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Smith-Lemli-Opitz Syndrome
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Cholic acid intervention demonstrates safe and well-tolerated rise in cholesterol for SLOS

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Patients with Smith-Lemli-Opitz syndrome (SLOS) with low plasma cholesterol levels treated with cholic acid supplementation experienced a significant increase in plasma cholesterol levels after 2 months, according to a pilot study.

The standard therapy for SLOS often involves dietary cholesterol supplementation. However, due to impaired bile acid synthesis, the absorption of lipids from the diet is inefficient. Researchers hypothesized that supplementing with cholic acid, a bile acid, could enhance dietary cholesterol absorption and elevate plasma cholesterol levels.

In the study, 12 patients with SLOS with plasma cholesterol levels ≤125 mg/dL were treated with cholic acid (10 mg/kg/day) divided twice daily for 2 months.

At baseline, the average plasma cholesterol was 75 ± 24 mg/dL. After 2 months of cholic acid supplementation, the mean plasma cholesterol increased to 97 ± 29 mg/dL (P = 0.011), with 11 out of 12 subjects showing an increase in plasma cholesterol, ranging from 3.8% to 85.7% (mean 38.7 ± 23.3%). In addition, 7-hydroxycholesterol decreased by an average of 20.6% (P = 0.013). Although there were no significant changes in 7-DHC or 8-DHC, mean body weight tended to increase (3.6%, P = 0.069). No drug-related adverse events were reported.

Reference
Elias ER, Orth LE, Li A, et al. Cholic acid increases plasma cholesterol in Smith-Lemli-Opitz syndrome: A pilot study. Mol Genet Metab Rep. 2023;38:101030. doi: 10.1016/j.ymgmr.2023.101030. PMID: 38077958; PMCID: PMC10698565.

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