referral criteria from primary care - FH (familial hypercholesterolaemia)

Last edited 11/2018

Referral criteria:

  • diagnosis and screening:
    • healthcare professionals should offer all adults with FH a referral to a specialist with expertise in FH for confirmation of diagnosis and initiation of cascade testing
    • healthcare professionals should offer all children and young people diagnosed with, or being investigated for, a diagnosis of FH a referral to a specialist with expertise in FH in children and young people. This should be in an appropriate child/young person-focused setting that meets the standards within the 'National service framework for children, young people and maternity services' (available from www.dh.gov.uk)

  • drug treatment in adults:
    • prescribing of drug therapy for adults with homozygous FH should be undertaken within a specialist centre

    • refer adults with FH to a specialist with expertise in FH if treatment with the maximum tolerated dose of a high-intensity statin and ezetimibe does not achieve a recommended reduction in LDL-C concentration of greater than 50% from baseline (that is, LDL-C concentration before treatment)

    • refer adults with FH to a specialist with expertise in FH for consideration for further treatment if they are assessed to be at very high risk of a coronary event, that is, if they have any of the following:
      • established coronary heart disease
      • a family history of premature coronary heart disease
      • two or more other cardiovascular risk factors (for example, they are male, they smoke, or they have hypertension or diabetes)

    • adults with FH with intolerance or contraindications to statins or ezetimibe should be offered a referral to a specialist with expertise in FH for consideration for treatment with either a bile acid sequestrant (resin), nicotinic acid, or a fibrate to reduce their LDL-C concentration

    • the decision to offer treatment with a bile acid sequestrant (resin), nicotinic acid or a fibrate in addition to initial statin therapy should be taken by a specialist with expertise in FH

    • offer people with FH a referral to a specialist with expertise in FH if they are experiencing side effects that compromise concordance with lipid-modifying drug therapy

  • drug treatment in children:
    • will be under the guidance of a specialist

Refer the person to an FH specialist service for DNA testing if they meet the Simon Broome criteria for possible or definite FH, or they have a DLCN score greater than 5 (2)

Inform all people who have an identified mutation diagnostic of FH that they have an unequivocal diagnosis of FH even if their LDL-C concentration does not meet the diagnostic criteria (2)

Notes:

  • NICE suggest (3)
    • that clinicians should onsider the possibility of familial hypercholesterolaemia and investigate as described in Familial hypercholesterolaemia if they have:
      • a total cholesterol concentration more than 7.5 mmol/litre
      • and a family history of premature coronary heart disease
    • arrange for specialist assessment of people with a total cholesterol concentration of more than 9.0 mmol/litre or a non-HDL cholesterol concentration of more than 7.5 mmol/litre even in the absence of a first-degree family history of premature coronary heart disease
  • most FH patients can be managed in primary care (4)

Reference: