cascade testing in FH

Last reviewed 05/2021

• 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
  • 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
  • use of a nationwide, family-based, follow-up system is recommended to enable comprehensive identification of people affected by FH
    • in families in which a mutation has been identified, the mutation and not LDL-C concentration should be used to identify affected relatives. This should include at least the first- and second- and, when possible, third-degree biological relatives
    • in the absence of a DNA diagnosis, cascade testing using LDL-C concentration measurements should be undertaken to identify people with FH

Reference:

• (1) NICE (November 2017). Identification and management of familial hypercholesterolaemia