Cholic acid supplementation boosts cholesterol in patients with SLOS

Cholic acid supplementation significantly increases plasma cholesterol levels in individuals with Smith-Lemli-Opitz Syndrome (SLOS) and is well tolerated by patients, according to a study.

The study shows that cholic acid can be a promising new therapeutic approach for managing cholesterol deficiency in SLOS, though further research is needed to confirm long-term benefits and effectiveness.

In this pilot study, 12 patients with SLOS with low plasma cholesterol levels were administered cholic acid at a dose of 10 mg/kg/day for 2 months. The results showed a significant increase in average plasma cholesterol from 75 mg/dL to 97 mg/dL (P = 0.011). Eleven of the twelve participants experienced increases in cholesterol levels ranging from 3.8% to 85.7%, with an average increase of 38.7%.

The study also found a 20.6% reduction in 7-hydroxycholesterol, although there were no significant changes in 7-dehydrocholesterol or 8-dehydrocholesterol levels. The treatment led to a slight, though not statistically significant, increase in body weight. The cholic acid was well tolerated, with no adverse events reported.

Researchers suggest that while these findings are promising, further controlled studies are necessary to evaluate the long-term efficacy and potential clinical benefits of cholic acid for managing SLOS.

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.