Prevalence and pharmacologic management of familial hypercholesterolemia in an unselected contemporary cohort of patients with stable coronary artery disease

Clin Cardiol. 2018 Aug;41(8):1075-1083. doi: 10.1002/clc.23031. Epub 2018 Aug 20.

Abstract

Introduction: Familial hypercholesterolemia (FH) is an inherited disorder characterized by elevated plasma levels of low-density lipoprotein cholesterol (LDL-C) associated with premature cardiovascular disease.

Methods: Using the data from the START (STable Coronary Artery Diseases RegisTry) study, a nationwide, prospective survey on patients with stable coronary artery disease (CAD), we described prevalence and lipid lowering strategies commonly employed in these patients. The study population was divided into "definite/probable FH," defined as a Dutch Lipid Clinic Network (DLCN) score ≥6, "possible FH" with DLCN 3-5, and "unlikely FH" in presence of a DLCN <3.

Results: Among the 4030 patients with the DLCN score available, 132 (3.3%) were classified as FH (2.3% with definite/probable and 1.0% with possible FH) and 3898 (96.7%) had unlikely FH. Patients with both definite/probable and possible FH were younger compared to patients not presenting FH. Mean on-treatment LDL-C levels were 107.8 ± 41.5, 84.4 ± 40.9, and 85.8 ± 32.3 (P < 0.0001) and a target of ≤70 mg/dL was reached in 10.9%, 30.0%, and 22.0% (P < 0.0001) of patents with definite/probable, possible FH, and unlikely FH, respectively. Statin therapy was prescribed in 85 (92.4%) patients with definite/probable FH, in 38 (95.0%) with possible FH, and in 3621 (92.9%) with unlikely FH (P = 0.86). The association of statin and ezetimibe, in absence of other lipid-lowering therapy, was more frequently used in patients with definite/probable FH compared to patients without FH (31.5% vs 17.5% vs 9.5%; P < 0.0001).

Conclusions: In this large cohort of consecutive patients with stable CAD, FH was highly prevalent and generally undertreated with lipid lowering therapies.

Keywords: PCSK-9 inhibitors; familial hypercholesterolemia; management; stable coronary artery disease; statin; survey; treatment.

Publication types

  • Multicenter Study
  • Observational Study

MeSH terms

  • Aged
  • Biomarkers / blood
  • Cholesterol, LDL / blood*
  • Coronary Artery Disease / blood
  • Coronary Artery Disease / epidemiology*
  • Coronary Artery Disease / etiology
  • Female
  • Humans
  • Hyperlipoproteinemia Type II / complications
  • Hyperlipoproteinemia Type II / drug therapy*
  • Hyperlipoproteinemia Type II / epidemiology
  • Hypolipidemic Agents / therapeutic use*
  • Italy / epidemiology
  • Male
  • Middle Aged
  • Patient Selection
  • Prevalence
  • Prospective Studies
  • Risk Factors

Substances

  • Biomarkers
  • Cholesterol, LDL
  • Hypolipidemic Agents