Print Print
CKS is no longer commissioned by the National Institute for Health and Clinical Excellence (NICE). NICE remains committed to providing a replacement service for CKS and is currently reviewing its options. In the meantime, although CKS content is now not being maintained, it still remains relevant and will continue to be made available. CKS content was generated under a programme of topic creation and update. To check if the topic you are viewing is current or out of date, please refer to the topic publication details by clicking on the 'How up-to-date is this topic?' link in the left hand menu on individual topic pages.

Hypercholesterolaemia - familial - Management
What should I do if familial hypercholesterolaemia is suspected?

  • If familial hypercholesterolaemia (FH) is suspected in an adult:
    • Take two measurements of plasma lipid concentrations (including low-density lipoprotein cholesterol [LDL-C] concentration), preferably after a fast of at least 10 hours.
    • Look for tendon xanthomata.
    • Take a family history (if possible) of myocardial infarction and raised cholesterol.
    • Exclude secondary hypercholesterolaemia:
      • An underlying cause can usually be detected from the history and examination, and by checking thyroid stimulating hormone, fasting blood glucose concentration, renal function, electrolytes, and liver function tests.
      • An underlying condition or drug may be exacerbating primary FH, and serum lipids should be rechecked (if possible) after the condition has resolved or the drug has been stopped.
    • To confirm a diagnosis of FH, see Diagnosis in adults.
  • If FH is suspected in a child or young person (up to 15 years of age):
    • Diagnosis in children and young people should be made by a specialist:
      • Either do an initial assessment in primary care as for adults, or refer to a specialist for the initial assessment to be carried out.
      • 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.

© NHS Institute for Innovation and Improvement