Harvard Heart Letter

New insights about an inherited form of high cholesterol

About one in 250 people has a genetic mutation that leads to dangerously high LDL (bad) cholesterol levels. Known as familial hypercholesterolemia (FH), the condition is the leading cause of early heart attacks (those that occur before age 55 in men and age 65 in women). In a person with FH, the risk of heart disease is 22 times higher than a person with a normal LDL level. But FH—which is caused by a single mutation in one of three different genes—is responsible for very high cholesterol levels in only a small fraction of people. Most people with very high LDL have dozens of different mutations, each of which raises LDL cholesterol a little bit. 
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