Which of the following is true regarding Factor V Leiden mutation?
Correct Answer: All of the above
Description: Ans. d. All of the aboveRef: Robbins and Cotran Pathologic Basis of Disease 9th Ed; Page No- 124This is the most frequent cause of hereditary thrombophilia.This is an abnormal factor V protein with a specific mutation that alters the cleavage site targeted by APC.The mutation prevents the cleavage and inactivation of the mutant factor Va by APC, a phenomenon referred to as "hereditary resistance to activated protein C."Production of mutant factor V (G - A DNA point mutation - Arg506Gln mutation near the cleavage site) that is resistant to degradation by activated protein C.Most common cause of inherited hypercoagulability in Caucasians.Complications include DVT, cerebral vein thromboses, and recurrent pregnancy loss.
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Pathology
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