Milky plasma- Your diagnosis ??

A teenage boy presents with moderate to severe epigastric pain. Physical examination reveals extensive eruptive xanthomas and hepatosplenomegaly. A blood sample reveals milky plasma. Which of the following is the most likely lipoprotein to be elevated in this patient’s plasma?

A. Chylomicrons

B. Chylomicron remnants




The correct answer is A- Chylomicrons.

Clinical features and history are suggestive of Type I Hyperlipidemia (Chylomicronemia) that occurs due to deficiency of Lipoprotein lipase .

Familial lipoprotein lipase deficiency is an example of a primary disorder in which a deficiency of lipoprotein lipase in tissue leads to a massive accumulation of chylomicrons in the plasma. This effect results in a severe elevation of plasma triglyceride levels. Plasma cholesterol levels are not usually elevated. Patients with type I may present in early childhood, often with acute pancreatitis (that is perhaps the cause for epigastric pain). Eruptive xanthomas are the most characteristic skin manifestation of this disorder.

As regards other options

Chylomicron remnants cannot be elevated because they are produced upon metabolism of chylomicrons (Figure)

Fate of chylomicrons

Figure- Chylomicrons are acted upon by Lipoprotein lipase , that are converted to chylomicron remnants, which are eventually taken up by the liver cells.

HDL is not elevated in hyperlipidemia; in fact it is always on the lower side increasing the risk for coronary artery disease (CAD).

IDL is increased in type III (Broad beta band disease), whereas LDL is increased in Type II hyperlipidemia (familial hypercholesterolemia).

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