ESPE Abstracts

Background: Sitosterolaemia, or phytosterolaemia, is a disorder of increased plant sterol levels in the body leading to a variable presentation including hypercholesteremia, xanthoma, atherosclerosis and haematological manifestations. Although considered rare, the prevalence is likely underestimated due to the variable phenotype. It is caused by recessively inherited mutations in ABCG5 or ABCG8 which encode the sterol efflux transporters in the gut. Hyperchole...