EARLY DETECTION OF JAK2V617F MUTATION AS AN INDEPENDENT RISK FACTOR FOR SPLANCHNIC VENOUS THROMBOSIS IN ACUTE ABDOMEN
Journal Title: Journal of Evidence Based Medicine and Healthcare - Year 2019, Vol 6, Issue 30
Abstract
BACKGROUND Venous thrombosis is the 3rd most common cause of death after ischemic heart disease and stroke. The pathogenesis of venous thrombosis is multivariable. Splanchnic venous thrombosis is caused by a variety of conditions including abdominal infections, inflammatory processes, cirrhosis, cancer, myeloproliferative disorders (MPD), etc. One of the main clinical presentations in myeloproliferative disorders is the development of thrombosis in the portal mesenteric veins. One of the common mutations is JAK2V617F mutation, which is positive in a few cases with portal mesenteric venous thrombosis (PMVT). JAK-STAT signalling is helpful in cytokine signalling pathways. JAK-STAT pathway plays a major role in many fundamental processes, such as apoptosis and inflammation, dysfunctional proteins in the pathway may lead to several diseases. JAK2V617F mutation is the most common mutation and JAK2 exon12 mutation seen in less than 3% of the cases. METHODS This is a prospective study of 2 years from June 2016 to June 2018. Young, middle-aged patients who presented with acute abdomen to the emergency department, were clinically examined and evaluated with haematological and radiological investigations. Cases with evidence of thrombosis in splanchnic circulation were selected and investigated for antiphospholipid antibody, Protein C, Protein S, Antithrombin, Lupus anticoagulant, Factor V Leiden mutation, lastly JAK2 mutation. Few cases had a history of cardiovascular & cerebrovascular disease. RESULTS 43 cases were studied, out of which 17 cases were investigated for JAK2 mutation and among these 17 cases, 09 cases were found to be significantly positive and 08 were negative. All these 17 cases showed a normal thrombotic profile. The rest of the 26 cases had varied aetiology. 14 cases showed normal thrombotic profile, thrombosis was due to surgical and medical risk factors. Remaining 12 cases had an abnormal thrombotic profile. CONCLUSIONS Early detection of JAK2 mutation in young and middle-aged patients who suffered from thrombotic events is useful in unearthing MPD, which can be followed up medically with anticoagulant therapy, thus avoiding unnecessary surgery.
Authors and Affiliations
Bajaj Naval Kishore, Guntupalli Nadeswari
Keywords
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- EP ID EP670371
- DOI 10.18410/jebmh/2019/417
- Views 82
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