Familial Hypercholesterolemia: Genetics Can Cause High Cholesterol

April 15, 2013

Brenda Gundell's first introduction to familial hypercholesterolemia (FH) was in the worst way. At 39, her father died of a heart attack. His total cholesterol level was 600—many times over 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 indicators of very high level of cholesterol, accumulating instead of being processed in a classic symptom of familial hypercholesterolemia.

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About familial hypercholesterolemia

Familial hypercholesterolemia statistics

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

What distresses familial hypercholesterolemia specialists like Stanford's Joshua Knowles, MD, PhD, is that while the condition is common and affects over 600,000 in the U.S., it is diagnosed in less than 10 percent of those who suffer from it. The need for heightened awareness of what's behind high cholesterol is clear: Familial hypercholesterolemia accounts for 20 percent of heart attacks in people less than 45 years old. This year, Knowles was named as chief medical officer of the first patient advocacy group for familial hypercholesterolemia in the U.S., 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.

How many people might have familial hypercholesterolemia and not know it?

The condition is believed to be diagnosed in less than 1 percent to 10 percent of those who might have it. The true incidence of FH could be as high as 1 in 200 people. It can be found in people of all races and ethnic groups.

Who should be tested for familial hypercholesterolemia?

  • People with a family member diagnosed with the condition
  • People with a family member diagnosed with premature cardiovascular disease
  • People with a family member who suffered premature cardiac death

Testing recommended to find familial hypercholesterolemia

Shortly after her father's death, Gundell, her sister and her four brothers all had their cholesterol levels tested. She and two siblings all had excessive cholesterol and were diagnosed with familial hypercholesterolemia. It is a genetically linked: If just one parent has the condition, children have a 50 percent chance of inheriting these high cholesterol levels. The familial nature and the serious health consequences of familial hypercholesterolemia 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 familial hypercholesterolemia.

When Gundell was diagnosed, the gold standard for reduction of high cholesterol levels, a family of drugs called statins now standard medication for familial hypercholesterolemia 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, another typical indicator of very high cholesterol levels. "And if it's here," the doctor 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 familial hypercholesterolemia and other similar conditions, including those with genetic links.

How is familial hypercholesterolemia treated?

  • Counseling on diet, physical activity and smoking cessation
  • Statins
  • Lipoprotein apheresis
  • Bile acid-binding resin

What are the medical implications of untreated familial hypercholesterolemia?

  • A 20-fold increased risk of myocardial infarction
  • A 50 % chance of a cardiac event before age 50 in men
  • A 30 % chance of a cardiac event before age 60 in women

Managing familial hypercholesterolemia

Gundell met with Mary Ann Champagne, a clinical nurse specialist and nurse coordinator for the Preventive Cardiology clinic. The clinic helps familial hypercholesterolemia patients with primary prevention—managing risk factors that can lead to illness—and with secondary prevention, to avoid a recurrence of illness. 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 also has worked with Gundell on her non-medication options for high cholesterol, 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 life-long, 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."

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