First Canadian guidelines on inherited high cholesterol aim to save lives and
prevent heart disease
Early recognition and treatment can essentially eliminate the risk from common
genetic disorder which leads to premature heart disease and cardiac death
EMBARGOED UNTIL 12:01 a.m. EDT, OCTOBER 28, 2014
(VANCOUVER) ─ Canada is taking major step forward in the recognition and early
treatment of a genetic disorder that leads to premature heart disease and cardiac
death with the establishment of a national registry and family screening program for
familial hypercholesterolemia (FH), or inherited high cholesterol.
The national initiative on FH stems from a position statement and recommendations
announced by the Canadian Cardiovascular Society (CCS) today at the Canadian
Cardiovascular Congress.
“This is a vital initiative because inherited high cholesterol, if not detected, can lead
to severe cardiac disease and death at an early age, but if detected early it is so
eminently treatable you can essentially normalize the patient’s cardiovascular risk,”
says cardiologist Dr. Jacques Genest of the McGill University Health Centre in
Montreal, co-chair of the CCS panel that developed the position statement. “The
benefits to patients and their families, as well as the cost savings over the long run,
are astonishing.”
Genetically high cholesterol is a condition which results in high cholesterol levels in
the blood. Unhealthy cholesterol levels increase your risk for stroke and heart
disease, as well as atherosclerosis, the narrowing of coronary arteries which causes
more than 90 per cent of heart attacks.
It is estimated that at least 83,500 Canadians have inherited high cholesterol, but
about 90 per cent are not diagnosed or followed, says Dr. Genest. The CCS
statement calls this “a simultaneous public health deficit and opportunity.”
Unlike the millions of Canadians who gradually develop high cholesterol levels as
they age, people with FH have substantially increased risk of cardiovascular disease
early in life, but generally don’t know about it.
If undetected and untreated, it can result in major or fatal cardiovascular events in
people as young as their 20s. However, if FH is detected early, current treatments
are very effective at lowering a patient’s risk to normal levels.
The goal of the new recommendations are to increase awareness of inherited high
cholesterol and in turn improve early detection and treatment. Suspicions should be
aroused when a patient has a personal or family history of premature cardiovascular
disease and/or significant high cholesterol, particularly at a young age. Diagnosis of
FH can then be confirmed by genetic testing.
An important recommended follow-up to a new diagnosis is “cascade screening” –
the testing of the patient’s family members to see if they too have the disorder.
“Cascade screening is a very cost-effective way to identify people with FH and treat
them early,” said Dr. Genest. “It has proven very effective in places like The
Netherlands which has been doing this for many years, and is much more cost
effective than mass population screening.”
The new national registry of FH patients will also help track known families with the
disorder and identify others potentially at risk. CCS members have assisted in the
establishment of 17 clinics across Canada that will pool information and work to
uniform standards. This network builds on the pioneering work by cardiologist Dr. Jiri
Frolich of St. Paul’s Hospital in Vancouver where he established an FH registry in
2012.
FH is a particular problem for French Canadians, with an estimated 29,000 in Quebec
with the disorder.
Most people with FH have what is called heterozygous FH, but there is a rarer and
even more serious form, homozygous FH, that is particularly crucial to identify. Its
prevalence is estimated at just one in one million people and it is usually seen in
children when both parents have FH. The statement notes that these patients are at
extremely high risk for cardiovascular disease and should be identified and evaluated
before they are two years old for optimal treatment and prevention.
Experience from The Netherlands and the United Kingdom in taking similar steps to
find and treat those with FH has been very positive. In The Netherlands, cascade
screening has yielded an average eight new cases per family, resulting in treatment
starting at age 37 on average. This has led to a virtually complete elimination of
excessive cardiovascular disease in these patients, but interestingly has also resulted
in less illness and death from other diseases, particularly cancer, due to the lifestyle
counselling patients receive. Similar benefits have been seen in the UK.
The co-chair with Dr. Genest of the CCS primary panel for development of the
position statement on FH was Dr. Robert Hegele of the University of Western Ontario
and Robarts Research Institute in London, Ont. Fifteen other practitioners from
across Canada served on the primary panel and the secondary review panel had 12
members.
“The Canadian Cardiovascular Society publishes five to seven guidelines and position
statements annually,” says Dr. Michelle Graham, CCS guidelines committee chair.
“These statements would not be possible without the dedication of our internationally
recognized experts who volunteer their time to produce these rigorous, evidencebased documents.”
Creating survivors
Because 36-year-old Rowena Dagley had been closely monitoring her heart since
being diagnosed with inherited high cholesterol in her early 20s, she is a survivor.
At a checkup at a Healthy Heart Program Prevention Clinic in Vancouver, she
mentioned to Dr. Gordon Francis, the head of the clinic, that she was feeling
exhausted, had some shortness of breath and pain in her jaw and arms. Dr. Francis
immediately sent her to the emergency room, where it was found that two of her
major arteries were 90 per cent blocked. A massive, potentially fatal, heart attack
was imminent.
Rowena had surgery to implant two stents to open her blocked arteries and is still on
the road to recovery. “I always knew I had high cholesterol but I was not expecting
my arteries to be that bad,” she says. She pays particular attention to the things she
can do to protect her heart health: living a healthy life, including running regularly,
and eating a healthy diet full of vegetables.
She is thankful that testing has also diagnosed inherited high cholesterol in her 12year-old daughter, who is now also getting treatment and follow-up so she, too, can
live a long and healthy life.
The Canadian Cardiovascular Congress is co-hosted by the Heart and Stroke
Foundation and the Canadian Cardiovascular Society.
-30About the Canadian Cardiovascular Society
The Canadian Cardiovascular Society is the national voice for cardiovascular
physicians and scientists. Its mission is to promote cardiovascular health and care
through knowledge translation, professional development, and leadership in health
policy. ccs.ca
About the Heart and Stroke Foundation
The Heart and Stroke Foundation’s mission is to prevent disease, save lives and
promote recovery. A volunteer-based health charity, we strive to tangibly improve
the health of every Canadian family, every day. Healthy lives free of heart disease
and stroke. Together we will make it happen. heartandstroke.ca
For more information and/or interviews, contact the
CCC 2014 MEDIA OFFICE AT 778-331-7618 (Oct 25-28).
Amanda Bates
Curve Communications
amanda@curvecommunications.com
office: 604-684-3170
cell: 604-306-0027
Gina Vesnaver
Curve Communications
gina@curvecommunications.com
office: 604-684-3170
cell: 604-317-6129
Congress information and media registration is at www.cardiocongress.org
After October 28, 2014, contact:
Jane-Diane Fraser
Heart and Stroke Foundation of Canada
jfraser@hsf.ca, (613) 691-4020