Familial Hypercholesterolemia: Family Stories

At a glance

Read personal stories from people with familial hypercholesterolemia.

Tom and his daughter, and Rhiannon

Tom's story

Tom with his daughter
Tom talks about his history of familial hypercholesterolemia.

"Through a cascade of screening and appropriate early treatment, we hope to lift the burden of FH from the new generation."

My mother knew she had a family problem with cholesterol. Several of her aunts and uncles died of heart disease, and she had high cholesterol and a corneal arcus around her eyes. But, it was the 1940s and there was little they could do about it. The doctor could only recommend a low fat diet and exercise. I was aware of a family risk by the time I was in my 20s, and confirmed that my cholesterol level was high. Further confirmation of the seriousness of the problem came with a brother's heart bypass surgery at the age of 29 and with the detection of high cholesterol in my two other brothers. This was before the time of statins. Medicine could offer us little more than it had been able to offer our uncles.

At least we were aware of the existence and hereditary nature of our problem and now we know its name: Familial Hypercholesterolemia (FH). We did whatever we could with diet and exercise, and advances in surgery helped. Among five siblings, we have survived six heart attacks, six bypasses, a stenting, and a balloon angioplasty. We are all still alive and active.

Along the way, better control measures arrived. I began taking a statin within a couple of months of the availability of the first statin. My siblings did the same, and our total cholesterol and LDL levels are now well controlled. But in the time before effective treatment, much damage was done. So now we must look to the health of our children and grandchildren, and apply all the knowledge and techniques at our disposal to protect them.

Because we have long known of the hereditary nature of our high cholesterol, my three children have been screened. All are affected, and so they take measures to control their cholesterol levels. But they have been able to start those control measures at a much earlier age than could I, and consequently they stand a much better chance of achieving effective protection. Now their children are being screened, and treatment of those that are affected with FH is being started even earlier. Through a cascade of screening and appropriate early treatment, we hope to lift the burden of FH from the new generation.

Rhiannon's story

Rhiannon is smiling
Rhiannon writes about living with familial hypercholesterolemia.

"I feel extremely fortunate that I found out about my FH before something major happened to me, and I hope to avoid heart disease with prevention."

My father had his first heart attack at age 36 and died from one at 51. I had thought his problems were due to lifestyle. He was a smoker and didn't have the healthiest diet. Imagine my surprise when I saw my cholesterol screening results from a life insurance blood test. I was 30 years old, and my LDL, the "bad cholesterol," was nearly three times higher than expected for a woman my age! I had never had my cholesterol checked, because I had always heard that diet and exercise were enough to manage it. It just wasn't supposed to be a problem with someone who is young, active, doesn't smoke, and isn't overweight. Right? Wrong. And, boy, was I wrong.

My doctor recommended I visit a cardiologist, who in turn referred me to a lipid specialist. I found out I have heterozygous familial hypercholesterolemia. I'd never heard of it before and immediately assumed the worst. Would I have a heart attack and die at a young age like my dad? I was terrified that I would miss out on my then 2-year-old daughter's milestones.

These days, things seem brighter. Working with my lipid specialist, I've learned how to manage my cholesterol through medicine, diet, and exercise. I get my blood checked regularly. I take the highest possible dose of my statin every day, and we recently added a bile acid sequestrant. I have a very active lifestyle with almost daily workouts, including Jazzercise, walking, bellydancing, and yoga. Last year, I logged 201 Jazzercise classes—no small feat! I follow a mostly Mediterranean diet: lots of fruits and vegetables, healthy fats, and lean meats.

It isn't always easy, as life is hectic. My husband Tommy and I have two children, I have a full-time job, and I'm a leader for my daughter's Girl Scout troop. However, the hard work is paying off.

At my most recent check-up, my cholesterol numbers were the best they have ever been. My LDL is down to 126—still borderline high, but almost normal. My HDL, the "good" cholesterol, is incredibly high—70! I was so happy to hear this news that I almost cried in the doctor's office.

I am doing everything I can to stay healthy, because I want to be here for my family. I feel extremely fortunate that I found out about my FH before something major happened to me, and I hope to avoid heart disease with prevention. Many people with FH never find out they have it until it's too late, which is why I talk about FH to my friends and family often and encourage everyone I know to get their cholesterol checked.


Read more personal stories from people living with familial hypercholesterolemia.