Dieting with Familial Chylomicronemia Syndrome

According to a story from Rare Disease Report, there are several different rare diseases and conditions in which patients can find relief from most or all of their symptoms by following strict dietary guidelines. One such illness is familial chylomicronemia syndrome. For patients with this disease, doctors recommend that patients restrict their diets to limit fat intake as much as possible. If they fail to do this, the consequences could be severe.

About Familial Chylomicronemia Syndrome

Familial chylomicronemia syndrome (FCS), which is also known as lipoprotein lipase deficiency, is a rare genetic disorder in which the patient lacks the ability to produce lipoprotein lipase enzymes. This prevents them from successfully breaking down trigylcerides. It is caused by a mutation in the gene that codes for lipoprotein lipase. Symptoms first appear in infancy, and include failure to thrive and pain similar to colic. Symptoms that appear at any stage of life include severe pancreatitis and abdominal pain. Pancreatitis can be a life threatening complication that can lead to diabetes and pancreatic insufficiency. Treatments for familial chylomicronemia syndrome include lipid lowering drugs and gene therapy; however, gene therapy has only been used to treat a single case. To learn more about familial chylomicronemia syndrome, click here.

Dieting With FCS

The most common treatment for this disorder is a strict diet that is low in both fat and simple carbs. Dr. Wahida Karmally says that while it is essential for patients to maintain a low fat diet, this must be balanced with appropriate nutrient intake, which can be a significant challenge. Intake of fatty acids and certain micro-nutrients, for example, must be closely managed.

If patients are not getting all of the nutrients that they need, then there is an increased change of other complications appearing. Deviating from a fat restricted diet can also have serious consequences, and symptoms such as pancreatitis, abdominal pain, and nausea can appear even after minor lapses.

Dr. Karmally also mentions a specific type of medical food called medium-chain triglyceride (MCT) oil. This is the only type of fat that patients can use without worry of causing a flare up of symptoms. It is derived from coconut oil, but coconut oil itself is still unsafe because there are other fatty acids in the oil that can cause harm.

Unfortunately, MCT oil is not good for cooking at high temperature, but can only be added after a hot meal has been prepared. It can be obtained with a prescription.

Wahida Karmally, MS, RD, CDE, is the Director of Nutrition in The Irving Center for Clinical Research and an Associate Research Scientist and Lecturer in Dentistry at Columbia University.


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