Table 2.

Diagnosis of familial hypercholesterolaemia in children and adolescents

Family history of premature CHD plus high LDL-C) levels are the two key selective screening criteria: (F + H = FH).a Cholesterol testing should be used to make a phenotypic diagnosis. An LDL-C level ≥5 mmol/L (190 mg/dL) on two successive occasions after 3 months diet indicates a high probability of FH. A family history of premature CHD in close relative(s) and/or baseline high cholesterol in one parent, together with an LDL-C ≥4 mmol/L (160 mg/dL) indicates a high probability of FH. If the parent has a genetic diagnosis, an LDL-C ≥3.5 mmol/L (130 mg/dL) suggests FH in the child. Secondary causes of hypercholesterolaemia should be ruled out. DNA testing establishes the diagnosis. If a pathogenic LDLR mutation is identified in a first-degree relative, children may also be genetically tested. If a parent died from CHD, a child even with moderate hypercholesterolaemia should be tested genetically for FH and inherited elevation in Lp(a).

^aAcknowledgement to the FH Foundation (http://thefhfoundation.org/).