Abstract
Essential thrombocythaemia (ET) is one of the severe rare clonal haematologic stem cell disorders that encompass myeloproliferative neoplasms. ET has a well-described association with peripheral arterial thrombosis, which presents a challenging clinical presentation. Further understanding into the underlying pathophysiology of thrombosis in ET has been made following the identification of the Janus Kinase 2 (JAK2) mutation, which is thought to confer a prothrombotic phenotype. Here we present a case of refractory arterial insufficiency associated with JAK2-positive ET.
Crown Copyright © 2016. Published by Elsevier Inc. All rights reserved.
MeSH terms
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Amputation, Surgical
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Angioplasty, Balloon
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Anti-Bacterial Agents / therapeutic use
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Arterial Occlusive Diseases / diagnosis
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Arterial Occlusive Diseases / enzymology
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Arterial Occlusive Diseases / genetics*
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Arterial Occlusive Diseases / therapy
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Computed Tomography Angiography
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DNA Mutational Analysis
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Debridement
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Female
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Genetic Predisposition to Disease
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Humans
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Hydroxyurea / therapeutic use
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Janus Kinase 2 / genetics*
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Middle Aged
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Mutation*
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Phenotype
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Platelet Aggregation Inhibitors / therapeutic use
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Platelet Count
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Thrombocythemia, Essential / diagnosis
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Thrombocythemia, Essential / drug therapy
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Thrombocythemia, Essential / enzymology
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Thrombocythemia, Essential / genetics*
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Treatment Outcome
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Wound Healing
Substances
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Anti-Bacterial Agents
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Platelet Aggregation Inhibitors
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JAK2 protein, human
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Janus Kinase 2
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Hydroxyurea