No matter how you look at them, the numbers are alarming.

It’s commonly believed that one in 250 people is afflicted with familial hypercholesterolemia, a genetic disorder that causes extremely high cholesterol levels at an extremely young age.

Roughly 90 percent of those afflicted have not been diagnosed. If untreated, a person suffering is 20 times more likely to develop heart disease and there’s a 50 percent chance that his or her children will inherit the disorder.

If the condition is left untreated, men with FH have a 50 percent increased risk of heart attack by age 50, and women have a 30 percent increased risk by age 60.

Given that FH is 10 times more common in French Canadians — of which there are many in Maine and in Lewiston particularly — there seems to be plenty of reason to worry.

But there are also reasons to feel more at ease about the disorder than one might have, say, five years ago.


“A lot of exciting things have happened,” says Cat Davis Ahmed, vice president of policy and outreach at the FH Foundation. “There’s so much you can do about it now. There’s so much you can do to prevent heart disease.”

Ahmed was at the Muskie Archives at Bates College on Friday night to talk about FH. Also on hand was cardiologist Dervilla McCann, Central Maine Medical Center’s chief medical officer, who helps oversee a regional registry at CMMC of those who have tested positive for the condition.

McCann has been studying FH for two decades and believes that in the Lewiston-Auburn area, roughly one in 67 people may suffer from FH.

While the disorder can easily be treated once detected, McCann said, too few people have heard of the disorder, and that includes those within the medical community.

“There is a lack of awareness,” McCann said, “on every level.”

For people with FH, the body’s cholesterol-clearing system doesn’t work properly and cholesterol builds up quickly. For people who inherit one FH gene, first heart attacks can occur at 40 or 50, according to medical experts. For people who inherit two copies of the FH gene — one from each parent — heart disease can begin in childhood.


Ahmed and McCann would like to see more children between the ages of 9 and 11 getting tested for high LDL cholesterol.

“It’s very important,” McCann said, “that we diagnose this disorder early in childhood.”

Ahmed and a frightening number of her family members suffer from FH. She was in high school when the disorder was diagnosed in her family after her uncle Phil had to undergo bypass surgery — at the age of 29.

Her uncle’s three brothers were also found to be suffering from FH. Ahmed’s two sisters are likewise afflicted as is one of her daughters. Her father suffered a heart attack at the age of 57 while playing tennis.

But as much as she’s surrounded by the disorder, Ahmed is quick to point out that it’s by no means a death sentence. She and McCann insist that with early detection, FH can be easily managed with medication, lifestyle changes or therapies to lower LDL.

“Generally,” McCann said, “your primary doctor can manage you.”


New medications have become available in recent years. Those who study FH are attempting to learn more about the disease by tracking populations that are most commonly afflicted, which also includes Ashkenazi Jews, Lebanese and South African Afrikaners.

CMMC’s registry has more than 200 patients listed, according to a news release, and at one time was the most rapidly enrolling site of 40 such registries nationwide. The registry data is kept at Duke University’s Institute for Clinical Research as a national database.

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Central Maine Medical Center’s Dervilla McCann reveals some facts about familial hypercholesterolemia to a group gathered Friday night at Bates College in Lewiston. (Mark LaFlamme/Sun Journal)

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