Association of oesophageal varices and splanchnic vein thromboses in patients with JAK2-positive myeloproliferative neoplasms: Presentation of two cases and data from a retrospective analysis

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Abstract

Background: Oesophageal varices and gastrointestinal bleeding are common complications of liver cirrhosis. More rarely, oesophageal varices occur in patients with non-cirrhotic portal hypertension that results from thromboses of portal or splanchnic veins. Case Report: We describe 2 young men who initially presented with varices as a result of portal vein thromboses. In the clinical follow-up, both were tested positive for a JAK2 mutation and consequently diagnosed with myeloproliferative neoplasms (MPNs). In an attempt to characterise the frequency of gastrointestinal complications in patients with JAK2-positive MPNs, we retrospectively analysed all known affected patients from our clinic for the diagnosis of portal vein thromboses and oesophageal varices. Strikingly, 48% of those who had received an oesophagogastroduodenoscopy had detectable oesophageal or gastric varices, and 82% of those suffered from portal or splanchnic vein thromboses. Conclusion: While the association between JAK2, myeloproliferative disease and thrombotic events is well established, patients with idiopathic oesophageal varices are not regularly tested for JAK2 mutations. However, the occurrence of oesophageal varices may be the first presenting symptom of a MPN with a JAK2 mutation, and affected patients may profit from a close haematological monitoring to assure the early detection of developing MPN.

Details

Original languageEnglish
Pages (from-to)311-315
Number of pages5
JournalCase reports in oncology
Volume6
Issue number2
Publication statusPublished - May 2013
Peer-reviewedYes

Keywords

ASJC Scopus subject areas

Keywords

  • JAK2, Myeloproliferative neoplasms, Oesophageal varices, Portal veinthrombosis, Splanchnic vein thrombosis, Variceal bleeding