Which disease is associated with a deficiency in ApoC-II?

ApoC-II is an essential cofactor for lipoprotein lipase, an enzyme that hydrolyzes triglycerides in chylomicrons and VLDL (very low-density lipoproteins). A deficiency in ApoC-II results in impaired lipoprotein lipase activity, leading to an accumulation of triglyceride-rich lipoproteins in the bloodstream.

Familial lipoprotein lipase deficiency is characterized by severe hypertriglyceridemia due to the lack of effective triglyceride breakdown. Patients typically present with symptoms related to high triglycerides, such as pancreatitis, eruptive xanthomas, and often hepatosplenomegaly. Since ApoC-II is crucial for lipoprotein lipase function, its deficiency directly leads to the clinical manifestations seen in this condition.

The other conditions listed represent different pathophysiological processes. Familial dysbetalipoproteinemia is related to a mutation in ApoE, not ApoC-II. Familial hypercholesterolemia primarily involves a defect in the LDL receptor, which affects cholesterol metabolism rather than triglyceride metabolism. Abetalipoproteinemia is due to a defect in the microsomal triglyceride transfer protein (MTTP), affecting the assembly and secretion of lipoproteins