Long-term follow-up of young adults with familial hypercholesterolemia after participation in clinical trials during childhood

J Clin Lipidol. 2015 Nov-Dec;9(6):778-785. doi: 10.1016/j.jacl.2015.08.008. Epub 2015 Aug 29.


Background: There are little long-term data on patients with familial hypercholesterolemia (FH) who initiated lipid-lowering therapy during childhood.

Objective: To study long-term outcomes in young adults with FH who participated in clinical trials on lipid-lowering therapy during childhood.

Methods: Participants in at least 1 of 6 clinical trials that took place between 1999 and 2008 were interviewed in 2011 or 2013. Frequency of medical consultations, use of lipid-lowering therapy, lipid levels, side effects, diet, tobacco use, and emotional issues were investigated using information from interviews, blood samples and medical records.

Results: Of the 118 individuals who participated in the trials, 67 (57%) were included. Median age was 25 years, and median time before follow-up was 10 years. Forty-eight (72%) participants were using statins at follow-up, 8 (12%) were also using ezetimibe, and 19 (28%) were not using any lipid-lowering therapy. Mean LDL-cholesterol (LDL-C) was 3.68 mmol/L in statin users and 6.08 mmol/L in non-users (P < .001). Only 6 (9%) participants reached treatment goal, ie, an LDL-C ≤2.5 mmol/L. Participants who attended a consultation ≤2 years before follow-up had a significantly lower LDL-C compared with those who had a consultation >2 years before follow-up (4.10 and 5.17 mmol/L, respectively; P = .02). Statin users had their last consultation more recently than non-users (median 1.4 and 2.2 years, respectively; P = .02).

Conclusions: Statins are underused in this population, and most patients have not reached treatment goal. Those with recent consultations had lower LDL-C levels and were more often statin users. Therefore, yearly consultations for young adults with FH seem warranted.

Keywords: Familial hypercholesterolemia; LDL-Cholesterol; Statins; Treatment adherence; Young adults.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Child
  • Clinical Trials as Topic*
  • Diet
  • Emotions
  • Female
  • Follow-Up Studies
  • Humans
  • Hyperlipoproteinemia Type II / blood
  • Hyperlipoproteinemia Type II / drug therapy*
  • Hyperlipoproteinemia Type II / psychology
  • Hypolipidemic Agents / adverse effects
  • Hypolipidemic Agents / pharmacology
  • Hypolipidemic Agents / therapeutic use*
  • Lipids / blood
  • Male
  • Tobacco Use
  • Young Adult


  • Hypolipidemic Agents
  • Lipids