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Hypercholesterolaemia - familial - Management
How do I manage adults with confirmed heterozygous familial hypercholesterolaemia?

  • Refer all adults diagnosed with heterozygous familial hypercholesterolaemia (FH) on the basis of the Simon Broome criteria to a specialist with expertise in FH for confirmation of the diagnosis and initiation of cascade testing.
  • Adults with confirmed heterozygous FH at particularly high risk of a coronary event should also be managed by a specialist with expertise in FH. Particularly high risk is defined as any of the following:
    • Established coronary heart disease (CHD).
    • Family history of premature CHD (first-degree relative before 60 years of age, or second-degree relative before 50 years of age).
    • Two or more other cardiovascular disease risk factors (such as male gender, smoking, hypertension, or diabetes).
  • Consider a routine referral to a cardiologist for evaluation for possible CHD if either of the following are present:
    • A family history of CHD in early adulthood.
    • Two or more other cardiovascular disease risk factors (such as male gender, smoking, hypertension, or diabetes).
  • If managing an adult with confirmed heterozygous FH in primary care:
    • Do not use cardiovascular disease risk assessment tools to guide management because people with FH are already at a high risk of premature CHD.
    • Consider doing a baseline electrocardiogram (ECG).
    • Offer lifestyle advice in addition to medication.
    • Treat with cholesterol-lowering medication (see Cholesterol lowering in adults with heterozygous FH).
    • Consider treating people with FH and sustained systolic blood pressure greater than 140 mmHg and/or diastolic blood pressure greater than 90 mmHg with blood pressure lowering medication, to achieve a target blood pressure of less than 140/90 mmHg (see the CKS topic on Hypertension - not diabetic):
      • A higher threshold (160/100 mmHg) for treatment could be considered for people without other risk factors who are either 40 years of age or younger or have been treated to target with cholesterol-lowering medication since childhood.
      • A lower target blood pressure, such as less than 140/85 mmHg, is recommended by some experts.
    • Consider starting aspirin 75 mg daily in adults older than 40 years of age if there are no contraindications. See the CKS topic on Antiplatelet treatment.
      • The age to start aspirin may be brought forward or delayed, depending on whether the person has been treated to target with cholesterol-lowering medication since childhood.
      • Women may be less likely than men to benefit from aspirin.
      • Note that aspirin is not licensed for primary prevention of cardiovascular disease.
    • If in doubt about the use of blood pressure lowering medication and aspirin, seek advice from a specialist with expertise in FH.

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