A 2-year-old girl presented with recurrent abdominal pain. She was admitted in pediatrics for detailed work up. When her blood was drawn for investigation it was milky white. Yellowish white papules noted on the dorsum of hands. On fundoscopic examination opalescent retinal vessels were seen. Fasting triglycerides >1000mg/dL, but cholesterol level was normal. What is the diagnosis?
Ans. A. Familial chylomicronemia syndromeIdentifying features are* Recurrent abdominal pain due to pancreatitis* Milky white plasma* Eruptive xanthoma* Lipemia retinalis* Very high triglycerides* Normal cholesterol
Familial chylomicronemia syndrome
Familial defective Apo B
Sitostrelomia
Familial dysbetalipoproteinemia
Lipids