Neonatal Screening for FCS

Video

Abhimanyu Garg, MD, indicates the importance of neonatal screening for familial chylomicronemia syndrome (FCS).

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.

For more, follow Rare Disease Report on Facebook and Twitter.

Recent Videos
Arshad Khanani, MD: Four-Year Outcomes of Faricimab for DME in RHONE-X | Image Credit: Sierra Eye Associates
Dilraj Grewal, MD: Development of MNV in Eyes with Geographic Atrophy in GATHER | Image Credit: Duke Eye Center
Margaret Chang, MD: Two-Year Outcomes of the PDS for Diabetic Retinopathy | Image Credit: Retina Consultants Medical Group
Carl C. Awh, MD: | Image Credit:
Raj K. Maturi, MD: 4D-150 for nAMD in PRISM Population Extension Cohort | Image Credit: Retina Partners Midwest
Charles C. Wykoff, MD, PhD: Interim Analysis on Ixo-Vec Gene Therapy for nAMD | Image Credit: Retina Consultants of Texas
Edward H. Wood, MD: Pharmacodynamics of Subretinal RGX-314 for Wet AMD | Image Credit: Austin Retina Associates
Dilsher Dhoot, MD: OTX-TKI for NPDR in Interim Phase 1 HELIOS Results  | Image Credit: LinkedIn
Katherine Talcott, MD: Baseline EZ Integrity Features Predict GA Progression | Image Credit: LinkedIn
Veeral Sheth, MD: Assessment of EYP-1901 Supplemental Injection Use in Wet AMD | Image Credit: University Retina
© 2024 MJH Life Sciences

All rights reserved.