First Report of Successful Liver Transplant for Familial Hypertriglyceridemia in a Child With Recurrent Acute...

Familial hypertriglyceridemia (FHTG) is a rare but important cause of recurrent acute pancreatitis (RAP) in children. Liver transplantation (LT) may be the only definitive metabolic cure for this condition, although such an approach has not been reported previously.

In the current report, we describe a 8-year-old girl suffering from RAP secondary to FHTG for whom an LT led to complete resolution of her metabolic defect.

An 8-year-old girl with FHTG had severe RAP since the age of 6 years. Her serum triglyceride (TG) levels ranged between 2000 and 5439 mg/dL during the episodes of acute pancreatitis severe enough to cause hospitalisations. Acute episodes were managed with insulin-dextrose infusion and therapeutic plasma exchange. She was maintained on hypolipidemic agents along with a fat-restricted diet, despite which the TG levels continued to remain elevated, triggering further attacks of pancreatitis. In due course, she developed progressive wasting and stunting. After multidisciplinary evaluation and based on a strong scientific rationale, a living donor liver transplant (LDLT) was offered with a left lateral segment from her father. Post-transplant, the child had an uneventful recovery, without any medical or surgical complications, and her serum TG levels normalized within 6 weeks. At 11 months follow-up, her TG levels are 75 mg/dL, and she is free of any further episodes of pancreatitis.

This is the first report of a successful cure of FHTG via LDLT, highlighting its potential as a definitive therapeutic option for selected pediatric patients with severe, refractory HTG.