Sitosterolemia

Sitosterolemia is a rare autosomal recessive metabolic disorder of lipid trafficking characterized by hyperabsorption and impaired biliary excretion of dietary plant sterols, such as sitosterol and campesterol The disease arises from biallelic loss-of-function variants in either the ABCG5 or ABCG8 genes, which encode the ABC transporter complex responsible for effluxing plant sterols and non-cholesterol sterols from enterocytes and hepatocytes Defining clinical features often present in childhoo...

Sitosterolemia is a rare autosomal recessive metabolic disorder of lipid trafficking characterized by hyperabsorption and impaired biliary excretion of dietary plant sterols, such as sitosterol and campesterol The disease arises from biallelic loss-of-function variants in either the ABCG5 or ABCG8 genes, which encode the ABC transporter complex responsible for effluxing plant sterols and non-cholesterol sterols from enterocytes and hepatocytes Defining clinical features often present in childhoo...

Affected individuals accumulate markedly elevated plasma and tissue concentrations of phytosterols, primarily impacting the cardiovascular, musculoskeletal, and hematologic systems

Affected individuals accumulate markedly elevated plasma and tissue concentrations of phytosterols, primarily impacting the cardiovascular, musculoskeletal, and hematologic systems Defining clinical features often present in childhood or young adulthood and include tendon and tuberous xanthomas, accelerated atherosclerosis leading to premature coronary artery disease, arthralgias, and hematologic anomalies such as hemolytic anemia and macrothrombocytopenia