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Vancouver doctors develop genetic test for inherited high cholesterol

About 90% of Canadians with the life-threatening condition remain undiagnosed

Doctors at St. Paul's hospital are genetically testing FH patients to better tailor treatments to the individual.

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Submitted / Provincial Health Services Authority

Doctors at St. Paul's hospital are genetically testing FH patients to better tailor treatments to the individual.

Rowena Dagley was 36 when doctors told her she had been having minor heart attacks for the past four months because her arteries were 95 per cent blocked

She is one of an estimated 18,000 B.C. residents who suffer from familial hypercholesterolemia (FH), or in other words, inherited high cholesterol. New research shows only 10 per cent of Canadians affected have been diagnosed, say doctors.

“It affects 1 out of 250 people – it’s more common than we previously thought,” said Dr. Liam Brunham, who works at the Healthy Heart Program Prevention Clinic at St. Paul’s Hospital.

“It’s substantially under diagnosed and undertreated.

Those with FH are prone to having high levels of cholesterol in their arteries, even if they eat a healthy diet and live an active lifestyle. FH patients also have a higher risk of developing heart disease. 

Brunham, who also teaches at UBC’s faculty of medicine, is genetically testing FH patients to pinpoint the relationship between several gene mutations and the disease. People with FH have a 50 per cent chance of passing it on to their children.

“We want to establish the evidence for this test locally in B.C. We could then move this into the clinical labs, so it becomes a test that any physician can order.”

Brunham’s research also aims to help doctors provide more precise treatment for individual FH patients and determine whether family members have inherited the condition.

At the time of her heart attacks in 2013, Dagley had been dutifully going to the gym four times a week in an effort to manage her high cholesterol. The Nanaimo resident was diagnosed with the condition as a teenager.

“There is such a stigma behind high cholesterol,” she said. “Everyone told me, just lose weight, you’re fine.”

But Dagley hopes her story will persuade those suffering from high cholesterol to get tested for FH.

Dagley’s biological mother died of a massive heart attack at 41 years of age.

“She probably didn’t know and so she wasn’t doing anything to help that,” said Dagley, who is adopted.

Her daughter, 16, also has FH and is currently taking two medications for the condition. Dagley herself has already undergone several surgeries where doctors inserted stents to hold open her arteries.

“The diagnosis was disheartening at first but you learn to live with it. I’m very fortunate that I know.”

There are currently 1,000 people in St. Paul’s FH registry. Those on the registry have the option to take a genetic test to determine whether their children have the same condition.

Brunham is encouraging anyone whose family has a history of heart disease to speak with their healthcare provider.

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