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Multiple Choice

Tangier disease is associated with deficiency of which apolipoprotein?

Apolipoprotein A-I is the main protein component of HDL and drives its formation and function in reverse cholesterol transport. Tangier disease features extremely low or absent HDL because apoA-I–containing HDL particles cannot form properly, leading to impaired cholesterol efflux from tissues and accumulation of cholesterol esters in organs. This specific deficiency of the HDL-associated apolipoprotein underlies the Tangier phenotype. The other options involve different pathways: ApoC-II is needed to activate lipoprotein lipase to clear triglyceride-rich lipoproteins, so its deficiency causes severe hypertriglyceridemia rather than HDL loss; apoB-100 deficiency disrupts LDL/VLDL production, not HDL; and apoA-I deficiency directly affects HDL, which is why it fits Tangier disease.

Apolipoprotein A-I is the main protein component of HDL and drives its formation and function in reverse cholesterol transport. Tangier disease features extremely low or absent HDL because apoA-I–containing HDL particles cannot form properly, leading to impaired cholesterol efflux from tissues and accumulation of cholesterol esters in organs. This specific deficiency of the HDL-associated apolipoprotein underlies the Tangier phenotype.

The other options involve different pathways: ApoC-II is needed to activate lipoprotein lipase to clear triglyceride-rich lipoproteins, so its deficiency causes severe hypertriglyceridemia rather than HDL loss; apoB-100 deficiency disrupts LDL/VLDL production, not HDL; and apoA-I deficiency directly affects HDL, which is why it fits Tangier disease.