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: 1) autosomal recessive 2) mutations in ATP-binding cassette, subfamily G, member 5 gene (ABCG5) or ATP-binding cassette, subfamily G, member 8 gene (ABCG8) Clinical manifestations: 1) tendon & tuberous xanthomas 2) corneal arcus Laboratory: - elevated serum cholesterol, & plant sterols - increased beta sitosterol in serum/plasma

Database Correlations

OMIM correlations MORBIDMAP correlations

References

Clinical Diagnosis & Management by Laboratory Methods, J.B. Henry (ed), W.B. Saunders Co., Philadelphia, PA. 1991, pg 210