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Corresponding author: Dr Jacques Genest, Research Institute of the McGill University Health Centre, 1001 Decarie, Montreal, Quebec H4A 3J1, Canada. Tel.: +1-514-934-1934.
Mutations causative of familial hypercholesterolaemia: screening of 98 098 individuals from the Copenhagen General Population Study estimated a prevalence of 1 in 217.
This would give an estimate of 140,000 cases in Canada. The clinical features of FH rely on an elevated low-density lipoprotein cholesterol (LDL-C) level, a family history of elevated LDL-C, premature atherosclerotic cardiovascular disease (ASCVD), the presence of xanthomas on the extensor tendons, xanthelasmas and premature corneal arcus, and the presence of a mutation in the genes that cause FH (LDLR, APOB, and PCSK9).
Awareness
Yet, physician awareness of this condition is poor, because only a minority of patients are recognized and adequately treated.
European Atherosclerosis Society Consensus Panel. Familial hypercholesterolaemia is underdiagnosed and undertreated in the general population: guidance for clinicians to prevent coronary heart disease: consensus statement of the European Atherosclerosis Society.
There are several reasons for this. The clinical features of FH are uncommon; a family history of an elevated LDL-C is difficult to elicit, especially of a parent who is treated with a statin drug; and a family history of premature ASCVD may likewise be difficult to obtain. The diagnostic criteria for FH rely on the Dutch Lipid Clinics Network or the Simon Broome criteria,
This led to 1 of the most extraordinary yet unheralded successes in contemporary medicine. The “natural course” of untreated FH (before effective lipid-lowering therapies) was one of premature ASCVD and death, occurring in the fourth decade of life in men, and 10 years later in women. In the statin drug era, life expectancy is normal if recognition and appropriate treatment is initiated in childhood or early adulthood.
European Atherosclerosis Society Consensus Panel. Familial hypercholesterolaemia is underdiagnosed and undertreated in the general population: guidance for clinicians to prevent coronary heart disease: consensus statement of the European Atherosclerosis Society.
To achieve this remarkable result, the Netherlands instituted a registry of patients with FH and put in place health systems to promote the identification of patients, obtain family histories, and enable cascade screening (testing all first-degree relatives). Based on these results, Spain, France, the United Kingdom, and many other countries have followed suit. The US FH Foundation is but the latest example and a global call to arms is meant to raise awareness about FH.
Contemporary trends in the management and outcomes of patients with familial hypercholesterolemia in Canada: results from a prospective observational study.
Contemporary trends in the management and outcomes of patients with familial hypercholesterolemia in Canada: results from a prospective observational study.
European Atherosclerosis Society Consensus Panel. Familial hypercholesterolaemia is underdiagnosed and undertreated in the general population: guidance for clinicians to prevent coronary heart disease: consensus statement of the European Atherosclerosis Society.
The leaders of the UBC FH registry should be congratulated for examining their data objectively and using metrics as performance indicators.
The Healthy Heart Program at St. Paul's Hospital in Vancouver, British Columbia, Canada is a renowned clinical and research centre staffed with expert clinicians, scientists, and health outcomes researchers. For the present study, they used a strict definition of FH, based on the widely accepted Dutch Lipid Clinic criteria.
The demographic data presented are well in keeping with a diverse population. The results presented are important. Despite achieving a high rate of statin drug use in adult patients, only half were receiving a high-potency statin drug. Although many were also receiving ezetimibe, 15% were receiving no treatment and 6.8% were receiving “other lipid-lowering therapies.”
This led to an overall average 33% decrease in LDL-C levels from baseline—an encouraging result but still not quite matching the recommended goals of a 50% reduction for primary prevention and < 2.0 mmol/L for secondary prevention.
Contemporary trends in the management and outcomes of patients with familial hypercholesterolemia in Canada: results from a prospective observational study.
Strikingly, the group of patients with established ASCVD fared less well than patients without this condition. Not unexpectedly, the proportion of patients achieving a LDL-C level < 1.8 mmol/L was very low.
The Kaplan-Meier curves provide some insight into 3700 patient-years of follow-up and show the high rate of cardiovascular events and recurrent cardiovascular events in this population. Not unexpectedly, men with definite heterozygous FH and cardiovascular risk factors fared worse. Spurred by the BC FH registry, a national initiative, FH Canada was created to address the issues of raising awareness, identifying patients, encouraging cascade screening, and offering treatment and novel medications (http://www.FHCanada.net).
The challenge is to meet these goals; the opportunity is to use these data to improve patient care and access to effective therapies and ultimately improve clinical outcomes. The importance of registries in medicine cannot be overemphasized.
With the patient at the centre of a continuum of a feedback loop, a patient-centred, disease-specific registry has been shown to influence outcomes in patients with acute coronary syndromes and other forms of cardiovascular diseases (Fig. 1).
Figure 1The FH Canada Registry gathers data from individual clinics across Canada to improve patient care and clinical outcomes. Performance indicators are fed back to clinicians and clinics, prompting adjustments in patient care. FH, familial hypercholesterolemia; MD, medical doctor.
As shown by the UBC FH registry, a dedicated group of physicians can champion the care of patients, involve a health-care team (nurses, dieticians, coordinators) and establish a health service for the province. This initiative has now been taken to a national level. The FH Canada registry was initiated in 2015 and consists of a secure database that is compliant with the Personal Information Protection and Electronic Documents Act.
Office of the Privacy Commissioner of Canada. The Personal Information Protection and Electronic Documents Act (PIPEDA). Available at: https://www.priv.gc.ca/leg_c/leg_c_p_e.asp. Accessed August 21, 2016.
It allows data entry from physicians' offices or clinics or from existing databases. Clinic physicians retain all information concerning their patients, and the anonymized registry data can then be used by researchers and health agencies from the Ministry of Health to determine the burden of disease, health outcomes, and health economics. The simple metrics used in the study by Burnham et al.,
Contemporary trends in the management and outcomes of patients with familial hypercholesterolemia in Canada: results from a prospective observational study.
namely, absolute LDL-C levels, percentage of LDL-C reduction, and percentage at a specific target, can be used to improve patient care. These data can be fed back to clinicians in the form of publications, clinic audits, and conferences to spur a personalized approach to improve treatment according to current guidelines and improve outcomes.
Funding Sources
FH Canada is supported by unrestricted grants from Amgen, Sanofi, Pfizer, Aegerion, Lilly and Valeant.
Mutations causative of familial hypercholesterolaemia: screening of 98 098 individuals from the Copenhagen General Population Study estimated a prevalence of 1 in 217.
European Atherosclerosis Society Consensus Panel. Familial hypercholesterolaemia is underdiagnosed and undertreated in the general population: guidance for clinicians to prevent coronary heart disease: consensus statement of the European Atherosclerosis Society.
Contemporary trends in the management and outcomes of patients with familial hypercholesterolemia in Canada: results from a prospective observational study.
Office of the Privacy Commissioner of Canada. The Personal Information Protection and Electronic Documents Act (PIPEDA). Available at: https://www.priv.gc.ca/leg_c/leg_c_p_e.asp. Accessed August 21, 2016.
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