Key result
A 2-year-old girl with acute pancreatitis and lipemia was found to be a compound heterozygote for two novel lipoprotein lipase mutations and remained asymptomatic on a low-fat diet at 12 months.
Population
n=1, 2-year-old East Indian girl presenting with acute pancreatitis and severe hypertriglyceridemia.
Design
Case_report
Follow-up
12 months
Authors
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May support low-fat diet in rare pediatric LPL deficiency; extends mutation spectrum but remains hypothesis-generating.
Case Report (n=1)
Identifies two novel LPL mutations (c.88+2insT and p.P214S) causing severe hypertriglyceridemia and acute pancreatitis in a toddler, which was successfully managed with a strict low-fat diet.
Gupta et al. (2010) conducted a case report in Acute pancreatitis and lipemia due to lipoprotein lipase deficiency (n=1). Low-fat diet and medium-chain triglycerides was evaluated on Prevention of extreme elevations of triglyceride and secondary pancreatitis. A 2-year-old girl with acute pancreatitis and lipemia was found to be a compound heterozygote for two novel lipoprotein lipase mutations and remained asymptomatic on a low-fat diet at 12 months.
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