April 20, 2021Lipids in Health and DiseaseOpen Access

Management strategy and novel ophthalmological findings in neonatal severe hypertriglyceridemia: a case report and literature review

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Why the study?

Neonatal severe hypertriglyceridemia is rarely reported in the literature, and there is no consensus on management in this age group.

Population

A 4-week-old male infant with severe hypertriglyceridemia

Design

Case report and literature review

Follow-up

5 months

Authors

NENehal El‐KoofyApple (Israel)YAYasmeen A. Abdo DEDina El-FayoumiCairo University

Discussion

Member takes

Implication

May offer a rapid option for extreme neonatal hypertriglyceridemia; leaves open confirmation of safety and efficacy in prospective studies.

Structured PICO

Population

n=1, 4-week-old (28 days) male infant with severe neonatal hypertriglyceridemia (triglycerides 33,727 mg/dL) due to homozygous LPL pathogenic variant c.805G > A; p.(Glu269Lys), accidentally discovered during circumcision surgery.

Intervention

Two sessions of exchange blood transfusion on two consecutive days, followed by a diet of rationalized breastfeeding and medium-chain triglycerides (MCT) formula.

Outcome

Reduction in serum triglyceride levels and prevention of acute pancreatitis.surrogate

Exchange blood transfusion followed by a modified diet successfully managed severe neonatal hypertriglyceridemia, though early corneal and macular lesions were detected by optical coherence tomography.

Limitations

Prolonged follow-up is needed to determine the extent of ophthalmological lesions.

Cite This Study

El‐Koofy et al. (2021) studied this question.

synapsesocial.com/papers/6a8356916cf9bd377e606e44 https://doi.org/10.1186/s12944-021-01464-2

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Implication

May offer a rapid option for extreme neonatal hypertriglyceridemia; leaves open confirmation of safety and efficacy in prospective studies.