Mutation-carrying relatives of patients with FH are at increased long-term CV risk
Long‐Term Cardiovascular Risk in Heterozygous Familial Hypercholesterolemia Relatives Identified by Cascade ScreeningLiterature - Kjærgaard KA, Christiansen MK, Schmidt M, et al. - J Am Heart Assoc. 2017;6:e005435
- The risk of the primary end point was higher in mutation-carrying HeFH relatives compared with the general population (adjHR: 1.65, 95%CI: 1.17–2.33). This was not the case in relatives without a mutation (adjHR: 0.85, 95%CI: 0.56–1.29). Accordingly, the risk in mutation-carrying HeFH relatives compared with non-carrying relatives was increased (adjHR: 1.94, 95%CI: 1.14–3.31).
- Mutation-carrying HeFH relatives showed a higher risk than the general population with regard to AMI (adjHR: 3.14, 95%CI: 1.78–5.55), TIA (adjHR: 4.38, 95%CI: 1.95–9.84), PCI (adjHR: 4.78, 95%CI: 2.49–9.18) and CABG (adjHR: 13.8, 95%CI: 7.14–26.7).
- There was no difference in any of the secondary outcomes among the non-carrying relatives compared with the general population cohort, except for an elevated risk of coronary events, which was driven by cardiac revascularization procedures but not AMI.
- When comparing the two groups of relatives, only the risk of coronary events, CV events, and CABG was elevated in carriers. No increased all-cause mortality risk was noted in either group of HeFH relatives compared with the general population cohort.
HeFH relatives with LDLR mutations had an increased long-term risk of adverse CV events compared with non-mutation-carrying relatives and the general population cohort. These results support the importance of cascade screening and aggressive lipid-lowering therapy in families with familial hypercholesterolemia.