LDL-cholesterol target achievement in patients with heterozygous familial hypercholesterolemia at Groote Schuur Hospital: Minority at target despite large reductions in LDL-C

Atherosclerosis. 2018 Oct:277:327-333. doi: 10.1016/j.atherosclerosis.2018.06.820.

Abstract

Background and aims: Familial hypercholesterolemia (FH) is characterized by markedly increased LDL-cholesterol (LDL-C) and premature cardiovascular disease (CVD). LDL-C lowering is the cornerstone of therapy. The aim of our study was to evaluate LDL-C target achievement and explore reasons for not reaching target in FH patients attending a public-sector lipid clinic at Groote Schuur Hospital in Cape Town, South Africa.

Methods: We reviewed clinical records of patients with genetically confirmed heterozygous FH (heFH) retrospectively. For patients seen after 2013, when new guidelines were published, we determined reasons for use of submaximal therapy.

Results: Our study population consisted of 776 adult heFH patients. A substantial proportion (41%) of those younger than 50 years of age had already experienced a cardiovascular event. The mean (±SD) untreated and best achieved LDL-C values during follow up were 8.1 ± 2.1 and 4.0 ± 1.5 mmol/l, respectively. Despite a mean LDL-C reduction of 50%, only 140 (25%) achieved an LDL-C ≤ 3.0 mmol/l. Of the 164 participants with follow up after 2013, 42 did not reach LDL-C < 3.0 mmol/l and did not use maximal therapy (26%). The commonest reasons for not using maximum therapy were statin side-effects (n = 15, 36%) and acceptance by the patient (n = 9, 22%) or the physician (n = 8, 19%) of the control achieved.

Conclusions: The heFH population in Cape Town is characterized by high baseline LDL-C, a high prevalence of CVD at presentation and low rates of achieving an LDL-C target of 3.0 mmol/l.

Keywords: Cardiovascular disease; Ezetimibe; Heterozygous familial hypercholesterolemia; LDL-Cholesterol; PCSK9 inhibitors; Statins; Target achievement.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Anticholesteremic Agents / adverse effects
  • Anticholesteremic Agents / therapeutic use*
  • Biomarkers / blood
  • Cardiovascular Diseases / epidemiology
  • Cardiovascular Diseases / prevention & control
  • Cholesterol, LDL / blood*
  • Down-Regulation
  • Drug Therapy, Combination
  • Ezetimibe / therapeutic use
  • Female
  • Genetic Predisposition to Disease
  • Heredity
  • Heterozygote
  • Humans
  • Hydroxymethylglutaryl-CoA Reductase Inhibitors / therapeutic use
  • Hyperlipoproteinemia Type II / blood
  • Hyperlipoproteinemia Type II / drug therapy*
  • Hyperlipoproteinemia Type II / epidemiology
  • Hyperlipoproteinemia Type II / genetics
  • Male
  • Middle Aged
  • PCSK9 Inhibitors
  • Pedigree
  • Phenotype
  • Prevalence
  • Proprotein Convertase 9 / metabolism
  • Retrospective Studies
  • Risk Assessment
  • Risk Factors
  • Serine Proteinase Inhibitors / therapeutic use
  • South Africa / epidemiology
  • Time Factors
  • Treatment Outcome

Substances

  • Anticholesteremic Agents
  • Biomarkers
  • Cholesterol, LDL
  • Hydroxymethylglutaryl-CoA Reductase Inhibitors
  • PCSK9 Inhibitors
  • Serine Proteinase Inhibitors
  • PCSK9 protein, human
  • Proprotein Convertase 9
  • Ezetimibe