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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