Vol. 3 No. 2 (2023)
Peer-Reviewed Article

Design, Rationale, and Preliminary Results of the Canadian Homozygous Familial Hypercholesterolemia Registry: 2008 to 2022 Update

Published February 10, 2023

Key Messages

  • Homozygous familial hypercholesterolemia (HoFH) is an orphan disease characterized by extreme elevations of low-density lipoprotein cholesterol (LDL-C) in the blood and premature atherosclerotic cardiovascular disease.
  • Untreated, survival beyond 30 years is rare.
  • The Canadian HoFH Registry was created by clinicians from across Canada to understand the burden of disease, current treatments, outcomes, and costs to society.
  • The registry will be used to inform decisions for access to specialized therapies, such as LDL apheresis and orphan medications.
  • To date, 79 cases of HoFH have been identified across the country, and 52 patients from 5 provinces have been enrolled.