Wong, Kwong Hui and Ibrahim, Ismail (2026) Clot without clues: JAK2-positive thrombosis with normal counts. In: 10th Medical Research Symposium 2026, 3-4 February 2026, Virtual.
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Abstract
Introduction: Thrombosis is a hallmark of JAK2-positive myeloproliferative neoplasms (MPNs), yet events may occur before overt blood count abnormalities appear. We report three cases which highlight the diverse thrombotic manifestations of JAK2-positive MPNs with normal hematologic profiles. Case reports: Case 1: A 72-year-old man with end-stage renal failure on dialysis developed recurrent acute myocardial infarctions with temporal angiographic evidence of progressive multivessel disease within 1 year. Haemoglobin was inappropriately normal despite no erythropoiesis-stimulating therapy. JAK2V617F mutation was detected, suggestive of polycythaemia vera pending bone marrow examination. He was treated with antiplatelet, direct oral anticoagulant (DOAC) and ruxolitinib due to hydroxyurea intolerance. Case 2: A 59-year-old man without cardiovascular risk, presented with sudden onset of left-sided body weakness due to right internal carotid artery thrombosis with concurrent pulmonary embolism causing respiratory failure. JAK2V617F mutation and bone marrow findings confirmed essential thrombocythemia. Follow-up blood counts showed subsequent thrombocytosis within 1.5 years. He received DOAC and hydroxyurea. Case 3: A 32-year-old man, without cardiovascular burden developed progressive left facial asymmetry and weakness for 3 days, with a past history of cerebral venous sinus thrombosis. Neuroimaging showed subacute lacunar infarcts, blood counts were normal, autoimmune screen was negative and JAK2V617F mutation was detected. He was treated with DOAC and monitored for progression to MPN. All patients remained free from recurrent thrombotic events on follow-ups. Conclusion: Unexplained or recurrent arterial and venous thromboses should prompt JAK2 mutation testing regardless of blood counts. Early identification of MPN-related thrombosis beyond counts enables proper antithrombotic strategy to prevent recurrence.
| Item Type: | Proceeding Paper (Poster) |
|---|---|
| Uncontrolled Keywords: | Essential thrombocythemia; Janus kinase 2; myeloproliferative disorders; polycythaemia vera; thrombosis |
| Subjects: | R Medicine > RC Internal medicine > RC633 Specialties of Internal Medicines- Diseases of The Blood and Blood-forming Organs. Hematologic Diseases |
| Kulliyyahs/Centres/Divisions/Institutes (Can select more than one option. Press CONTROL button): | Kulliyyah of Medicine Kulliyyah of Medicine > Department of Internal Medicine |
| Depositing User: | Dr Ismail Ibrahim |
| Date Deposited: | 12 Mar 2026 15:08 |
| Last Modified: | 12 Mar 2026 15:08 |
| Queue Number: | 2026-03-Q2526 |
| URI: | http://irep.iium.edu.my/id/eprint/127870 |
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