beta-sitosterolemia; phytosterolemia; shellfish sterolemia

Epidemiology

rare

Pathology

• accelerated atherosclerosis
• premature coronary artery disease
• increased intestinal absorption of all sterols including cholesterol, plant & shellfish sterols, & decreased biliary excretion of dietary sterols into bile

Genetics

• autosomal recessive
• mutations in ATP-binding cassette, subfamily G, member 5 gene (ABCG5) or ATP-binding cassette, subfamily G, member 8 gene (ABCG8)

Clinical manifestations

• tendon & tuberous xanthomas
• corneal arcus

Laboratory

• elevated serum cholesterol, & plant sterols
• increased beta sitosterol in serum/plasma

More general terms

• lipid metabolism, inborn error; lipid storage disease; lipidosis

Additional terms

• beta-sitosterol

Database

• OMIM: https://mirror.omim.org/entry/210250
• OMIM: https://mirror.omim.org/entry/605460
• OMIM: https://mirror.omim.org/entry/605459