This is a real-world medical entrance exam question, please give the true answer based on the question and selection. Topic name: None, Subject name: Biochemistry
[{'content': 'A 15 year old male patient presents with the chief complaint of pain in abdomen. General examination reveals xanthomas present in clusters on back, buttocks and arms, legs. On percussion, hepatomegaly and splenomegaly can be appreciated. What is the most probable diagnosis for this child? \nSelect and explain. \nA. Type I Hyperlipoproteinemia, B. Autosomal Dominant Hypercholesterolemia Type I (ADH Type I), C. Autosomal Recessive Hypercholesterolemia (ARH), D. Abetalipoproteinemia', 'role': 'user'}, {'content': 'Answer: A \nExplanation: Primary Hyperlipoproteinemias Causing Hypertriglyceridemia\nFamilial Chylomicronemia Syndrome (Type I Hyperlipoproteinemia)\nBiochemical abnormalities:\n\nLipoprotein Lipase (LPL) or Apo CII defect.\nLipoprotein Lipase is required for hydrolysis of TGs in Chylomicrons and VLDL. Apo CII is the cofactor for Lipoprotein Lipase.\nLipoprotein accumulated is Chylomicron and VLDL, but chylomicron predominates.\nFasting Triglycerides is > 1000 mg/dL.\nFasting cholesterol is elevated to a lesser degree.\n\nClinical Presentation:\n\nPresent in childhood with recurrent abdominal pain due to acute pancreatitis.\nOn fundoscopic examination, opalescent retinal blood vessels (lipemia retinalis).\nLactescent plasma.\nEruptive xanthoma (small yellowish-white papules appear in clusters on backs, buttocks, extensor surfaces of arms and legs. These are painless skin lesions may become pruritic).\nHepatosplenomegaly.\nPremature CHD is not a feature of FCS.\n\nDiagnosis:\nAssaying triglyceride lipolytic activity in post heparin plasma (IV heparin injection to release the endothelial-bound LPL).\nKey Concept:\nXanthomas (present in\xa0clusters\xa0on\xa0back, buttocks and arms, legs) and hepatomegaly and splenomegaly (on percussion) with the chief complaint of pain in abdomen in children is the clinical presentation of\xa0Type I Hyperlipoproteinemia.', 'role': 'assistant'}]