French-Canadian disease prompts U.S. warning

Some U.S. doctors are urging patients to get tested for a potentially deadly genetic disease they say was passed down from French-Canadian forefathers.

Some U.S. doctors are urging patients to get tested for a potentially deadly genetic disease they say was passed down from French-Canadian forefathers.

The hereditary ailment causes dangerously high cholesterol levels and is particularly prevalent in certain parts of Quebec.

Maine cardiologist Dr. Robert Weiss said there is an unusually high number of cases of the disease in the Lewiston-Auburn region, which welcomed waves of French-Canadian migrant workers in the late 1800s.

Weiss encourages area residents with francophone ancestors to get tested for familial hypercholesterolemia (FH) -- even if they have no family history of cholesterol problems.

To spread the word, he and some colleagues even hosted an information session on the disorder titled, "The French Connection," during a local Franco-American festival.

"When they're the children, or grandchildren or great-grandchildren of these people, they should be checked as part of their normal exams as they grow up," Weiss said in an interview from Auburn, about 50 kilometres north of Portland.

"We'd like people to get checked when they're five years old."

Physicians have treated patients with FH for decades and, over the years, it has become increasingly treatable with medication.

But Weiss noted there's still an awareness vacuum about a disease that can cause arteries to harden in those who are physically fit -- even in teenagers.

A colleague of Weiss told a Lewiston newspaper that the rate of the ailment is 10 times higher in the area than elsewhere in the United States.

"You'll see people in their 40s -- even in their late 30s -- who will have actual heart attacks, not just warning signs, but actual events," said Weiss, a practising cardiologist who has conducted clinical research on FH for 25 years.

Battling the disorder

Maine's Ouellette clan knows this all too well.

Bert Ouellette, who has FH, recalled how his cholesterol level registered at 500 milligrams per decilitre when he was in his late 20s. The American Heart Association considers a score of 240 to be high.

The Auburn resident, now 70 years old, has had several medical procedures to unclog arteries and he's been taking medication to keep his cholesterol in check for decades.

Ouellette has many relatives who have also battled the disorder, including his daughter and his two granddaughters -- who have both been on medication since they were preteens.

The former hockey player said his athletic son, Carl, survived a heart attack a few years ago.

"He almost died -- he had five bypasses when he was 34 years old," said the elder Ouellette, who himself swallows $1,500-$2,000 worth of meds every month.

"Believe me, I never thought I'd reach 50 years old and now I'm 70, because of the medication."

Ouellette's family roots trace back to Quebec where, in some areas, the rate of FH is more than six times higher than the worldwide average, says Quebec City physician Patrick Couture.

Couture recommends that all people with FH -- even children as young as 10 -- take medication to control their bad cholesterol because regular exercise and a healthy diet just aren't good enough.

"Without medication, I would say it's impossible to bring cholesterol down to a normal level," he said of those with the disease.

There are two forms of FH: heterozygous and the rarer, more serious homozygous.

Couture said people with the heterozygous type usually have bad cholesterol levels two to three times higher than normal. Those with homozygous FH have levels six to eight times more than average, he added.

His clinic has around 500 people with FH, 20 of whom have the homozygous type.

Researchers like Couture believe FH, which is caused by a genetic mutation, was introduced to Quebec hundreds of years ago by an early settler from France.

Couture believes the disorder was common in isolated corners of the province because, historically, people had big families and travelled infrequently.

"You didn't find the girl that you married on the other side of the world, often you married the girl from the place next door," he said, adding the chances the gene was passed down were relatively high.

He noted that high rates of the disease are found in other pockets of the world, including northern Finland and parts of Tunisia and Lebanon, particularly among the Christian population.

In Quebec, he said FH is far less common in multicultural Montreal -- where the rate is similar to the worldwide prevalence of one in 500 people -- compared to more isolated regions in the northeast like Iles-de-la-Madeleine, where the rate is about one in 80.

Keeping the culture alive

Back in Maine, physicians hope to put an end to the health risks caused by the FH family tradition.

Ironically, it comes at a time when locals are working hard to keep the cultural and linguistic ties to French Canada alive.

Weiss said Lewiston's French-language newspaper shuttered its doors in the 1980s, while the area's largest cathedral now has been reduced to just one French church service on Sundays.

But the historical links are maintained through museums and annual festivals.

"That population is winding down and the grandchildren might understand French, but not speak it," said Weiss, who moved to the area from New York in 1985.

"(The festival) tries to help people connect to their roots, and I think those are important -- and maybe they should do a cholesterol (awareness) part of it."