Question

A patient presents with xanthomas on the Achilles tendon. Which of the following is the most likely diagnosis?

• A. Familial hypercholesterolemia
• B. Tangier disease
• C. Familial hyperchylomicronemia
• D. Type III hyperlipoproteinemia

Hint:

When diagnosing lipid disorders, look for signs like xanthomas, which are commonly found in familial hypercholesterolemia, especially at sites like the Achilles tendon.

Answer 1

The Correct Option is A

A patient presenting with xanthomas on the Achilles tendon is most likely suffering from Familial hypercholesterolemia. Here's why:

Xanthomas are cholesterol-rich deposits that often appear on tendons such as the Achilles tendon. They are a hallmark indicator of certain types of hyperlipidemia.

• Familial hypercholesterolemia: This condition is characterized by high levels of low-density lipoprotein (LDL) cholesterol due to a genetic defect. Tendon xanthomas are a common clinical sign because of the accumulation of excess cholesterol in tendons.
• Tangier disease: This is a rare condition characterized by low levels of high-density lipoprotein (HDL) cholesterol. It is not commonly associated with tendon xanthomas.
• Familial hyperchylomicronemia: This involves elevated triglycerides rather than cholesterol, and is associated with eruptive xanthomas, not tendon xanthomas.
• Type III hyperlipoproteinemia: Associated with elevated levels of intermediate-density lipoprotein (IDL), it typically leads to palmar xanthomas, not specifically tendon xanthomas.

The presence of xanthomas on the Achilles tendon is thus most consistent with Familial hypercholesterolemia.