ESPE Abstracts

Introduction: Sitosterolaemia, is a rare autosomal recessively inherited condition. The incidence in the literature varies hugely between 1/200,000 and 1 in one million. Its incidence is likely underestimated as it is commonly misdiagnosed as familial hypercholesterolaemia. Sitosterolaemia tends to present earlier, with xanthomas, joint pains and very high total cholesterol and LDL. Routine lipid testing does not include specific testing for plant sterols. Onc...