Sitosterol and cholesterol metabolism in a patient with coexisting phytosterolemia and cholestanolemia.

Sitosterol and cholesterol metabolism were studied in a patient with coexisting phytosterolemia and cholestanolemia, and in a control subject, both on similar diets containing about 170 mg cholesterol and 135 mg phytosterols per day. The turnover of 22,23-3H-sitosterol and 4-14C-cholesterol, given intravenously, were followed for up to 372 days. The specific activity-time curves for both sterols were resolved into two exponentials and fitted into a two-pool model. The half-lives of both exponential curves for sitosterol, in the patient, were abnormally long. Equilibration of the tracer between the two pools, in the patient, occurred at about 30 days as compared to 10-15 days in the control subject. The daily turnover of sitosterol in the patient was estimated to be 10 times greater than that in the control subject. The patient's total body exchangeable pool of sitosterol was 9.6 g or about 80 times the amount found in the control. The patient's plasma phytosterol levels fell by 25% when he went on a diet containing only 10 mg phytosterols per day. During this period the specific activity of his plasma sitosterol with respect to an equilibrated dose of 3H-labeled tracer remained constant; this was compatible with the absence of endogenous synthesis. Cholesterol turnover in the patient showed prolonged half-lives for both exponential curves and reduced fractional daily loss from the fast-exchanging pool. The patient's xanthoma sterols underwent 16% and 55% exchange with plasma sitosterol and cholesterol, respectively, on day 60, indicating the presence of a third exchangeable pool.