Management & Strategies

Disease Management & Strategies

If the diagnosis is suspected restriction of fat in the diet is the first treatment intervention. There are formulas that do not contain fat. For some patients giving all calories by vein (total parenteral nutrition) might be necessary. As children get older the amount of fat that they can tolerate in their diets is monitored by assessing growth and diarrhea. Monitoring of essential fatty acids is critical along with serum triglyceride and the fat soluble vitamins-D, E, A, K. Following the level of stool alpha-1 antitrypsin will provide a marker of how well nutrients are being absorbed.

Practical Dietary Recommendations

The amount of dietary fat tolerated by affected patients appears to be related to the underlying mutation and level of DGAT1 activity. For example, patients with loss of exon 8 and no DGAT1 activity tolerate approximately 4-7% calories from fat, while the patients with the p.L105P mutation may tolerate up to 10% of calories from fat. Dietary fat is best tolerated by these individuals if it is given in small amounts at multiple times during the day rather than in large boluses. Patients have improved with diets of fat-free formulas or foods, supplemented with measured amounts of canola oil. Dietary fat can be titrated to tolerance, defined by the amount of diarrhea, normal levels of stool alpha-1 antitrypsin, normal essential fatty acid profile, and appropriate growth for age.

To learn more about disease management please visit our dietitian section.