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Exceptionally elevated triglyceride in severe lipemia retinalis
Han Y Yin1, Roberto Warman2, Edward H Suh3
1Wayne State University, School of Medicine, Detroit, MI; Department of Ophthalmology, Florida International University, Herbert Wertheim College of Medicine; Ocular Surface Center, Miami.
Insights
A specialized diet effectively treated severe lipemia retinalis in an infant with extreme hypertriglyceridemia. Discontinuing breast milk and using a medium-chain triglyceride formula resolved retinal and skin lesions.
Area of Science:
- Ophthalmology
- Genetics
- Pediatrics
Background:
- Severe lipemia retinalis is a rare condition associated with extreme hypertriglyceridemia (sHTG).
- Lipoprotein lipase gene mutations are a common cause of sHTG in infants.
Observation:
- A 6-week-old infant presented with severe lipemia retinalis and vulvar xanthomas.
- The infant had 185-fold elevated triglyceride levels.
- Genetic testing revealed a homozygous lipoprotein lipase gene mutation.
Findings:
- Treatment involved a strict high medium-chain triglyceride formula and discontinuation of breast milk.
- Lipemia retinalis and vulvar xanthomas resolved within 6 months.
- Plasma lipid levels remained stable post-treatment.
Implications:
- A low-fat diet, excluding breast milk, can be an effective treatment for severe lipemia retinalis in infants.
- Early diagnosis and dietary intervention are crucial for managing sHTG and its complications.
- This case highlights the importance of genetic testing in identifying the cause of sHTG.
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.
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