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?
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?
π‘ Explanation
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?
β Correct Answer: A. Familial chylomicronemia syndrome
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