Question

A patient with tendon xanthomas , Increased LDL and cholesterol .
What is the most probable diagnosis ?

• A. Type I Hyperlipoproteinemia
• B. Type II Hyperlipoproteinemia
• C. Type III Hyperlipoproteinemia
• D. Abetalipoproteinemia

Answer 1

The Correct Option is B

The clinical scenario describes a patient presenting with tendon xanthomas and elevated levels of LDL (Low-Density Lipoprotein) and cholesterol. This presentation aligns most closely with Type II Hyperlipoproteinemia, also known as familial hypercholesterolemia.

Explanation:

• Tendon Xanthomas: These are cholesterol-rich deposits found in tendons, particularly the Achilles tendon, and are a hallmark of familial hypercholesterolemia (Type II Hyperlipoproteinemia).
• Increased LDL: Type II Hyperlipoproteinemia is characterized by notably elevated LDL cholesterol levels due to a genetic defect, often in the LDL receptor.
• Increased Cholesterol: Alongside elevated LDL, total cholesterol levels are significantly high.

Considering the options:

1. Type I Hyperlipoproteinemia: Typically presents with elevated chylomicrons and triglycerides, not LDL.
2. Type II Hyperlipoproteinemia: Characterized by high levels of LDL and cholesterol, frequent association with tendon xanthomas.
3. Type III Hyperlipoproteinemia: Involves elevated IDL and VLDL remnants, not particularly characterized by LDL elevation or tendon xanthomas.
4. Abetalipoproteinemia: Typically presents with very low cholesterol levels due to defective lipoprotein assembly, opposite to elevated LDL and cholesterol.

Hence, the most probable diagnosis is Type II Hyperlipoproteinemia.