Case Histo Panky, age 13, was admitted to hospital at 9:00 AM with suspected acu

Question

Case Histo Panky, age 13, was admitted to hospital at 9:00 AM with suspected acute appendicitis after severe abdominal pain throughout the night. On examination, her temperature and blood pressure were normal, she seemed somewhat underweight, liver and spleen were enlarged she had yellowish eyes, and numerous yellow patches (xanthomas) were seen on her trunk and limbs. A long history of abdominal pain had been ascribed to a “grumbling appendix". A blood specimen had the appearance of creamed tomato soup and after centrifugation, a thick band of "cream" collected at the top. Panky had had nothing to eat for 15 hours. A lipid profile and electrophoresis of plasma lipoproteins were ordered Creamy appearance of blood indicates very high lipids. Determination of the plasma lipids (lipid profile) confirmed hyperlipidemia. The lipids consisted largely of triglycerides, and the cholesterol was also increased. Electrophoresis of plasma lipoproteins confirmed the presence of chylomicrons Plasma lipids (Fasting) Normal range Total lipid: 400-800 mg/dl Triglycerides: 10-190 mg/dl Cholesterol 150-230 mg/dl Panky's result: Total lipid: 3400 mg/dl Triglycerides: 2230 mg/dl Cholesterol: 290 mg/dl

Explanation / Answer

1). Panky is suffering from a lipid metabolism disorder (fatty acid oxidation disorder), and the primary organ affected is, liver. Decreased release of bile acids impair the digestion of fats and impaired processing of bile acids causes yellowing of the body (xanthoma). The higher lipid levels are due to decreased bile secretion.

Her probable diagnosis is, "Chylomicron retention disease." The "thick cream" collected at the top is, "chylomicrons." It is a genetic disorder that occurs due to mutations in SAR1B gene.

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