There are a variety of genetic disorders that affect how the body makes lipids. In terms of heart disease risk, the most detrimental lipid disorders increase LDL levels and decrease HDL levels. The majority of these disorders are caused by a few problematic genes combined with environmental factors such as obesity or a diet high in saturated fat.

As far as treatment goes, it doesn’t matter if your high cholesterol is caused by problematic genes or not. Medication and lifestyle changes are still prescribed based on your HDL and LDL levels. However, the discovery of these genetic problems has greatly increased researchers’ understanding of lipoproteins and cholesterol.

A family history of heart troubles can increase anyone’s risk for heart disease, but for people with a gene mutation that causes extremely high cholesterol levels—and at an early age—it nearly guarantees it. Nearly. Kelly’s father died of a heart attack at twenty-eight, before she was born.

A police officer, he collapsed while trying to break up a fight. An autopsy showed that three of his coronary arteries were nearly 80 percent blocked—an unusual circumstance in such a young man. Kelly’s mom is a nurse, and despite the reluctance of her doctors, she had Kelly’s cholesterol tested when Kelly was one year old.

The sobering result: Kelly’s cholesterol was 350. The pediatricians hadn’t dealt with such a high cholesterol level in a child so young, and so they referred Kelly to a specialist. Early treatment consisted of a low-fat, low-cholesterol diet. “It wasn’t nearly as bad as people might think,” says Kelly. “My mom modified recipes, even for baking, and I would eat ‘treats’ occasionally, like pizza or cake at a birthday party.

I was also very active, playing soccer, softball, taking dance classes, and swimming a lot in the summer. My mom really encouraged this, too.” While Kelly’s mother had special motivation to be so vigilant, it’s a good lesson for all parents. “In some ways, it was good to have to adopt a healthy lifestyle so early,” she says.

“It would be very hard to suddenly have to start eating a certain diet and develop the exercise habit.” In elementary school, Kelly started taking the cholesterollowering medication Questran, which had to be mixed into a beverage. Kelly recalls, “It tasted horrible and I usually took it during school, so it made me feel ‘different’ from other kids.”

Her mom decided against trying niacin, which is used to lower cholesterol, because of the side effects, but as a teenager Kelly did take the herbal supplement Cholestin, which helped somewhat. I first saw Kelly when she was eighteen years old, and our initial step was to try one of the statins.

This step produced a dramatic improvement in her cholesterol—better results than we achieved with other drugs. I recently switched Kelly to the statin Lipitor, starting at a lower dose and working up to 80 mg/day. She took time off from her medications when pregnant and breastfeeding, but overall she has had no side effects and is looking forward to continued good results.

Kelly has familial hypocholesterolemia, specifically Frederickson type IIa. This condition is usually due to a mutation in the LDL receptor, although there are at least two other genetic mutations that could cause the same picture. Kelly’s LDL is quite high, but her HDL is in a very healthy range, and she’s never had a problem with high triglycerides.

Her daughter, who is seven, shows no signs of cholesterol problems, but her two-year-old son’s cholesterol is about 260, with a relatively low HDL level. Kelly, like her mom, is a nurse and knows what she needs to do to protect her health and that of her children.

But she is quick to point out that she leads a healthy lifestyle not only to keep her cholesterol in check. She also wants to stay healthy and live a long life for her kids and husband. And she wants to set a good example along the way. “It can be difficult sometimes. Things get hectic with a job and raising a family.

Occasionally when things get crazy, I think how easy it would be to pick up dinner at a fast-food joint. And once in a while, I do, but fast food isn’t part of our lifestyle.” Although she doesn’t “worry” about it, Kelly knows that heart disease is still the leading cause of death for women.

That knowledge almost seems inescapable based on news reports and even the ads for cholesterol-lowering drugs. Still, she says that she feels good about taking all the necessary steps to protect her heart health. “I tell my daughter that there’s nothing wrong with my heart but that I have to see a specialist regularly to check up on it to keep it healthy.”

Her mom—and stepdad—continue to play an active role in looking after Kelly’s heart health and that of her children. The loss of Kelly’s dad is tragic. Fortunately, her mom put two and two together and helped set Kelly on a healthy path that is likely to steer her away from heart problems and makes it less likely that one terrible family “tradition” will be carried forward.