Grant: Knowledge Synthesis Grant: Socio-Economic Burden of Inherited Disease

Homozygous familial hypercholesterolemia (HoFH) is a very rare disease (referred to as "orphan disease") characterized by extremely high levels of plasma levels of low-density lipoprotein cholesterol (LDL-C) and severe atherosclerotic cardiovascular disease (heart attacks, sudden cardiac death) in youth. Survival beyond 30 years of age was unusual until the advent of medication and LDL filtration (apheresis) techniques. The burden of HoFH in Canada is unknown. The goal of this proposal is to review the current status of HoFH, provide a thorough review of the burden of disease in Canada, costs to the Healthcare system and implement changes to advocate access to specialized care for these patients. We have established a national registry for FH in Canada at 19 academic centers across Canada with more than 200 physicians and health care participants (www.FHCanada.net). The registry uses a centralized, secure web-based database. From the onset, we created smaller registries for orphan lipoprotein disorders under an initiative entitled: Systems and Molecular Approaches to Severe Hyperlipidemias which includes HoFH and other orphan diseases of lipids. We have previously published several systematic reviews and meta-analysis on heterozygous FH. Collectively these activities demonstrate the productivity of the FH Canada network, and the ability to leverage the significant national expertise that exists in this topic into both new health-related knowledge about this condition, and the translation of this knowledge into practice. The track record to-date establishes the ability of this team of national investigators to collaborate productively and efficiently. The current proposal builds on the existing infrastructure of the FH Canada National Registry, and the network of engaged experts, to develop a world-class national research effort in HoFH.