French Canadian genetic disorder can cause killer cholesterol levels in even the healthiest person

Carl Ouellette had just turned 34 when he had a heart attack.

Looking back, he believes he actually had a series of them: when his arms went numb as he clenched his hockey stick during a game with the guys. When pain shot through his chest and he broke out in a sweat as he tried to move his stuck snowmobile back on the trail.

But the one doctors caught — the one Ouellette’s wife forced him to go to the hospital for — happened while he was at home with his three young children. Outside, taking a break from the chaos indoors, the blood drained from his face. He began sweating. His arms, once again, went numb.

Doctors discovered the Lewiston man had seven blockages in three main arteries. Ouellette underwent a quintuple bypass.

His heart looked like it belonged to an 80-year-old.

“At the time, in my mind, I’m thinking, ‘This is not happening to me,’” Ouellette said. “But it did.”

Doctors like to see cholesterol levels in the 100s. Over 240 is considered high.

Ouellette’s was 425.

He has familial hypercholesterolemia, known as FH, a genetic disorder that causes extremely high cholesterol levels at an extremely young age. His father has it. His sister has it. Two of his nieces, ages 19 and 16, have it and they long ago started taking powerful cholesterol-lowering drugs called statins.

“It’s awkward walking in [to the cardiologist’s office],” said Jill St. Laurent, one of Ouellette’s nieces. “I’m 19, and it’s all 65-year-olds, and they’re all limping on canes. And I’m like, ‘Oh, God, what am I doing in this office?’”

FH families are a rarity in most of America. Not so in Lewiston-Auburn.

FH is found most often in people of Native American or French Canadian descent. In America, experts say, about 1 in every 300 to 500 people has the disorder. Dervilla McCann, a Lewiston cardiologist who has been studying FH for two decades, believes the Lewiston-Auburn area, with its large French Canadian population, has about 10 times the rate of FH as the rest of the country.

That would be 1 in every 30 to 50 people here.

They may not know it. Or, like Ouellette, they may not realize how dangerous it is.

“I was scared as hell,” he said. “I couldn’t believe it. I absolutely couldn’t believe it. I didn’t think it was going to affect me.”

The Franco factor

Although cholesterol is an important building block for cells and many hormones, too much of it can can clog arteries and cause heart attack, stroke or poor circulation.

Normally, the body naturally clears cholesterol from the blood. Significant buildup in the walls of blood vessels can take decades. On average, first heart attacks occur in people in their 60s.

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

New pediatric guidelines call for all children to receive cholesterol screenings by age 11. For children who have a relative with FH, screening is done as young as 2.

It’s common for FH patients to have cholesterol levels above 400. Some have physical signs as well, including yellowish deposits on or around eyelids, called xanthelasmas, and fatty skin deposits on elbows, knees, buttocks and tendons, called xanthomas. (The deposits alone don’t necessarily mean a person has FH.)

Most FH patients must control their diets, exercise and take medication to lower their cholesterol levels. For those with the worst cases of FH and who are debilitated by the medication’s side effects, the only option is a dialysis-like machine. The process can take hours and has to be done two or three times a week.

Because FH is a genetic disorder, it affects certain populations more than others. In Lewiston-Auburn, many FH cases can be traced back to a handful of families that moved south from Quebec in the early 1800s.

The Ouellettes believe their descendants were among them.

L-A: Ground Zero for cholesterol drug trials

Carl Ouellette’s father, Bert, is certain his own father had FH. In his early 30s the elder Ouellette couldn’t walk 300 feet without having chest pains. He died at 32 in a car crash, but Bert doesn’t think his father would have lived much longer than that, considering his chest pains.

“They called it angina,” he said. “At first, for me, they called it angina, too.”

Bert, who lives in Auburn, was in his late 20s or early 30s when he learned his cholesterol level was 500. When he was in his mid-40s, he started having chest pains from walking even short distances.

“I thought I was dying,” he said.

Bert has never had a heart attack, but over the years he has had five angioplasties to open clogged arteries in response to his chest pains. He wasn’t sure he’d make it to 50. Now 70, he attributes his long life in no small way to five medications that lower his cholesterol or otherwise help prevent a stroke or heart attack. He’s tolerated the drugs and their side effects better than many other people, enabling him to take the medications faithfully every day. His cholesterol is down to 171.

“A few years ago, [my doctor] looked at my chart and he said, ‘You know, Bert, all my other patients with your history are dead now,’” Ouellette said.

Elsewhere in the country, cardiologists can go their entire careers without encountering someone with FH. In Auburn, doctors at Central Maine Heart Associates, formerly Androscoggin Cardiology Associates, see FH so often it’s become routine.

