Sitosterolaemia: A case of rare hypercholesterolaemia in Fh patient's cohort.

Aim: Aim: Familial Hypercholesterolaemia (FH) is the most common of all genetic hypercholesterolaemias. However there are other rare disorders presenting the same phenotype (phenocopies). Sitosterolaemia is one of those rare recessive disorders in which patients can present high levels of LDL-C but, most importantly, they present fat accumulation in tendons and arteries, leading also to increased cardiovascular risk. The defect in this case is in transporter genes responsible for the intestinal and biliary transport of plant sterols (ABCG5/ABCG8).