A patient is found to have a high concentration of cholesterol in the blood and deposits of cholesterol under the skin.The patient is diagnosed with familial hypercholesterolemia.What is the likely cause of this condition?

Question

Quizplus · Accepted Answer

Familial hypercholesterolemia is typically caused by a genetic mutation that results in a lack of LDL receptors on the surfaces of nonhepatic cells. This leads to an accumulation of LDL (low-density lipoprotein) cholesterol in the blood, which can lead to deposits of cholesterol in the skin and other tissues. A deficiency in insulin production would not lead to this specific condition, insufficient chylomicron concentration is related to a different type of hyperlipoproteinemia, and overproduction of lysosomal lipases would not result in high levels of cholesterol in the blood.

A Patient Is Found to Have a High Concentration of Cholesterol