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Familial hypercholesterolemia, abnormal cholesterol disease, often undiagnosed

Katherine Wilemon gives her child, Ella, medication to lower her cholesterol, in this undated file photo.
August 7, 2012 12:00:00 AM PDT
A young woman thought to be healthy suddenly found herself in a dangerous situation.

Years of misdiagnosis led Katherine Wilemon to accumulate a cholesterol level of 600, causing her to have a massive heart attack at age 39.

Two years after Wilemon's heart attack, a specialist finally pin-pointed her problem. It was familial hypercholesterolemia, or FH, a genetic abnormality where the body is not able to cleanse the cholesterol out of the blood.

Wilemon's daughter was also diagnosed with it. At age 5, Ella had a cholesterol level of more than 200.

UCLA cardiologist Dr. Karol Watson says FH affects 620,000 Americans and 80 percent of them are unaware.

"It occurs in one form or another in about 1 in 500 people," Watson said. "That makes it more common than multiple sclerosis, cystic fibrosis, a lot of other common diseases."

Besides a family history of heart disease, one sure sign is an LDL cholesterol level - the bad cholesterol - of 160 or more. Without diagnosis, people with FH don't get the aggressive treatment they need.

"It's treatable if you find out and treat it proactively," Wilemon said, "so there's a real winnable battle here if we can get people diagnosed, they can get treated."

Cases of FH don't have to be extreme like Wilemon or her daughter's. Many people eat right, exercise and still have high cholesterol.

Various medications keep Wilemon's cholesterol under control. To help her daughter, she started the FH Foundation, dedicated to raising awareness, and the first nationwide registry to help with research.


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