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Homozygous Familial Hypercholesterolemia

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Homozygous Familial Hypercholesterolemia

Case Description


A 20-year-old man presented with gross cutaneous tuberose xanthomata associated with severe hypercholesterolemia (total cholesterol: 785 mg/dl [20.3 mmol/l]; LDL cholesterol [LDL-C]: 710 mg/dl [18.4 mmol/l]) allied with significant (80%) coronary atheroma on angiography and affecting the left anterior descending coronary artery, with aortic calcification.

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