She was with friends at a restaurant when the sweats suddenly hit her. That’s all it was, just sweating. A hot flash, perhaps? “We were joking that ‘40 is the new 60’ and this was the world’s biggest hot flash! For about 25 minutes, I was uncomfortable but not enough to go home,” said Wenter Blair, describing those odd sensations just a few years ago. “I got back to the house later, and I was still thinking it was just a hot flash … the next morning I got up and called my OB/GYN, and she said she wanted me in the office right now. So I went in — she met me at the front door and immediately hooked me up to an EKG machine. When it was done, she said, ‘Honey, you had a heart attack last night.’”
It took three more heart attacks, several heart procedures and the insight of a leading cardiologist to get to the bottom of what was really wrong with Wenter Blair: She has familial hypercholesterolemia, better known as FH. Blair, the co-founder and a member of the Founding Board of Directors of The FH Foundation, has taken her frightening experiences and turned them into a major cause: educating all who need to know about the very real threat FH poses to their lives.
Let’s start with cholesterol. Cholesterol is absolutely necessary to life. Your cells use this fat-like, waxy substance to repair and make more cells, among other essential purposes. Your body makes cholesterol naturally, and you may get more cholesterol from the food you eat — in particular, animal products, such as meats, dairy, eggs and other types.
According to the U.S. Centers for Disease Control and Prevention (CDC), some 71 million American adults have high LDL-cholesterol, and only about one-third have it under control. But what does it mean to have “high cholesterol”? There are three main types of cholesterol:
When people say “I have high cholesterol,” they’re usually talking about their LDL-cholesterol level. Although different guidelines disagree about what a healthy level of LDL-cholesterol is, the National
Cholesterol Education Program (NCEP) recommends that a level below 100 mg/dL is considered ideal for people who are not at high risk for cardiovascular disease, while less than 70 mg/dL is better for people who are. Your doctor will determine your cholesterol level with a test called a fasting lipoprotein profile. For this simple blood test, you’ll need to fast for a period of time before having your blood drawn — usually 8 hours.
The first line of treatment for high LDL-cholesterol is usually making diet and lifestyle changes. This means eating a heart-healthy diet:
Physical activity is also part of a cholesterol-lowering lifestyle change plan. You should try to get at least 30 minutes of moderate-intensity aerobic activity 5 days per week, or at least 25 minutes of vigorous aerobic activity 3 days per week. Talk with your doctor before starting or changing your exercise pattern.
For people whose cholesterol can’t be adequately controlled with diet and exercise, medication may be necessary. The first line of medication therapy is usually statins — a type of medication that helps the liver process and remove LDL-cholesterol from the bloodstream.
If you think of the many Americans who have high levels of LDL-cholesterol, think of those with FH as the extreme of that population. Not much was known about FH until around 40 years ago, when two Dallas cardiologists, Dr. Michael S. Brown and Dr. Joseph L. Goldstein, identified the genetic cause of FH.
People with FH have very high total and LDL-cholesterol levels — typically greater than 300 mg/ dL (total) or 220 mg/dL (LDL). About 1 in 500 people have FH (the National Lipid Association believes that number may be as high as 1 in 250), but according to the FH Foundation, only around 10 percent get diagnosed and treated.
For people with FH, the usual high-cholesterol treatment program starting with changes to diet and exercise patterns usually doesn’t work. The reason is that the liver of a person with FH isn’t functioning properly, failing to remove LDL-cholesterol from the bloodstream at an adequate rate—or at all.
This is a huge concern. People with FH are at very high risk of getting cardiovascular disease at very early ages —as young as in their 40s. For people with two particular faulty genes (known as homozygous FH), it
can be even more devastating. They can experience cardiac events as young as in their late teens or early 20s. That’s why it’s critical that people with FH get diagnosed as young as possible and started on therapy immediately upon diagnosis.
For Wenter Blair, finding out she had FH was an arduous process. After her OB/GYN diagnosed her heart attack, she was referred to a cardiologist. “She literally called me a cardiologist right then and they waited for me to arrive. That doctor looked at me and said, ‘No way you’re a heart patient. You’re in great shape,’” Blair said. “I learned that that’s how a lot of women present with a heart attack — it’s not the typical ‘heart attack’ scenario. My media education was that high cholesterol people were slovenly and obese, and that just wasn’t me. I’d run a 10k two weeks before my heart attack.”
But Blair did indeed have FH, as she later learned — and that took time. Finally, she wound up getting a heart procedure done. “I ended up with 5 stents and still had no diagnosis, just knew I had crazy high cholesterol and was on a high dose of statin, with all the problems that brought with it. It was just crazy,” said Blair. “People were convinced I was going to die, and the children were so worried — calling me all throughout the day to check in on me, that sort of thing. It went from ‘Mom can do anything’ to ‘Mom is totally fragile.’”
Enter Dr. Helen Hobbs, the renowned geneticist at the University of Texas Southwestern Medical Center in Dallas. “So it’s just before Christmas, and a friend of mine told me that Dr. Helen Hobbs was working on a Dallas Heart Study. We called her and she had me come in, and told me immediately that I have FH.
‘What’s that?’ I asked. She wanted to bring me into the heart study, and needed all my blood relatives — who just happened to be in town for Christmas. It was God at work again!
“So I was tested, and she told me the results were in — I have FH and my son Christian has FH. My daughter did not. So I said, ‘God, let me save my son.’” Blair took her son to see Dr. Sarah Blumenschein, who had Christian get a lipid profile. The result? “My son Christian is a very competitive ice hockey player, and his LDL was 253 — this was a kid who lived in my heart-healthy home and was in great physical condition,”said Blair.
Christian was immediately started on a pediatric dose of statin therapy. “Christian’s LDL is now 112 and we have 100 percent eliminated his heart and stroke threat from his future,” said Blair. “It cost me $4 a month to get his prescription, to save my child’s life.”
When Christian converted to ice hockey after a skiing trip to Banff in Canada, it led to another “God moment” for Blair. It turned out that the wife of Christian’s ice hockey coach was a pharmaceutical company recruiter. “Within days I was talking with a Genzyme patient advocate and that’s how everything got started … all because my son insisted on playing ice hockey.
“Now there was a head of steam around the issue. One thing led to another, and Kynamro is the name of the new drug, which is approved for homozygous FH,” said Blair. “We also have PCKS9 protein inhibitors in FDA drug trials, too, where we had nothing before.”
But there was still a problem, at that point, in Blair’s eyes: a lack of information on FH. That stirred her and several others to co-found the FH Foundation, the first-of-its-kind advocacy group and information clearinghouse on FH. It’s mission: to educate the public about the dangers of FH and emerging hope for new treatments.
“Many doctors don’t know about FH, but that’s changing. The American College of Cardiology a couple of years ago did a presentation on FH — ‘Familial Hypercholesterolemia, and You Thought There Was Nothing New,’” said Blair. “If someone is diagnosed with FH, everyone needs to be tested in the family — everyone is under threat, even if they’re apparently perfectly healthy. Everyone needs to have a lipid panel done, they need their lipid numbers.”
Blair has one major message for everyone: “FH is not curable, but it is 100 percent treatable if caught at the pediatric stage,” she said. “High cholesterol is not benign. It’s a fit-as-a-fiddle person’s issue. It’s a child’s issue. It is absolutely necessary to save these children’s lives.”