Severe hypercholesterolemia and phytosterolemia with extensive xanthomas in primary biliary cirrhosis: Role of biliary excretion on sterol homeostasis

►Although total cholesterol is often elevated in PBC, the severe hypercholesterolemia (>1,400 mg/dL) of this patient is extremely rare.►The presence of interdigital xanthomas, xanthelasmas and palmar xanthomas illustrates that these lipid deposits can be present both in primary and secondary hypercholesterolemias.►Plasma phytosterols were extremely high, suggesting a selective defect in the biliary excretion of phytosterols in PBC.►The patient did not show any functional mutation in ABCG5/G8 genes.►The severe hypercholesterolemia, with only mild cholestasis, indicates a selective defect in sterol biliary secretion, probably independent of ABCG5/ABCG8 excretion mechanism.

Primary biliary cirrhosis (PBC) is an autoimmune, chronic, cholestatic liver disease that affects primarily women. PBC is commonly associated with hypercholesterolemia that has been associated with cholestasis. We report an exceptionally high blood cholesterol and phytosterols with just mild cholestasis indicating a selective defect in sterol biliary secretion in a patient with PBC.