cascade testing in FH

FREE subscriptions for doctors and students... click here
You have 3 more open access pages.

  • 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:

Last reviewed 05/2021

Links: