Presenter of 1 Presentation
O041 - SPATIAL IMPACT ON LIFE EXPECTANCY DOES NOT CORRECT FOR FAMILIAL HYPERCHOLESTEROLEMIA (ID 164)
Abstract
Background and Aims
After diagnosis, patients with familial hypercholesterolemia (FH) are advised lifelong cholesterol-lowering treatment. Although without trial evidence, we always propose to combine a healthy lifestyle with statins as the first line of therapy. The geographic variation of life expectancy in the Netherlands has enabled a trial by nature of the same untreated FH mutation in a beneficial and general environment.
Methods
We performed a nationwide cascade screening and obtained a large pedigree with the S306L mutation in the low-density lipoprotein receptor (LDLR ) gene. Before the statins became available in 1990, we determined the all-cause standardized mortality ratio (SMR). Patients and spouses were compared with Poisson regression (relative risk).
Results
Between 1800 and 1989, 147 deaths occurred in 14,152 person-years. Overall, the SMR was 1.25 (95% CI 1.05-1.46; P = 0.0056). The spouses in a beneficial environment had an SMR of 0.75 (95% CI 0.55-0.99; P =0.0547). The mortality in this beneficial environment was not increased (SMR 1.16; 95% CI 0.85-1.54 ; P =0.1794), while other parts confirmed the known overall excess mortality from untreated FH (SMR 1.29; 95% CI 1.05-1.57; P = 0.0076). However, the FH patients in the beneficial environment had 1.5 times more deaths relative to their spouses (RR 1.46; 95% CI 0.96-2.22; P =0.07388).
Conclusions
A favorable local environment decreased excess mortality significantly. However, the S306L mutation in the LDLR gene still caused the expected excess mortality locally. Our findings show that a beneficial lifestyle is an add-on but not an alternative for the immediate start of cholesterol-lowering treatment.