Toddler’s rare condition highlights need for universal cholesterol screening in kids

The Thompsons: Austin, Sean, Kennedi and Angelina (Chris Kirzeder)

When Kennedi Thompson started developing xanthomas – fatty deposits that appear as white, raised bumps on the skin – her parents initially thought she was having an allergic reaction.

It turned out the xanthomas were a sign of dangerously high cholesterol for the toddler. Kennedi was just two years old when she was diagnosed with familial hypercholesterolemia.

Tests indicated Kennedi’s total cholesterol levels were 800 mg/dL and LDL – the bad cholesterol – was over 700 mg/dL.  Even for an adult those numbers are high – medical guidelines indicate total cholesterol levels should be under 200mg/dL, while LDL levels should be below 100 mg/dL; 70 if you have had a heart attack.

“If you looked at her, you couldn’t tell she was sick,” said Kennedi’s father, Sean Thompson.

Since Kennedi’s diagnosis, her parents, Sean and Angelina, who live in Albrightsville, Pa., have been advocating universal cholesterol screenings for children, much like the recommendations recently published by an expert panel convened by the National Heart, Lung and Blood Institute.

Kennedi’s doctor, Dr. Sam Gidding, cardiology division head at Nemour’s Cardiac Center at A.I. Dupont Hospital for Children in Wilimington, Del., was on the panel for the National Heart, Lung and Blood Institute when they made the recommendation last year, as well as a panel for the National Lipid Association, which has similar recommendations.

Gidding said there is a big difference between Kennedi’s genetic condition and obese children who have high cholesterol.

“Potentially, everyone with her problem will have a heart attack. Left untreated, it would lead to heart disease by her teenage years or early 20s.”

— Dr. Sam Gidding, cardiology division head at Nemour’s Cardiac Center at A.I. Dupont Hospital for Children

Kennedi’s bad cholesterol is strictly a result of bad genes.  Unlike children who have bad cholesterol levels due to poor eating habits and a lack of exercise, she is thin. In fact, Gidding added, she has many more of the bad LDL particles in her blood than are usually seen in overweight children.

Familial hypocholesterolemia is genetic disorder caused by a defect in the way cholesterol is taken to the liver for use in making important substances for the body. Kennedi’s case is rare because she inherited a bad gene from each of her parents. It is estimated that one in a million have this double gene, compared to one in 500 who have just one bad gene. Kennedi’s brother, Austin, has the milder form of the condition.

Gidding feels it’s important “that kids know their risk factors, and we want to know who has genetic hypocholestemia.”

The disease is usually without symptoms – so it’s harder to recognize, and perhaps not taken as seriously as other genetic diseases, he said. Early recognition and treatment will dramatically improve your prognosis.”

Obese children usually have a different lipid problem.  They have high trigylcerides and low levels of the good HDL cholesterol, Gidding said. They are more likely to have insulin resistance, which is pre-diabetes, though they can have high LDL cholesterol also.

Any type of cholesterol problem can lead to atherosclerosis, or narrowing of the arteries, and Kennedi’s risk for a heart attack during her teen years and 20s is increased – unless she can keep her numbers down.

“If  you can control the cholesterol levels, you can delay the time you have your heart attack,” Gidding said. “Potentially, everyone with her problem will have a heart attack. Left untreated, it would lead to heart disease by her teenage years or early 20s.”

Gidding has been treating Kennedi with cholesterol-lowering drugs Lipitor and Zetia, which have made a difference. Also, her parents have made some modifications to her diet, substituting carrot sticks for high-fat snacks at play dates.

So far, Kennedi does not show signs of atherosclerosis. Her LDL is still over 200 mg/dL, but with medication and exercise, the Thompsons are hoping to bring it down even more. When she is older, more aggressive treatment will be needed.

As with any medication, there are side effects to statins like Lipitor; some people report muscle pain, but Kennedi has not. The biggest challenge? Getting a toddler to swallow an adult pill.

“We had to hide it in frozen yogurt, but she became smart to that,” Sean Thompson said. “She just recently started swallowing pills on her own, which makes it easier.”

Kennedi still has xanthomas on her body, but the bumps have gotten smaller since her numbers have come down.

“They could fade or go away as she gets older,” Angelina Thompson said. “We call them her beauty scars.”