Synthetic Cholesterol

The synthetic form of cholesterol is obtained mainly through being part of a research study, although some families have been given the formula and taken it to a local pharmacy that is willing to make the mixture. The mixture is crystalline cholesterol suspended in some form of medium such as a water based (aqueous) solution, soybean oil, or olive oil. The amount of synthetic cholesterol given varies, based on child, but the average is 150-250 mg/dl. The dosing of synthetic cholesterol is much higher than if using natural forms such as raw egg yolks due to the difference in the body's ability to absorb the cholesterol from the different mediums. It is best to administer the cholesterol supplement separate from other medications for better absorption.

The specialists have determined via research studies that there is no difference in the effect of giving 1000 mg vs. 2000 mg of cholesterol to older children and adults with SLOS. Most individuals have an absolute limit to the amount of cholesterol that can be absorbed by the body, so the standard dosing given is generally about 1000 mg of synthetic cholesterol or 500 mg as egg yolk (about 2-3 eggs) per day.

The manufacturer of synthetic cholesterol is Spectrum Chemical Mfg. Corp., (310) 516-8000. However, the synthetic cholesterol mixtures are regulated by the FDA under the IND (investigational drug) list and should be acquired through a study or via the specialists' help. The hope is that the trials will prove that the supplemental cholesterol helps those affected by SLOS and therefore should be an approved drug, whereby the families could then get it through their regular pharmacy and insurance coverage.

Since different doctors and different labs run the studies and testing, the numbers received for cholesterol counts may differ from those given to other families. The reason for this is the interpretation of the numbers...what one doctor may give as 94 for 7-DHC, another may give as 9.4. Keep this in mind if trying to compare notes.