ABSTRACT Sitosterolemia is a rare genetic lipid disorder caused by mutations in the ABCG5/ABCG8, genes. It is characterized by plasmatic plant sterols accumulation, formation of tendon and tuberous xanthomas and early onset coronary artery disease. The differential diagnosis with other congenital dyslipidemias presents significant challenges. We describe a case of a male patient who presented with hypercholesterolemia and tendinous xantomas from the age of 5. The patient was born to consanguineous parents, with no family history of hypercholesterolemia. With the […]