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Difficulties in Gauging Atherosclerotic Cardiovascular Disease Risk Heterogeneity in Familial Hypercholesterolemia

Atherosclerosis(2022)

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摘要
Familial hypercholesterolemia (FH), an autosomal co-dominant disease affecting overall 1:250–300 people, causes early atherosclerotic cardiovascular disease (ASCVD) and mortality [1]. Even recognizing that the risk attributable to FH is higher than the one of the general population [2], a fact seen even among those with severe hypercholesterolemia (i.e., LDL-cholesterol > 190 mg/dL) [3], the onset of ASCVD is heterogenous among people with the disease [1,4–7]. This is especially seen in contemporary heterozygous FH populations in use of statin therapy [2,7–9].
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