Rare Disease Report

Neonatal Screening for FCS

MAY 07, 2018
Abhimanyu Garg, MD
Abhimanyu Garg, MD, is a lipodystrophy specialist and professor and chief of the Division of Nutrition and Metabolic Diseases in the Department of Internal Medicine at UT Southwestern Medical Center. While at the NLA’s 2018 Scientific Sessions in Las Vegas, Nevada, he indicated the importance of neonatal screening for familial chylomicronemia syndrome (FCS).

 

Garg: We also recently published our data on extreme hypertriglyceridemia from a children’s hospital at Dallas, and we were surprised to find patients with familial chylomicronemia syndrome (FCS) among other patients who had secondary causes for extreme hypertriglyceridemia, like uncontrolled diabetes. We were surprised to see that the estimated prevalence in Dallas was much more than what is written in the literature, which is one in a million. We think FCS may be more prevalent than what is so far recognized.

What we recommended in that article was that we should do neonatal screening—maybe it’s time to do neonatal screening for FCS because potentially it’s a treatable disease. Most of the time, when these children are born, they aren’t recognized as having FCS, and either they are on breast milk or they are on formula milk, and that causes extreme elevations of triglycerides that can be potentially dangerous for them. I think I would say that neonatal screening would be helpful, and beyond that, the recognition of the syndrome in young children and having them follow an extremely low-fat diet and other therapies as they may become available would be very important.

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