BAI JERBAI WADIA HOSPITAL FOR CHILDREN

Milky-White Blood in Infant Reveals Ultra-Rare Familial Lipoprotein Lipase Deficiency

- A two-and-a-half-month-old infant referred for suspected hypertrophic cardiomyopathy was found to have serum triglycerides exceeding 42,000 mg/dL, over 400 times the normal level. - A multidisciplinary team at Bai Jerbai Wadia Hospital for Children withheld oral feeds for 16 days with fat-free intravenous nutrition, bringing triglycerides down to 242 mg/dL by day 19. - Genetic testing confirmed Familial Lipoprotein Lipase Deficiency (LPLD), a disorder affecting approximately 1 in 1 million individuals, with both parents showing mildly elevated triglycerides. - The infant was discharged on June 29, 2026, on a low-fat oral diet and will require lifelong dietary fat restriction and regular lipid monitoring.