HOMOZYGOUS FAMILIAL HYPERCHOLESTEROLEMIA IN CANADA

BackgroundHomozygous familial hypercholesterolemia (HoFH) is life-threatening orphan disease characterized by high levels of low-density lipoprotein cholesterol (LDL-C). Untreated patients often present with extensive xanthomas and marked premature atherosclerotic cardiovascular (ASCVD) before the age 20. Prior to advent statins extracorporeal LDL filtration techniques, survival beyond 30 years was unusual. Treatment lipid-lowering therapy highly efficacious has dramatically increased life expectancy, reducing risk ASCVD background population rates. Canada known have several founder effect regions for HoFH, including Québec. Clinical outcomes in HoFH patients, especially events such as myocardial infarctions or stroke are difficult capture, part because rarity disorder lack registry focusing on this disease.Methods ResultsThe objective our project obtain a comprehensive Canada, estimate cost society caused burden implement changes advocate access specialized care these patients. A standardized questionnaire sent 19 academic sites across participating FH network. We previously identified 79 cases country, captured 46 cases. Here we describe their medical history, lipid levels, treatments clinical outcomes. At time entry Registry, mean 44 +/- years, majority females (54.4%), representing 5 provinces. The average diagnosis 16 4 years. 67.4% having untreated > 10 mmol/L. Presence physical markers, corneal arcus, were also found 80.4% 26.1% respectively. For therapy, 52.2% undergoing LDL-apheresis, 91% 41% PCSK9 inhibitors. 54.3% displayed ASCVD, 43.5% aortic stenosis, 15.2% experienced infarction, 36.9% undergone one more coronary artery bypass graft procedures.ConclusionWe plan use data at provincial national helped Canadian Organization Rare Diseases (CORD) Réseau Québecois des maladies orphelines (RQMO), provide care, drugs evinacumab, treatment techniques apheresis. This work will important new health-related knowledge about determinants phenotypic manifestations examine quality healthcare system. disease. Homozygous Methods procedures. ConclusionWe