Sitosterolaemia identified due to peri-pregnancy rebound hypercholesterolaemia

Sitosterolaemia is a rare, autosomal recessive disorder of lipid metabolism, with about 110 cases reported in the literature so far.1 It is caused by pathogenic variants in either the ABCG5 or ABCG8 genes, which encode the ATP binding cassette transporter responsible for sterol efflux. Loss of function of this transporter leads to increased intestinal absorption and decreased excretion of dietary sterols. Sitosterol accumulation in the tissues and plasma results in the development of tendinous xanthomas and premature atherosclerosis, the most common manifestations of this condition.