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Transient hypertriglyceridemia of infancy
A Nilsson1, E Ortqvist, H Lagercrantz
1Department of Paediatrics, Karolinska Hospital, Karolinska Institute, Stockholm, Sweden.
Insights
A premature infant experienced severe hypertriglyceridemia due to decreased lipoprotein lipase (LPL) activity. This condition resolved spontaneously, suggesting a partial genetic LPL deficiency as the likely cause.
Area of Science:
- Biochemistry
- Pediatrics
- Genetics
Background:
- Premature infants are susceptible to various health complications.
- Infant respiratory distress syndrome (IRDS), bronchopulmonary dysplasia, and retinopathy of prematurity are common in premature infants.
- Hyperlipidemia can occur in infants, necessitating investigation into its underlying causes.
Observation:
- A 5-month-old premature boy with a history of IRDS, bronchopulmonary dysplasia, and retinopathy of prematurity presented with massive hypertriglyceridemia (48.1 mmol/L) and moderate hypercholesterolemia (12.6 mmol/L).
- Lipoprotein electrophoresis showed elevated very-low-density lipoprotein levels.
- A moderate decrease in lipoprotein lipase (LPL) activity was observed.
- The child had no liver or renal disorders or inflammatory conditions.
Findings:
- The infant exhibited severe hypertriglyceridemia and hypercholesterolemia.
- Reduced lipoprotein lipase (LPL) activity was identified as a key factor.
- The hyperlipidemia resolved spontaneously by age 3 years.
- No secondary causes for decreased LPL activity were identified.
Implications:
- The findings suggest a potential partial genetic deficiency in lipoprotein lipase (LPL) as the cause of severe hypertriglyceridemia in this infant.
- This case highlights the importance of considering genetic factors in pediatric hyperlipidemia, even in the absence of secondary causes.
- Further research into genetic LPL deficiencies in pediatric populations may be warranted.
Abstract:
A premature boy who had suffered from IRDS, bronchopulmonary dysplasia and retinopathy of prematurity developed massive hypertriglyceridemia (48.1 mmol/L) together with moderate hypercholesterolemia (12.6 mmol/L) at 5 months of age. Lipoprotein electrophoresis revealed a marked elevation of the level of the very low density lipoprotein fraction. There was a moderate decrease in the activity of a lipolytic enzyme, lipoprotein lipase (LPL). The child had neither liver or renal disorder nor any inflammatory disease. The hyperlipidemia disappeared spontaneously at the age of 3 years. The cause of the decreased LPL activity could not be established. A partial genetic deficiency in lipoprotein lipase appears the most likely explanation, since no signs of secondary lowering of LPL activity could be found.