Unmasking Rare Case of Confirmed Sitosterolemia Mimicking Hemolytic Anemia. Crucial Role of Early Diagnosis and Intervention

Objectives: Sitosterolemia often also known as Phytosterolemia, is a rare autosomal recessive lipid metabolism disorder. It is characterized by increased plant sterol levels, xanthomas, and accelerated atherosclerosis. It is caused by increased intestinal absorption and decreased biliary excretion of sterols resulting from biallelic mutations in either ABCG5 and ABCG8. Patients with sitosterolemia show extreme phenotypic heterogeneity, ranging from almost asymptomatic individuals to those with severe hypercholesterolemia leading to atherosclerosis and premature cardiac death.