St. Paul's Hospital cholesterol registry spawns national initiative

Dr. Jiri Frohlich (left), director of healthy heart clinical trials at St. Paul’s Hospital, discusses the potential for a national hypercholesterolemia registry with Dr. Jacques Genest, Scientific Director of the Centre for Innovative Medicine at the McGill University Health Centre.

Friday, December 13, 2013, Vancouver, BCA St. Paul’s Hospital registry for patients genetically predisposed to dangerously high levels of cholesterol – a first of its kind in North America – is spreading across the country.  Doctors in Montreal are studying the BC initiative with the aim of implementing their own registry in the spring of 2014.

The Familial Hypercholesterolemia (FH) Registry at St. Paul’s Hospital was created in September 2012 to improve detection and management of the potentially deadly disorder.  FH is a genetic disorder that causes very high levels of cholesterol in the blood that may result in early heart disease and strokes (in some cases in people as young as 20 years old).  Because the gene for FH is dominant, it is present in approximately half of the members of an affected family.

Familial hypercholesterolemia is one of the most common genetic disorders, yet 85 percent of those affected remain undiagnosed.  This can create dramatic repercussions, especially within the families of those affected,” said Dr. Jiri Frohlich, director of healthy heart clinical trials at St. Paul’s Hospital.  “The interest we are seeing in Montreal and other centres across Canada takes us one step closer to creating a national registry that will raise the profile of this issue and further promote the need for more testing as a form of prevention.”

While many people develop high cholesterol in their 20s and 30s, people with FH are born with it making early detection essential.  Some patients as young as nine years old can benefit from medication that helps treat the disorder.  People with familial hypercholesterolemia are 20 times more likely to suffer a heart attack or stroke, and the disorder has a prevalence rate greater than type-1 diabetes. 

Fred Hazen, a 55-year millwright from Kamloops, had a heart attack and bypass surgery in 2002.  In May of this year he had a second heart surgery to replace a heart valve.  Hypercholesterolemia has affected his mother, both brothers and several cousins.  One of his brothers had his first heart attack at 26 years old.  This brother passed away this summer, as did his mother.

Familial hypercholesterolemia runs throughout my family.  The registry has helped me understand my disease and steered me to the right treatment and prolonged my life,” said Hazen.

Most FH patients are shocked to learn that their families are also at risk, but Dr. Frohlich doesn’t just want the general public to be aware of the registry.  He wants physicians to look for signs of FH in their patients.  The registry is vital to the approximately 8,000 people in BC who are unaware they are afflicted by this potentially deadly disorder. 

British Columbia and Quebec are not alone in needing a familial hypercholesterolemia registry – this country needs a national registry,” said Dr. Jacques Genest, Scientific Director of the Centre for Innovative Medicine at the McGill University Health Centre.  “Together we are paving the way in North America based on the successful experiences of our European counterparts.”

Beginning with a database of 450 patients from the SPH Prevention Clinic (part of the Healthy Heart Program), investigators in BC approached patients to enroll in the registry.  53 percent have enrolled so far, 27 percent are considering enrolling, while 20 percent have declined.  That number is vexing for Dr. Frohlich, who believes better education about the purpose of the registry will increase enrolment.

By enrolling, these people are not only helping themselves, they are helping their affected family members get the care that they require as well,” said Dr. Frohlich.  “Disease registries are also a powerful tool to engage physicians in the development and adoption of best practices”.

The registry uses “cascade screening”, a method that involves testing the relatives of people affected by FH.  Since the incidence of FH is so high in relatives, doctors even suggest testing cousins, nephews and nieces.  This method has been used in other countries with a great deal of success, and it has been established that this process of “seek and treat” saves both lives and money through a health promotion and disease prevention strategy.

National FH registries have been successfully implemented in Spain, Wales and the Netherlands.  In Canada, the burden of the disease is estimated to be approximately 83,500 patients. 

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