy") cholesterol that is passed down through families, which means it is inherited. The condition begins at birth and can cause heart attacks at an early age.

The testing and diagnosis of children suspected of having FH from a diagnosed FH Parent is most important although opinion varies from country to country as to when a test should be performed.

An expert panel from the National Lipid Association (USA) recommends universal screening for elevated cholesterol by 20 years of age and that FH should be suspected in adults >20 years if they have LDL cholesterol >406 mg/dL 10.5 mmol/L or non-HDL cholesterol >12.2 mmol/L (472 mg/dL). All children aged nine to 11 years should also be screened, with FH suspected in those with LDL cholesterol >4 mmol/L (160 mg/dL) and highly likely in those with LDL cholesterol >5 mmol/L (190 mg/dL). Experts say even children as young as two years should be screened for FH, but only if there is a family history of premature cardiovascular disease or very high cholesterol levels suggesting FH in a parent.

Read what a member of the Panel says about the importance of early age recognition of FH Dr Sam Gidding.

In a more serious form, the defective FH gene may be handed down from both parents, or from one FH parent and one compound heterozygous parent. Cholesterol levels may be > 13 mmol/L (500 mg/dl).  When this happens a child will have almost always a 25% chance of acquiring the more serious form of FH - homozygous, which should really be diagnosed at the earliest possible age, simply by following relevant guidelines and immediately referred to a lipid specialist and given the highest priority for treatment. The incident rate of both homozygous and compound heterozygous FH is about one in 500,000 of the population.