[Usefulness of JAK2 mutation assessment in recurrent deep venous thrombosis].
The search of JAK2 V617F mutation is a useful tool for the diagnosis of myeloproliferative disorders (MPD). This case report highlights the potential usefulness of this testing in recurrent deep venous thrombosis (DVT) of lower limb. We report a 73-year-old man who presented with three spontaneous episodes of lower limb DVT. The third episode occured while he was receiving fluindione. MPD was suspected because of an increased hematocrit (55 %) and hemoglobin (17g/dl) level. Red cell blood volume was increased and a JAK2 V617F mutation was detected confirming the diagnosis of polycythemia vera. The usefulness of JAK2 mutation for the diagnosis of MPD has been widely demonstrated. Also, some studies confirmed its usefulness in apparently idiopathic abdominal venous thrombosis. This report highlights the possible interest of JAK2 mutation in unexplained recurrent lower limb DVT, especially when it occurs under anticoagulant therapy.
Konopacki
J
J
Clinique médicale, HIA du Val-de-Grâce, 74, boulevard de Port-Royal, 75005 Paris, France. jokonopacki@hotmail.com
Carmoi
T
T
Lecoules
S
S
Sekkach
Y
Y
Peter
A-L
AL
Billhot
M
M
Algayres
J-P
JP
D000368:Aged; D006801:Humans; D053614:Janus Kinase 2 / Q000235:genetics*; D008297:Male; D009154:Mutation; D012008:Recurrence; D020246:Venous Thrombosis / Q000235:genetics*
C507924:JAK2 protein, human; D053614:Janus Kinase 2