Smith-Lemli-Opitz Syndrome Medication

Updated: Apr 01, 2015
  • Author: Robert D Steiner, MD; Chief Editor: Luis O Rohena, MD  more...
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Medication

Medication Summary

No medications have been proven effective long-term in treatment of Smith-Lemli-Opitz syndrome (SLOS).

In March 2015, cholic acid (Cholbam) was approved by the FDA for bile acid synthesis disorders caused by a single-enzyme defect. Bile acids are important in fat digestion and absorption, as well as in the absorption of fat-soluble vitamins in the intestine. [27, 28]

Cholesterol given as egg yolk or crystalline cholesterol in oil or aqueous suspension or sprinkled on food has been used in clinical trials with limited success, but these studies are ongoing. Bile acids, including ursodeoxycholic and chenodeoxycholic acids, have been given in addition to cholesterol in some cases.

Exchange transfusions and transfusions of fresh frozen plasma also have been used in clinical trials. Visit ClinicalTrials and Office of Rare Diseases: Research and Clinical Trials for more information regarding clinical trials.

HMG-CoA reductase inhibitors (statins), including simvastatin, are also beginning to be used in clinical trials along with cholesterol supplementation. Haas et al recently reported the results of a trial of simvastatin, with somewhat disappointing results. [33]

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Gastrointestinal Agents, Other

Class Summary

Deficiency of primary bile acids permits the unregulated build-up of intermediate bile acids and cholestasis. Primary bile acid replacement therapy has been shown to improve liver function and weight gain.

Cholic acid (Cholbam)

Deficiency of primary bile acids permits the unregulated build-up of intermediate bile acids and cholestasis. Primary bile acid replacement therapy has been shown to improve liver function and weight gain.

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