Q LM-05 About chest pain and xanthomas


  

                                             cholesterol structure 

 

 

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

 

b)     Abetalipoproteinemia

 

c)      Sphingolipidosis

 

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

 

 

 

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