Key result
Dietary modification and gemfibrozil (20 mg/kg twice daily) reduced serum triglycerides from 10,300 mg/dL to 872 mg/dL and normalized lipase in a neonate with LPL deficiency and pancreatitis.
Why the study?
Lipoprotein lipase deficiency is a rare autosomal recessive metabolic disorder with an estimated prevalence of one in a million births, and clinical manifestations are rare in the neonatal period.
Case Report (n=1)
No
Gemfibrozil plus diet may control neonatal LPL pancreatitis; hypothesis-generating for prospective trials.
Lipoprotein lipase (LPL) deficiency is an autosomal recessive metabolic disorder with varying presentation in infancy and childhood, whereas clinical manifestations are rare in neonatal period. The estimated prevalence is one in a million births. A 23-day-old baby was admitted with complaints of fever, vomiting, and lethargy. Blood sample drawn appeared lipemic. Lipemia retinalis was noted on funduscopic examination. Biochemical analysis revealed abnormal lipid profile with severe hypertriglyceridemia (10,300 mg/dL) and elevated serum lipase level (517 IU/L) indicative of LPL deficiency with acute pancreatitis. LPL deficiency was suspected and was confirmed by molecular genetic testing, which revealed a novel mutation in LPL gene. Dietary management and gemfibrozil were started following which serum triglyceride level decreased and serum lipase level normalized. The patient is following up regularly for growth and development monitoring.
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Shah et al. (2018) conducted a case report in Neonatal lipoprotein lipase (LPL) deficiency with severe hypertriglyceridemia and acute pancreatitis (n=1). Gemfibrozil and dietary fat restriction (skimmed milk and medium chain triglyceride oil) was evaluated on Serum triglyceride level (mg/dL) at 2 months of age. Dietary modification and gemfibrozil (20 mg/kg twice daily) reduced serum triglycerides from 10,300 mg/dL to 872 mg/dL and normalized lipase in a neonate with LPL deficiency and pancreatitis.
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