CASE 35
A 9-year-old boy is brought to the ER by his parents after 2 days of worsen-
ing nausea/vomiting and abdominal pain. The abdominal pain is located in the
epigastric region and radiates to his back. He has had several episodes of sim-
ilar pain in the past but none quite as severe. His parents deny fever/chills and
change in bowel habits. In the ER, the patient is afebrile and in moderate dis-
tress. Both the liver and spleen appear to be enlarged and he has epigastric ten-
derness. Several small yellow-white papules were noted on his back and
buttocks. Laboratory tests reveal elevated amylase and lipase levels. On further
questioning, the father reports having high triglyceride levels and several
members of the mother’s family have had early heart disease. Laboratory tests
performed after hospitalization revealed elevated triglyceride levels and
reduced lipoprotein lipase activity.
What is etiology of the boy’s abdominal pain?
What is the likely underlying biochemical disorder?
What is the role of lipoprotein lipase?
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