Forms of Cholesterol Supplementation Ellen Roy Elias, MD Professor, Pediatrics and Genetics Children’s Hospital Colorado

History of Cholesterol Supplementation in patients with SLOS 1964: Smith-Lemli-Opitz Syndrome was first described 1993-4: Cholesterol metabolic error first discovered in patients with SLOS Initial patients with SLOS patients identified in Boston were children with very low cholesterol levels and very severe feeding problems necessitating feeding gastrostomy tubes

The patients were not able to eat high cholesterol containing foods by mouth Pediatric formulas available at the time were relatively low in cholesterol – this is still the case for most standard pediatric formulas Many of the patients had multiple and significant food allergies, so we were unable to just add eggs to their feeds

Why should we try to raise the cholesterol levels in our patients? Cholesterol is very important!!! The white matter of your brain is ¼ cholesterol You need it to make important hormones such as cortisol You need it to make bile acids to help absorb nutrients in your gut

If your cholesterol level is very low, your cell membranes can be very fragile. This is a major problem especially for parts of the body where cells are trying to be replaced very quickly such as: The skin The retina The intestine

How can we raise the cholesterol levels in patients who cannot eat high cholesterol foods? Invent a cholesterol medicine!! In 1994, Dr Mira Irons and I invented a cholesterol suspension by dissolving pure, pharmaceutical grade cholesterol in soy oil (we can put it in other oils if the child is allergic to soy) The cholesterol suspension is very concentrated (200 mg of cholesterol per ml), or the equivalent of 5 eggs per teaspoon We were granted an “Investigational New Drug (IND) number from the FDA to use this new medicine. Since it has proven safe to use for > 20 years, the FDA just told me that I can now use it without the IND!!

What has the experience been using the soy suspension? Between 5-6 dozen patients treated in Boston and Colorado have used the soy suspension safely since 1994 There have been no side effects of this medication – we have followed kidney and liver tests and blood counts for all this time

On treatment, the patients have shown increased cholesterol levels and lowered precursor levels Growth has been improved on cholesterol It is possible to give a much higher dose of cholesterol using the suspension than one can get with just eggs alone.

What are other forms of cholesterol supplementation? Patients who are able to eat by mouth can get cholesterol via foods in their diet. High cholesterol containing foods include eggs (200 mg/yolk), meat, dairy, liver Aqueous (water-based) suspension was invented in Baltimore – has been used in some patients Some Mom’s have found creative options on line (liver extract) Special shakes – made up of eggs, heavy cream and flavoring LOG formula Cholextera – can buy on line

LOG formula for SLOS Gerber Strained Lamb 2 ½ jars MCT oil 15 ml   Gerber Strained Lamb 2 ½ jars MCT oil 15 ml Corn oil 10 ml Polycose powder 10 Tbs + 2 tsp Or liquid 120 ml Calcium lactate 10 ml Normal saline 45 ml ADD WATER TO MAKE TOTAL VOLUME OF 32 OZ (960 ML)

Product Information Powder 200 g container provides 120 g cholesterol 1 level scoop = 333 mg cholesterol Indications Smith-Lemli- Opitz syndrome (SLOS) Diagnosed Sterol Disorders Advantages Microencapsulated powder Protects shelf life Tasteless and odorless powder Easy to dose Convenient to carry and use when away from home

How much cholesterol do you need? This depends on the severity of the disease My goal is to try to get the cholesterol level >100. Sometimes I can only get it >50! My experience has been using 100-300 mg/kg/day divided three times a day. The more severe the disease, the higher the dose.

Cholesterol levels tend to fall with illness and stress (such as surgery) If cholesterol level is very low, should consider giving stress steroids for illness with fever and surgical procedures.

How often do you need to check cholesterol levels? As children grow, the dose often needs to increase as it is based on weight I check about once a month in the beginning until I get into the right range