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Exchange transfusions for extreme hypertriglyceridemia in a 7-week-old infant with multi-organ failure
Samira Ghoor1, Peter Berlyn2, Naeem Brey3
1South African Medical Research Council (SAMRC), Cape Town, South Africa.
Insights
Severe hypertriglyceridemia in infants, often due to lipoprotein lipase deficiency, can present unusually. Exchange transfusions effectively reduced triglyceride levels, leading to a full recovery in this case.
Area of Science:
- Biochemistry
- Pediatrics
- Genetics
Background:
- Severe hypertriglyceridemia is a significant risk factor for acute pancreatitis and cardiovascular disease.
- Lipoprotein lipase deficiency is the primary cause of severe hypertriglyceridemia in infants.
Observation:
- A 7-week-old infant presented with severe hypertriglyceridemia, gastrointestinal bleeding, respiratory distress, altered consciousness, and lipemia retinalis.
- Initial triglyceride levels were extremely high at 734 mmol/L.
- The infant exhibited atypical and diverse symptoms.
Findings:
- Exchange transfusions were administered to reduce triglyceride levels.
- Triglyceride levels were significantly reduced from 734 to 2 mmol/L.
- The infant experienced a complete recovery without any lasting complications.
Implications:
- This case underscores the importance of recognizing unusual presentations of severe hypertriglyceridemia in infants.
- Exchange transfusions offer a viable treatment option when standard therapies are inaccessible.
- Early diagnosis and intervention are crucial for managing this condition and preventing severe outcomes.
Abstract:
Severe hypertriglyceridemia is the third most common cause of acute pancreatitis and is strongly associated with an increased risk of cardiovascular disease. In infants, the most common cause of severe hypertriglyceridemia is lipoprotein lipase deficiency. We describe a 7-week-old infant with severe hypertriglyceridemia, who presented with frequent gastrointestinal bleeding, respiratory distress, a decreased level of consciousness and lipemia retinalis. Triglycerides were reduced from 734 to 2 mmol/L (64,956-177 mg/dL), by exchange transfusions. The infant made a remarkable recovery with no sequelae. This case highlights atypical, protean presentations and a potential treatment when established therapies are unavailable.
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