Question

A patient with orange-colored tonsils has a triglyceride level of 140 mg/dL and very low HDL cholesterol, 5 mg/dL. What is the most probable diagnosis?

• A. Familial hypercholesterolemia
• B. Tangier disease
• C. Type I hyperlipoproteinemia
• D. Abetalipoproteinemia

Hint:

Orange tonsils with very low HDL is a classic clue for Tangier disease.

Answer 1

The Correct Option is B

Concept: Tangier disease is due to defective cholesterol transport caused by ABCA1 mutation. It is associated with very low HDL and orange tonsils.

Step 1: Identify key clue.
The important clue is: \[ \text{Orange-colored tonsils} \]

Step 2: Look at lipid profile.
The HDL is extremely low: \[ HDL = 5\ \text{mg/dL} \]

Step 3: Choose diagnosis.
Orange tonsils with very low HDL is classic for: \[ \text{Tangier disease} \]