McCann, a member of that practice, currently has 10 FH patients. She’s come to recognize the physical signs of the disorder — yellowish deposits around the eye, in particular — even passing someone on the street.

“My first instinct is, ‘Here, here’s my card. Come to my office,’” she said.

The prevalence of FH is one of the reasons the Central Maine Heart and Vascular Institute is considering an intensive program aimed at teaching people who have or are at risk of having heart disease about nutrition, exercise and stress management.

The prevalence of FH has also made Lewiston-Auburn one of the go-to places in the world for cholesterol drug trials. FH patients here were involved in some of the first trials for Lipitor and Crestor, now-popular statins. Recently, Maine Research Associates in Auburn has been working with FH patients to test cholesterol-lowering vaccines and to complete a genetic study on FH. That study will look at 400 subjects in two countries. Under Maine Research Associates’ contract, up to 40 can come from Lewiston-Auburn. That’s 10 percent of the subject pool.

“The people who have it are very aware that they have FH and are usually very interested in helping because they know their family could be affected,” said Debbi Murphy, a clinical research coordinator at Maine Research Associates. “Their family might be in the future helped by some of the research we’re doing, so they’re very willing to participate.”

On medication at 10 years old

That’s one of the reasons Doreen St. Laurent, Carl Ouellette’s sister, participated in the vaccine trial over the summer. She has FH, as do two of her three children, including 19-year-old Jill St. Laurent.

“It breaks your heart that you passed that along to your kids,” she said. “But the good thing for my children is I practice what I preach. I’m telling my kids, ‘You need to exercise; you need to be active.’ They see me doing that.”

St. Laurent was a teenager when she learned she’d inherited FH from her father. She was in college when she started taking medication to try to get her 375 cholesterol level down to something closer to normal. Now 45, she takes a statin, eats a vegan diet and makes cardio exercise a priority in her day.

Even with the medication and lifestyle, her cholesterol level still hovers around 220. But St. Laurent has never had angioplasty, like her father, or a heart attack, like her brother.

Carl Ouellette admits he didn’t take care of himself as well as he should have when he was younger. He too was a teenager when he found out he’d inherited FH from his father. But unlike his sister, he smoked, didn’t take medication and didn’t pay much attention to his diet. He was young and active. He didn’t feel sick.

“I did everything I probably shouldn’t have done,” he said.

That’s not unusual.

McCann has been seeing FH patients for so long that the children of some of her FH patients are now young adults. Some see her or another cardiologist as soon as they’re past puberty. Others don’t.

“Because, when you’re 21, nothing bad will ever happen to you, so there’s no fear,” McCann said.

St. Laurent’s daughter, Jill, was 10 when she started taking cholesterol-lowering medication, mixed into her morning orange juice. She didn’t really understand what it was for.

“I just thought it was annoying, mostly because it was so gross,” she said. “But it didn’t impact my life other than that. I didn’t really understand it when I was 10. I didn’t understand the implications.”

She was about 16 when she realized what FH would mean for her life. Now a sophomore at Bryant University in Rhode Island, she takes a statin every day, watches what she eats and is part of a dance team, which keeps her activity level high. Despite all that, her cholesterol levels are still in the low 300s. It scares her.

“But I’m doing all that I can,” she said. “What else can I do?”

A vaccine on the horizon?

Her uncle wonders about that, too. For the past six weeks, Carl Ouellette stopped his medication and focused on exercise and a strict vegetarian diet comprising mostly raw food. At 44, he’s 10 years past his heart attack, and he can’t forget how his doctor at the time told him he’d likely need another surgery in 10 years. Right around now. He hasn’t been feeling as well as he should. He’s desperate to get his numbers down.

He had blood drawn a few days ago. His cholesterol had jumped from 151 to 282.

“They were so high I almost started crying,” he said. He immediately went back on the medication.

Doctors see some hope in new cholesterol medications in the works, including the vaccine currently on trial in Auburn.

“So far, it looks terrific,” said Dr. Robert Weiss, a cardiologist and CEO of Maine Research Associates. Although it’s still early in the trial phase, Weiss has seen the vaccine lower LDL, the bad cholesterol, by about 75 percent or more.

If approved, the shot could appear on the market in the next few years. Patients would self-administer it once a month.

Whether that drug or another gets approved, doctors say current medications can help. But people need to find out whether they have FH. And they need to get help for it.

“It’s treatable, but only if you treat it,” Weiss said.

Bert Ouellette tries to get the word out. As a real estate agent with ERA Worden Realty in Auburn, he meets a lot of people every day. He isn’t shy about handing out photocopied sheets explaining FH. He keeps a stack of them in his office.

At 70, he’s beat the odds, and he wants others to as well.

“Get tested,” he said. “That’s the big thing if you’re Franco-American.”