A.W. is a 35-year-old male admitted to a hospital with chest pain. On admission to the E.R. physical examination revealed tendinous xanthomas of the 2nd through 5th digits bilaterally. Non-fasting lipid profile revealed :
-Total cholesterol (TC): 310 mg/dL (Normal up to 200 mg/dl)
-Low-density lipoprotein cholesterol (LDL-C): 237 mg/dL (100 – 190 mg/dl)
-High-density lipoprotein cholesterol (HDL-C): 36 mg/dL (30 – 60 mg/dl)
-Triglyceride (TG): 185 mg/dL (< 180 mg/dl)
He has a strong family history of cardiovascular disease (CVD). Screening lipid profiles of AW’s children reveal altered lipid patterns. Based on family history, lipid profile, and clinical observation,
I- Which is your diagnosis for this patient?
a) Lipoprotein Lipase Deficiency
d) Familial hypercholesterolemia
e) Disbetahyperlipoproteinemia (Type III hyperlipidemia}
II.- Which is the biochemical alteration that causes this disease?
a) a mutation in LDL receptors
b) a defective apoprotein B
c) a deficit of Lipoprotein lipase
d) a deficit of Apo C-II
e) a deficit of cholesterol esterase