What Is Pure Hypercholesterolemia?

Q: What is pure hypercholesterolemia?


A: Pure hypercholesterolemia is the type of hypercholesterolemia (high cholesterol) that has nothing to do with lifestyle or diet. Instead, it’s due to a genetic mutation on chromosome 19. So, pure hypercholesterolemia is also called familial hypercholesterolemia.


The genetic mutation affects the way the body processes cholesterol in the blood. Therefore, people with pure hypercholesterolemia are more likely to get heart disease or heart attack. In addition, symptoms rarely occur, so genetic testing is used to determine the condition.


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