Int Med Case Rep J. 2016 Oct 21;9:333-336. doi: 10.2147/IMCRJ.S118594. eCollection 2016.
Exceptionally elevated triglyceride in severe lipemia retinalis.
International medical case reports journal
Han Y Yin, Roberto Warman, Edward H Suh, Anny Ms Cheng
Affiliations
Affiliations
- Wayne State University, School of Medicine, Detroit, MI; Department of Ophthalmology, Florida International University, Herbert Wertheim College of Medicine; Ocular Surface Center, Miami.
- Department of Ophthalmology, Florida International University, Herbert Wertheim College of Medicine; Division of Pediatric Ophthalmology, Nicklaus Children's Hospital, Miami, FL, USA.
- Department of Ophthalmology, Florida International University, Herbert Wertheim College of Medicine.
- Department of Ophthalmology, Florida International University, Herbert Wertheim College of Medicine; Ocular Surface Center, Miami.
PMID: 27799830
PMCID: PMC5085280 DOI: 10.2147/IMCRJ.S118594
Abstract
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
Conflict of interest statement
The authors report no conflicts of interest in this work.
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