Exceptionally elevated triglyceride in severe lipemia retinalis
Authors Yin HY, Warman R, Suh EH, Cheng AM
Received 1 August 2016
Accepted for publication 22 September 2016
Published 21 October 2016 Volume 2016:9 Pages 333—336
Checked for plagiarism Yes
Review by Single-blind
Peer reviewer comments 2
Editor who approved publication: Dr Scott Fraser
Han Y Yin,1–3 Roberto Warman,2,4 Edward H Suh,2 Anny MS Cheng2,3
1Wayne State University, School of Medicine, Detroit, MI, 2Department of Ophthalmology, Florida International University, Herbert Wertheim College of Medicine, 3Ocular Surface Center, Miami, 4Division of Pediatric Ophthalmology, Nicklaus Children’s Hospital, Miami, FL, USA
Purpose: To report a case of successful treatment for severe lipemia retinalis with extreme severe hypertriglyceridemia (sHTG).
Design: Observational case report.
Observations: A 6-week-old infant with severe lipemia retinalis manifested diffuse creamy retinal vessels complicated with vulvar xanthomas. Extreme sHTG with 185-folds of the normal level was reported. Chromosome microarray and lipid gene sequencing confirmed a homozygous lipoprotein lipase gene coding mutation.
Results: Under strict adherence to a high medium-chain triglycerides formula and discontinuation of breast milk, the lipemia retinalis and vulval lesions resolved along with a stable plasma lipid level throughout the follow-up period of 6 months.
Conclusion: Strict adherence to a low-fat diet without breast milk appears to be effective in treating infants with severe lipemia retinalis associated with exceptionally high triglycerides.
Keywords: hypertriglyceride, infant, lipemia retinalis, lipoprotein lipase gene
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