title: Recurrent refractory arterial thromboembolism associated with the Janus kinase 2 V617F mutation.
abstract: 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.
authors.affiliation: Department of Vascular Surgery, Kings College Hospital, London, United Kingdom. faisal.ali@kch.nhs.uk
authors.forename: Faisal R
authors.initials: FR
authors.lastname: Ali
authors.forename: Lara N
authors.initials: LN
authors.lastname: Roberts
authors.forename: Hiren
authors.initials: H
authors.lastname: Mistry
authors.forename: Raj K
authors.initials: RK
authors.lastname: Patel
authors.forename: Robert A
authors.initials: RA
authors.lastname: Edmondson
authors.forename: Roopen
authors.initials: R
authors.lastname: Arya
mesh_terms: 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
chemical_list: D000925:Anticoagulants; D010975:Platelet Aggregation Inhibitors; C507924:JAK2 protein, human; D053614:Janus Kinase 2; D006918:Hydroxyurea