Patient description: A 16-year-old girl came to the clinic complaining of weight gain and abnormal menstrual cycles. Her BMI was 24, but she has gained 5 kg in the past few weeks. She gets tired more frequently and does not have energy to go dancing with her friends. Her lab results were remarkable for high TSH levels (15 mU/L) and low free T4 levels (0.18 ng/dl). Her anti-TPO levels were extremely high (136 IU/ml). She was diagnosed with Hashimoto disease. She does not smoke and she is not sexually active.

Clinical trial eligibility criteria: eligible ages (years): 0.0-999.0,  Lipoidosis   Male or female, age greater than or equal to 10 years are eligible. Patients must have a diagnosis of homozygous sitosterolemia with an elevated plasma sitosterol level (greater than 5 mg/dL at screening visit) on their current regimen. All women of childbearing potential must be practicing an effective method of contraception. All women of childbearing potential must have a negative urine pregnancy test within 72 hours prior to the start of the study medication. Patients must not have any condition which, in the opinion of the investigator, would be likely to render the patient unable to complete the study or for which study participation would produce significant risk or not be in the best interests of the patient. Individual with poor mental function, drug or substance abuse, or individuals with unstable psychiatric illness, which, in the opinion of the investigator, may interfere with optimal participation in the study will be excluded. Women must not be pregnant or lactating. Patients must not have had treatment with any other investigational drug within 30 days prior to visit 1. Patients can not newly diagnosed or untreated person who has not been given an opportunity to consider treatment with standard of care and an opportunity to decline such treatment. Patients must not have congestive heart failure NYHA class III or IV. Patients must not have uncontrolled cardiac arrhythmias. Patients must not have had a myocardial infarction, coronary bypass surgery or angioplasty within 6 months of the screening visit (Visit 1). Patients must not have unstable angina pectoris or unstable or severe peripheral vascular disease. Patients must not have uncontrolled diabetes mellitus (Hb(A1c) greater than 10%). Patients with diabetes mellitus should be on a stable antihyperglycemic regimen for at least 4 weeks prior to the screening visit (Visit 1). Patients must not have uncontrolled endocrine or metabolic disease known to influence serum lipids or lipoproteins. Clinically euthyroid patients on stable replacement doses of thyroid hormone (on the same dose for at least 4 weeks prior to study entry and with TSH equal to 10 IU/mL) are eligible for enrollment. Patients must not have uncontrolled hypertension (systolic BP greater than 200 mm Hg and/or diastolic BP greater than 110 mm Hg). Patients must not have creatinine greater than 2.0 mg/dL at the screening visit (Visit 1), or active renal disease with significant proteinuria (greater than 1 albumin/mg creatinine). Patients must not have active acute or chronic hepatobiliary disease; AST or ALT greater than 5 times the upper limit of normal of the reference laboratory at the screening visit (Visit 1). Patients must not have disorders of the hematologic, digestive (including malabsorptive disorders), or central nervous system including cerebrovascular disease and degenerative diseases that would limit study evaluation or participation. Patients must not be HIV positive