Coronary heart disease mortality in treated familial hypercholesterolaemia: Update of the UK Simon Broome FH register

Atherosclerosis. 2018 Jul:274:41-46. doi: 10.1016/j.atherosclerosis.2018.04.040. Epub 2018 May 1.


Background and aims: Patients with familial hypercholesterolaemia (FH) have an elevated risk of coronary heart disease (CHD). Here we compare changes in CHD mortality in patients with heterozygous (FH) pre 1992, before lipid-lowering therapy with statins was used routinely, and in the periods 1992-2008 and 2008-2016.

Methods: 1903 Definite (DFH) and 1650 Possible (PFH) patients (51% women) aged 20-79 years, recruited from 21 lipid clinics in the United Kingdom and followed prospectively between 1980 and 2016 for 67,060 person-years. The CHD standardised mortality ratio (SMR) compared to the population in England and Wales was calculated (with 95% Confidence intervals).

Results: There were 585 deaths, including 252 from CHD. Overall, the observed 2.4-fold excess coronary mortality for treated DFH post-1991 was significantly higher than the 1.78 excess for PFH (35% 95% CI 3%-76%). In patients with DFH and established coronary disease, there was a significant excess coronary mortality in all time periods, but in men it was reduced from a 4.83-fold excess (2.32-8.89) pre-1992 to 4.66 (3.46-6.14) in 1992-2008 and 2.51 (1.01-5.17) post-2008, while in women the corresponding values were 7.23 (2.65-15.73), 4.42 (2.70-6.82) and 6.34 (2.06-14.81). Primary prevention in men with DFH resulted in a progressive reduction in coronary mortality over the three time-periods, with no excess mortality evident post-2008 (0.89 (0.29-2.08)), although in women the excess persisted (post-2008 3.65 (1.75-6.72)).

Conclusions: The results confirm the benefit of statin treatment in reducing CHD mortality, but suggest that FH patients with pre-existing CHD and women with FH may not be treated adequately.

Keywords: Cancer mortality; Coronary mortality; Dutch lipid clinic network score; Heterozygous familial hypercholesterolemia.

Publication types

  • Comparative Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Biomarkers / blood
  • Cause of Death
  • Cholesterol / blood*
  • Coronary Disease / blood
  • Coronary Disease / diagnosis
  • Coronary Disease / mortality*
  • Coronary Disease / prevention & control*
  • Follow-Up Studies
  • Healthcare Disparities
  • Humans
  • Hydroxymethylglutaryl-CoA Reductase Inhibitors / therapeutic use*
  • Hyperlipoproteinemia Type II / blood
  • Hyperlipoproteinemia Type II / diagnosis
  • Hyperlipoproteinemia Type II / mortality
  • Hyperlipoproteinemia Type II / therapy*
  • Primary Prevention / methods*
  • Prospective Studies
  • Protective Factors
  • Registries
  • Risk Assessment
  • Risk Factors
  • Sex Factors
  • Time Factors
  • Treatment Outcome
  • United Kingdom / epidemiology


  • Biomarkers
  • Hydroxymethylglutaryl-CoA Reductase Inhibitors
  • Cholesterol