- After adjusting for confounders, patients with probable/definite vs unlikely familial hypercholesterolemia were at a significantly 2-fold higher risk for subsequent major adverse cardiovascular events (MACE).
- The risk persisted despite widespread use of high-intensity statins.
Why this matters
- Familial hypercholesterolemia is largely undiagnosed and undertreated with many individuals not being diagnosed until occurrence of first coronary event.
- Addition of convertase subtilisin/kexin type 9 gene inhibitors to other current optimal lipid-lowering strategies might further improve clinical outcomes in patients with probable/definite familial hypercholesterolemia.
- 1550 patients who underwent percutaneous coronary intervention for acute coronary syndrome (52.6%) or stable coronary artery disease (47.4%) between 2007 and 2012 were evaluated.
- According to Dutch Lipid Clinic Network criteria, score points of 0-2, 3-5 and ≥6 defined familial hypercholesterolemia as unlikely, possible and probable/definite, respectively.
- Primary endpoint: long-term MACE (composite of all-cause death, nonfatal myocardial infarction, or nonfatal ischemic stroke/transient ischaemic attack).
- Mean follow-up period was 6.0±2.4 years
- Funding: Association for the Promotion of Research in Arteriosclerosis, Thrombosis, and Vascular Biology.
- 5.0% patients were classified with probable/definite, 21.4% with possible and 73.6% were unlikely to suffer from familial hypercholesterolemia.
- After adjusting for confounders, those with probable/definite vs unlikely familial hypercholesterolemia had an increased risk for MACE (aHR, 1.922; 95% CI, 1.220-2.999; P=.004).
- Risk for MACE was not observed in patients with possible familial hypercholesterolemia (aHR, 1.105; 95% CI, 0.843-1.447; P=.470).
- In sensitivity analysis including patients discharged on high-intensity statins, probable/definite (HR, 1.982; 95% CI, 1.119-3.508; P=p.018), but not possible (HR, 1.063; 95% CI, 0.765-1.477; P=0.713) familial hypercholesterolemia was associated with increased MACE risk.
- Genetic testing not used to confirm familial hypercholesterolemia.