Key priorities for implementation

Key priorities for implementation


  • A family history of premature coronary heart disease should always be assessed in a person being considered for a diagnosis of FH (see Simon Broome criteria in the full guideline).

  • In children at risk of FH because of one affected parent, the following diagnostic tests should be carried out by the age of 10¬†years or at the earliest opportunity thereafter.

    • A DNA test if the family mutation is known.

    • LDL-C concentration measurement if the family mutation is not known. When excluding a diagnosis of FH a further LDL-C measurement should be repeated after puberty because LDL-C concentrations change during puberty.

  • Coronary heart disease risk estimation tools such as those based on the Framingham algorithm should not be used because people with FH are already at a high risk of premature coronary heart disease.

Identifying people with FH using cascade testing

  • Healthcare professionals should offer all people with FH a referral to a specialist with expertise in FH for confirmation of diagnosis and initiation of cascade testing (see appendix D).

  • Cascade testing using a combination of DNA testing and LDL-C concentration measurement is recommended to identify affected relatives of those index individuals with a clinical diagnosis of FH. This should include at least the first- and second- and, when possible, third-degree biological relatives.

  • The use of a nationwide, family-based, follow-up system is recommended to enable comprehensive identification of people affected by FH.



  • Healthcare professionals should consider prescribing a high-intensity statin to achieve a recommended reduction in LDL-C concentration of greater than 50% from baseline (that is, LDL-C concentration before treatment).

Children and young people

  • 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'.

Information needs and support

Information and counselling on contraception for women and girls with FH

  • When lipid-modifying drug therapy is first considered for women and girls, the risks for future pregnancy and the fetus while taking lipid-modifying drug therapy should be discussed. This discussion should be revisited at least annually.

Ongoing assessment and monitoring


  • All people with FH should be offered a regular structured review that is carried out at least annually.

  • National Institute for Health and Care Excellence (NICE)