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Lipoprotein lipase deficiency presenting with gastrointestinal bleeding and compensated shock
Joseph Kates Rose1, Jeffrey Do1, Vesa Basha1
1Department of Pediatrics, Faculty of Medicine, University of Ottawa, Ottawa, ON K1N 6N5, Canada.
Lipoprotein lipase (LPL) deficiency, a rare genetic disorder, can cause severe hypertriglyceridemia. This case highlights whole-blood exchange transfusion as a potentially effective acute treatment for infants with this condition.
Area of Science:
- Biochemistry
- Genetics
- Pediatrics
Background:
- Lipoprotein lipase (LPL) deficiency is an autosomal recessive disorder leading to hypertriglyceridemia.
- Clinical presentations are diverse, and acute management strategies lack standardization.
- Long-term care typically involves strict dietary modifications.
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