A patient with eruptive xanthomas, drawn blood milky in appearance. Which lipoprotein is elevated in the plasma?
Correct Answer: Chylomicron
Description: Ans. A. Chylomicron(Ref: Harrison 19/e Chapter Disorders Associated with Metabolism of Lipoproteins)This is a case of Type I hyperlipoproteinemia (familial chylomicronemia syndrome)Familial Chylomicronemia Syndrome (Type I Hyper-lipoproteinemia)Biochemical abnormalitiesLipoprotein Lipase (LPL) or Apo-CII defect.Lipoprotein accumulated is chylomicron and VLDL, but chylomicron predominates.Fasting triglycerides is >1000mg/dLFasting cholesterol is elevated to a lesser degree.Clinical presentationPresent in childhood with recurrent abdominal pain due to acute pancreatitisOn fundoscopic examination opalescent retinal blood vessels (lipemia retinalis)Lactescent plasmaQEruptive 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)HepatosplenomegalyPremature CHD is not a feature of FCS.
Category:
Biochemistry
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