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Hypercholesterolaemia - familial - Management
How do I confirm a diagnosis in children and young people?

  • Use the Simon Broome criteria for children (which differ from the criteria for adults in terms of the lipid concentrations) to make a diagnosis of familial hypercholesterolaemia (FH) in children and young people (up to 15 years of age):
    • Diagnose definite FH in a child or young person with:
      • Total cholesterol greater than 6.7 mmol/L, low-density lipoprotein cholesterol (LDL-C) greater than 4.0 mmol/L, and tendon xanthomata (or evidence of tendon xanthomata in a first- or second-degree relative), or
      • An identified genetic mutation for FH.
    • Diagnose possible FH in a child or young person with total cholesterol greater than 6.7 mmol/L, LDL-C greater than 4.0 mmol/L, and at least one of the following:
      • Family history of myocardial infarction: before 60 years of age in a first-degree relative, or before 50 years of age in a second-degree relative.
      • Family history of raised total cholesterol: greater than 7.5 mmol/L in an adult first- or second-degree relative or greater than 6.7 mmol/L in a child, brother, or sister younger than 16 years.
  • Consider a clinical diagnosis of homozygous FH in children and young people with LDL-C greater than 11 mmol/L.
  • Refer to a specialist for confirmation of the diagnosis.
    • Ideally, referral will be to a specialist with particular expertise in FH in children and young people. If unavailable locally, refer to a specialist with expertise in FH (usually at a lipid or metabolic clinic).
    • Diagnosis should be made by 10 years of age or at the earliest opportunity thereafter.

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