LPL Gene Mutation in Type 1 Familial Triglyceridemia Presenting as Recurrent Pancreatitis and Complicated by COVID19

Abstract

AbstractA 7-year-old girl with recurrent episodes of pancreatitis with risk factor of poorly controlled hyperglyceridemia presented with an acute episode of pancreatitis. She was managed conservatively and underwent whole exome sequencing which showed a likely pathogenic LPL gene mutation. Incidentally, she was diagnosed with COVID-19 on screening, which we hypothesize to have triggered the recent episode. On further examination, she was found to have bilateral cataracts. Her hypercholesterolemia was effectively managed with dietary therapy, high dose omega 3, and gemfibrozil. Our case report sensitizes the clinician to use a modern diagnostic tool such as whole exome sequencing in children with recurrent pancreatitis where hypertriglyceridemia is a known risk factor. This child is the first case of LPL mutation reported in India.