A 46-year-old man visits his physician complaining of fatigue and chest pains.His family history reveals that his father and grandfather both died of heart attacks at the age of 50.Laboratory results indicated elevated total cholesterol,elevated low-density lipoprotein (LDL),and normal triglyceride.He is eventually diagnosed with familial hypercholesterolemia and atherosclerosis.What is the likely cause?

Question

Quizplus · Accepted Answer

The elevated levels of LDL and normal triglyceride, along with the patient's family history, suggest familial hypercholesterolemia. This condition is caused by a genetic defect that reduces the number of LDL receptors on cell surfaces, leading to elevated levels of LDL cholesterol in the blood. This can result in the development of atherosclerosis and increase the risk of heart attack and stroke. Insulin deficiency and lipoprotein lipase deficiency are not associated with familial hypercholesterolemia. Tangier disease is a rare genetic disorder that causes very low levels of high-density lipoprotein (HDL) cholesterol, not elevated LDL cholesterol.

A 46-Year-Old Man Visits His Physician Complaining of Fatigue and Chest