Recurrent refractory arterial thromboembolism associated with the Janus kinase 2 V617F mutation.
We report two patients with peripheral vascular disease requiring multiple bilateral radiologic and surgical interventions, and whose disease was unresponsive to conventional anticoagulation and antiplatelet therapy. Although thrombocytosis was only intermittent, analysis of the Janus kinase 2 (JAK2) gene revealed a V617F mutation, thus confirming the presence of an underlying occult myeloproliferative disorder. We propose that JAK2 mutation analysis be considered in patients with recurrent, unexplained arterial events to identify those with occult myeloproliferative disorders.
Ali
Faisal R
FR
Department of Vascular Surgery, Kings College Hospital, London, United Kingdom. faisal.ali@kch.nhs.uk
Roberts
Lara N
LN
Mistry
Hiren
H
Patel
Raj K
RK
Edmondson
Robert A
RA
Arya
Roopen
R
D000925:Anticoagulants / Q000627:therapeutic use; D001157:Arterial Occlusive Diseases / Q000201:enzymology / Q000235:genetics* / Q000628:therapy; D006801:Humans; D006918:Hydroxyurea / Q000627:therapeutic use; D053614:Janus Kinase 2 / Q000235:genetics* / Q000378:metabolism; D008297:Male; D008875:Middle Aged; D009154:Mutation; D009196:Myeloproliferative Disorders / Q000150:complications / Q000175:diagnosis* / Q000201:enzymology / Q000235:genetics / Q000628:therapy; D010975:Platelet Aggregation Inhibitors / Q000627:therapeutic use; D015641:Radiography, Interventional; D012008:Recurrence; D013923:Thromboembolism / Q000201:enzymology / Q000235:genetics* / Q000628:therapy; D017211:Treatment Failure; D014656:Vascular Surgical Procedures
D000925:Anticoagulants; D010975:Platelet Aggregation Inhibitors; C507924:JAK2 protein, human; D053614:Janus Kinase 2; D006918:Hydroxyurea