Sitosterolemia needs to be distinguished from familial hypercholesterolemia.

Features shared between sitosterolemia and familial hypercholesterolemia:

(1) tendinous and/or tuberous xanthomas

(2) elevated plasma cholesterol concentration

(3) premature atherosclerosis


Features seen with sitosterolemia:

(1) markedly elevated serum concentration of plant sterols

(2) the hypercholesterolemia responds well to diet, bile acid sequestrants or ezetimibe

(3) the hypercholesterolemia may resolve when the patient is an adult

(4) mutations in ABCG5 and/or ABCG8

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