management of familial hypercholesterolaemia

Last reviewed 05/2021

The treatment of familial hypercholesterolaemia (FH) should be more aggressive than sporadic hypercholesterolaemia.

The first-line treatment of familial hypercholesterolaemia is a statin. There is evidence that high statin doses, for example atorvastatin 80 mg daily, may reverse intimal thickening in FH (1).

Several members of each family, including children and women in their reproductive years will commonly require treatment and advice. Also combinations of lipid lowering drugs may be necessary and early cardiological investigation is often required. Where necessary, other lipid lowering therapies including apheresis and plasmapheresis, are required to achieve LDL cholesterol values as low as possible (2). Hence, in general, the diagnosis and management strategy is best co-ordinated by a specialist.

NICE have issued guidance concerning the treatment of FH (3). Some of the key recommendations have been summarised below:

  • drug treatment Adults
    • a high-intensity statin should be offered with the lowest acquisition cost as the initial treatment for all adults with FH and aim for at least a 50% reduction in LDL-C concentration from the baseline measurement

    • ezetimibe monotherapy is recommended as an option for treating primary heterozygous-familial hypercholesterolaemia in adults in whom initial statin therapy is contraindicated

    • ezetimibe monotherapy is recommended as an option for treating primary heterozygous-familial hypercholesterolaemia in adults who cannot tolerate statin therapy

    • ezetimibe, co-administered with initial statin therapy, is recommended as an option for treating primary (heterozygous-familial) hypercholesterolaemia in adults who have started statin therapy when:
      • serum total or low-density lipoprotein (LDL) cholesterol concentration is not appropriately controlled either after appropriate dose titration of initial statin therapy or because dose titration is limited by intolerance to the initial statin therapy (
      • and a change from initial statin therapy to an alternative statin is being considered

  • if managing primary heterozygous familial hypercholesterolaemia in people whose LDL-C levels are not adequately controlled despite maximal tolerated lipid-lowering therapy, see the NICE technology appraisal guidance on alirocumab and evolocumab
  • 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) or a fibrate to reduce their LDL-C concentration
      • decision to offer treatment with a bile acid sequestrant (resin) or a fibrate in addition to initial statin therapy should be taken by a specialist with expertise in FH
      • healthcare professionals should exercise caution when adding a fibrate to a statin because of the risk of muscle-related side effects (including rhabdomyolysis). Gemfibrozil and statins should not be used together

  • drug treatment in children and young people
    • lipid-modifying drug therapy for a child or young person with FH should usually be considered by the age of 10 years. The decision to defer or offer lipidmodifying drug therapy for a child or young person should take into account:
      • their age
      • the age of onset of coronary heart disease within the family, and
      • the presence of other cardiovascular risk factors, including their LDL-C concentration
    • offer statins to children with FH by the age of 10 years or at the earliest opportunity thereafter
    • statin therapy for children and young people should be initiated by a healthcare professional with expertise in treating children and young people with FH, and in a child-focused setting

Liver transplantation

  • NICE suggest that the option of offering liver transplantation should be considered for the treatment of people with homozygous FH after treatment with lipid-modifying drug therapy and LDL apheresis
    • decision to refer for liver transplantation should take place in partnership with the patient and/or their relatives in an appropriate specialist setting, following a discussion of the benefits and potential harms of undertaking or declining transplantation


  • when the decision has been made to offer adults or children/young people with FH treatment with a statin, baseline liver and muscle enzymes (including transaminases and creatine kinase, respectively) should be measured before initiation of therapy. However, people with raised liver or muscle enzymes should not routinely be excluded from statin therapy
  • routine monitoring of creatine kinase is not recommended in asymptomatic adults or children/young people with FH who are receiving treatment with a statin


  • (1) Smilde, TJ, van Wissen, S. et al.Effect of aggressive versus conventional lipid lowering on atherosclerosis progression in familial hypercholesterolaemia (ASAP): a prospective, randomised double-blind trial. Lancet 2001; 357: 577-81.
  • (2) JBS2: Joint British Societies' guidelines on prevention of cardiovascular disease in clinical practice. Heart 2005; 91 (Supp 5).
  • (3) NICE (November 2017). Identification and management of familial hypercholesterolaemia