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

Classifying hyperlipoproteinemias by lipoprotein elevated, lipid elevated, and xanthoma type:

- Type I: Chylomicron + VLDL elevated; Triglycerides elevated; Eruptive xanthomas
- Type II: LDL elevated; Cholesterol elevated; Tendon xanthomas (Achilles, extensor)
- Type III: Chylomicron + VLDL + LDL elevated; TG + Cholesterol; Palmar + Tuberoeruptive xanthomas
- Type IV: Chylomicron + VLDL elevated; Triglycerides elevated; Eruptive xanthomas
- Type V: Chylomicron + VLDL elevated; Triglycerides elevated; Eruptive xanthomas

The patient in this question has: Tendon xanthomas + elevated LDL + elevated cholesterol.

This is the classic presentation of Type II Hyperlipoproteinemia (Familial Hypercholesterolemia), caused by deficiency or dysfunction of LDL receptors. LDL accumulates in the blood, deposits in tendons (tendon xanthomas) and skin around the eyes (xanthelasma).
\[\boxed{\text{Type II Hyperlipoproteinemia}}\]