sitosterolemia 1

A sitosterolemia that has_material_basis_in homozygous or compound heterozygous mutation in the ABCG8 gene on chromosome 2p21.

Signs and symptoms

• Stomatocytosis
• Carotid artery stenosis
• Anemia
• Giant platelets
• Reticulocytosis
• Increased circulating lactate dehydrogenase concentration
• Splenomegaly
• Decreased circulating haptoglobin concentration
• Hypercholesterolemia
• Corneal arcus