title: Intestinal cholesterol absorption inhibitor ezetimibe added to cholestyramine for sitosterolemia and xanthomatosis.
abstract: Sitosterolemia is a rare, recessively inherited disorder characterized by increased absorption and delayed removal of noncholesterol sterols, which is associated with accelerated atherosclerosis, premature coronary artery disease, hemolysis, and xanthomatosis. Treatments include low-sterol diet and bile salt-binding resins; however, these often do not reduce the xanthomatosis. We examined the effects of the intestinal cholesterol/phytosterol transporter inhibitor ezetimibe added to cholestyramine in a young female patient with sitosterolemia and associated xanthomatosis. The patient was an 11-year-old female with sitosterolemia presenting with prominent xanthomas in the subcutaneous tissue of both elbows who was receiving treatment with cholestyramine 2 g once daily. Bilateral carotid bruits were audible, and a grade II/VI systolic murmur was detected at the left upper sternal border. She also had a low platelet count of 111,000/microL. Ezetimibe 10 mg once daily was added to the patient's ongoing cholestyramine regimen, and she was evaluated for 1 year. The patient followed an unrestricted diet during the 1-year treatment period. After 1 year of treatment with ezetimibe added to ongoing cholestyramine therapy, the patient's plasma sitosterol and campesterol levels decreased by approximately 50%. Her carotid bruits completely resolved, her systolic murmur diminished, and her platelet count rose to 268,000/microL. More remarkably, the tuberous xanthomas on her elbows had completely regressed. Ezetimibe added to ongoing low-dose cholestyramine therapy led to a marked improvement in plasma sterol concentrations, complete regression of xanthomatosis, resolution of carotid bruits, and improvement in cardiac murmur in a young female patient with sitosterolemia.
authors.affiliation: Department of Medicine, UMD-New Jersey Medical School, Newark, New Jersey; Veterans Affairs Medical Center, East Orange, New Jersey, USA. SalenGe@UMDNJ.EDU
authors.forename: Gerald
authors.initials: G
authors.lastname: Salen
authors.forename: Thomas
authors.initials: T
authors.lastname: Starc
authors.forename: Christine McCrary
authors.initials: CM
authors.lastname: Sisk
authors.forename: Shailendra B
authors.initials: SB
authors.lastname: Patel
mesh_terms: D000924:Anticholesteremic Agents / Q000008:administration & dosage*; D001384:Azetidines / Q000008:administration & dosage*; D002648:Child; D002792:Cholestyramine Resin / Q000008:administration & dosage*; D004305:Dose-Response Relationship, Drug; D004334:Drug Administration Schedule; D004359:Drug Therapy, Combination; D000069438:Ezetimibe; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D018570:Risk Assessment; D012720:Severity of Illness Index; D012855:Sitosterols / Q000097:blood / Q000378:metabolism*; D016896:Treatment Outcome; D014973:Xanthomatosis / Q000175:diagnosis / Q000188:drug therapy*
chemical_list: D000924:Anticholesteremic Agents; D001384:Azetidines; D012855:Sitosterols; D002792:Cholestyramine Resin; C025473:gamma-sitosterol; D000069438:Ezetimibe