A patient is found to have xanthomas on PE. What is the likely diagnosis?

A patient is found to have xanthomas on PE. What is the likely diagnosis?

• A. Hyperlipidemia
• B. Hypertriglyceridemia
• C. Hypercholesterolemia
• D. Hypolipoproteinemia

Answer: (C)

Xanthomas are lipid-laden deposits in the skin and tendons, formed when lipids—especially cholesterol carried by LDL—accumulate in tissues. Seeing xanthomas on examination points to elevated cholesterol levels in the blood, making hypercholesterolemia the most likely diagnosis. While hyperlipidemia is a broad umbrella, the presence of xanthomas specifically reflects high cholesterol (often due to increased LDL or defective LDL handling) more than just high triglycerides. Elevated triglycerides can cause eruptive xanthomas, but the classic, non-eruptive xanthomas commonly seen with conditions like familial hypercholesterolemia are tied to cholesterol excess. Hypolipoproteinemia would imply low lipid levels and wouldn’t produce these deposits.

Xanthomas are lipid-laden deposits in the skin and tendons, formed when lipids—especially cholesterol carried by LDL—accumulate in tissues. Seeing xanthomas on examination points to elevated cholesterol levels in the blood, making hypercholesterolemia the most likely diagnosis. While hyperlipidemia is a broad umbrella, the presence of xanthomas specifically reflects high cholesterol (often due to increased LDL or defective LDL handling) more than just high triglycerides. Elevated triglycerides can cause eruptive xanthomas, but the classic, non-eruptive xanthomas commonly seen with conditions like familial hypercholesterolemia are tied to cholesterol excess. Hypolipoproteinemia would imply low lipid levels and wouldn’t produce these deposits.