Concurrent factor V Leiden and prothrombin G20210A gene mutations in a patient with a history of recurrent thrombosis.
We report a case of a 35-year-old male with a history of recurrent thromboembolic events, who presented to the emergency room with right sided weakness and difficulty with speech. The patient's past medical history included two myocardial infarctions, two deep vein thromboses, and a pulmonary embolism. Subsequent laboratory evaluation indicated that the patient was heterozygous for both the factor V Leiden and prothrombin G20210A mutations. This case report emphasizes the importance of evaluating patients with suspected hereditary thrombophilia for both of these mutations.
Mandavilli
B
B
Department of Pathology and Laboratory Medicine, Hartford Hospital.
Shoup
R M
RM
DiGiuseppe
J A
JA
Rezuke
W N
WN
Tsongalis
G J
GJ
D000328:Adult; D001483:Base Sequence; D005165:Factor V / Q000235:genetics*; D030342:Genetic Diseases, Inborn / Q000175:diagnosis; D006801:Humans; D008297:Male; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D011516:Prothrombin / Q000235:genetics*; D012008:Recurrence; D019851:Thrombophilia / Q000175:diagnosis* / Q000235:genetics*; D013927:Thrombosis / Q000175:diagnosis / Q000235:genetics*
D005165:Factor V; D011516:Prothrombin