Patient manages genetic high cholesterol with nurse's help

Norbert von der Groeben

Mary Ann Champagne, left, a clinical nurse specialist at Stanford Hospital & Clinics, has worked with Brenda Gundell to manage her familial hypercholesterolemia, a genetic disorder, for more than 15 years.

Brenda Gundell's introduction to
familial hypercholesterolemia came in the worst way.

At 39, her father died of a heart attack. His total cholesterol level was 600 — triple what's deemed to be a healthy level. Gundell, who was just 15, remembers the small, wart-like lumps that pillowed out the skin near her father's eyes, elbows, knees and heels. She learned later that those lumps, called xanthomas, were cholesterol, accumulating throughout his body instead of being processed.

While cholesterol is a natural and necessary part of the body's chemistry — it's crucial to cell membrane function — genetic mutations can alter how it is eliminated from the bloodstream. Familial hypercholesterolemia affects cholesterol processing from birth, spreading through the cardiovascular system so pervasively that over the course of a lifetime the toll on arteries means that men with FH have a 50 percent chance of having a heart attack by age 50. Women with FH have a 30 percent chance of heart attack by age 60.

What distresses FH specialists like Stanford's Joshua Knowles, MD, PhD, is that while the condition is common and affects over 600,000 in the United States, it is diagnosed in fewer than 10 percent of those who suffer from it. The need for heightened awareness is clear: FH accounts for 20 percent of heart attacks in people younger than 45. This year, Knowles, who is also an instructor of cardiovascular medicine at the School of Medicine, was named as chief medical officer of the first FH patient advocacy group in the United States, the FH Foundation. He sees patients like Gundell, under care for the last 17 years at Stanford Hospital & Clinics' Preventive Cardiology Clinic, as examples of the best way to live with such a destructive, yet easily treatable, condition.

Shortly after her father's death, Gundell, her sister and her four brothers had their cholesterol tested. She and two siblings had excessive cholesterol and were diagnosed with FH. FH is a genetic condition: If just one parent has it, children have a 50 percent chance of inheriting the disorder. The familial nature and the serious health consequences of FH have placed it on the Centers for Disease Control and Prevention's tier-1 list of conditions for which testing is recommended, in particular at an early age for children of adults diagnosed with FH.

When Gundell was diagnosed, the gold standard for cholesterol reduction, a family of drugs called statins, had not yet been introduced and she took a different kind of medicine. "I really didn't like taking the medicine, but I would take the medicine and have the blood tests. I stuck with it for a long time," she said. After some time, however, she stopped. "I said, 'Well, I don't see it. I don't feel it. I'm okay.'"

She went on with her life, trained as a first-grade teacher and married. Then, at 39, an age that resonated with her, a pain in her elbow sent her to the doctor. At first, she thought it might be cancer. She was prepared for that. Instead, her doctor told her that the painful lump was calcified cholesterol. "And if it's here," he said, referring to her elbow, "it's everywhere." He also said he was referring her to Stanford, which had become known for its study and treatment of FH and other similar conditions, including those with genetic links.

Gundell met with Mary Ann Champagne, a clinical nurse specialist and nurse coordinator for the Preventive Cardiology Clinic. The clinic helps patients with primary prevention — managing risk factors that can lead to illness such as heart attack and stroke — and with secondary prevention, to avoid a recurrence of those kinds of cardiovascular events. In Champagne, Gundell found someone with whom she could be completely honest. "I told her, 'I'm afraid. I know I need to make changes. How can we work together so I'll keep coming back?'"

Said Champagne, "We're going to take it slow. We're going to have you take a medicine. We'll have you get used to it, and if we need to, we'll adjust it. Then we'll add another one, if we need to, and adjust it."

And that's the way it's gone for more than 15 years. Champagne has worked with Gundell on her non-medication options, too: Between Gundell's attention to what she eats, and the arrival of two family dogs that needed to be walked every day, Gundell has upped her physical activity level and lost 70 pounds. "It took a while for me to accept that this is lifelong, but it is. I feel my life is valuable and I value myself, my life and what I'm doing. I want to live a long time."