Heart / Lung Research

A cholesterol condition that’s common yet poorly diagnosed

Kelly Brady has a common but under-diagnosed genetic heart condition. Her daughter has a 50:50 chance of inheriting it.

Five years ago, Kelly Brady was an active 35-year-old. She ran half marathons and played recreational sports and varsity field hockey at university where, while studying biology, her minors included kinesiology and nutrition.

If ever there was an ambassador for good health, she was it.

Her only hint of a health problem at that time was the occasional chest pain on heavy exertion.

Brady, now a high school biology teacher, decided to undergo tests. They revealed her heart was fine.

But a year later while undergoing blood tests for another matter, doctors noticed her cholesterol levels were far too high – particularly for an active young woman. And she was still experiencing some chest pain.

More diagnostics followed.

Tests showed severely blocked coronary arteries

This time, a cardiac CT scan in March 2018 revealed her coronary arteries were 90 per cent blocked. This surprised her doctors, who ordered an angiogram to give a better picture. The test again showed how severely blocked her arteries were and they decided on surgery.  

Shortly after, in June 2018, Brady underwent a quadruple bypass and is now on cholesterol-lowering statin medications for life.

What was causing all of this in a young, otherwise healthy person?

It turns out that Brady had a genetic high cholesterol condition called familial hypercholesterolemia, or FH.

Dr. Liam Brunham, who is with St. Paul’s Hospital’s Health Heart Program Prevention Clinic, says it’s the most common genetic disease in the world, affecting one in every 250 people. Yet it’s about 90-per-cent under-diagnosed.

No symptoms until problems show up

Dr. Brunham says that is in large part because it has no symptoms until it causes something serious – a stroke or, in Brady’s case, heart disease. It’s not recognized unless someone has cholesterol tests, and even then high cholesterol is still often unrecognized as FH, he adds.

Dr. Liam Brunham, St. Paul’s doctor and researcher

Having a genetic condition is uppermost in her thoughts now, as she will soon deliver her second child at St. Paul’s Hospital. The chances are 50:50 that both children will have it. They’ll be tested later in life.

Her second pregnancy has been made slightly more complicated with the knowledge she has FH, with doctors monitoring her cholesterol levels closely and advising on the medications she can take.

Dr. Brunham, also a principal investigator at the Centre for Heart Lung Innovation, is researching FH patients to improve the understanding of this group, find better ways to identify these patients, and find the best treatment possible for them.

The British Columbia Familial Hypercholesterolemia Registry is the data base for such research.

Public Event to raise awareness is November 2 at St. Paul’s 

Physician and public awareness of the condition is relatively poor and Dr. Brunham wants to change that.

He and members of St. Paul’s Healthy Heart Clinic are organizing an event on November 2, 10 am in St. Paul’s Hospital’s Cullen Theatre.

 It’s for patients and family members with FH and its purpose is to raise awareness of the condition, inform patients about the latest developments in understanding FH, and help build a community of engaged patients who can advocate for better awareness of the condition.

Patients at the forum will be able to share their experience, and some of the hospital’s “patient champions” – like Kelly Brady – will give their own story of life with the condition.

Dr. Brunham says “cascade screening” – or testing relatives of those affected – is hard to do in places like BC because of geography and lack of instructure.

But Brady is taking no chances. She urged family members to get tested and that revealed two cousins, her sister and that sister’s 10-year-old daughter have FH.

Now armed with that knowledge, those relatives can get treatment before the condition gets serious.

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