Essential thrombocythaemia first presenting as myocardial infarction in a 36-year-old male

Essential thrombocythaemia (ET) is a myeloproliferative neoplasm where there is a clonal proliferation of thrombocytes. Whilst most often diagnosed incidentally, it can uncommonly present with arterial thrombosis. This is a case presentation of a 36-year-old male who was diagnosed with ET following myocardial infarction caused by multiple thrombotic emboli. The patient was initially misdiagnosed with viral myopericarditis based on an atypical history of chest pain with a viral prodrome. Reattendance a month later with further chest pain, dynamically raised troponin and ECG changes raised suspicions of ACS. Analysis of blood markers from both admissions showed consistently elevated platelet counts. A CMR scan revealed focal ischaemic scars in multiple cardiac segments consistent with an acute coronary event or coronary embolisation. A subsequent coronary angiography demonstrated minimal coronary artery disease. JAK2 gene V617F mutation was detected, confirming ET. The patient was commenced on pegylated interferon-alpha and dual antiplatelet therapy, and discharged with follow-up.

Molecular basis of essential thrombocythaemia in humans and dogs – a review

<b>A potential cause of essential thrombocythaemia can be seen as the V617F point mutation within Janus kinase 2. This mutation occurs in 60-70% of patients with this disease and is located in the domain acting as an inhibitor. It increases the enzymatic activity of JAK2 kinase and induces intensified sensitivity of cells to cytokines. Identification of mutations in the JAK2 gene has made it possible to describe the molecular pathogenesis of myeloproliferative syndromes, which has enabled more accurate diagnosis and assisted in effective treatment. The significant similarity of the clinical, laboratory and morphological features of myeloproliferative syndromes (including essential thrombocythaemia) in animals and humans suggests that common signalling pathways within the JAK2 gene may be involved in the development of these diseases.</b>

Percutaneous coronary intervention in a patient with heparin resistance due to essential thrombocythaemia: a case report

Background Coronary artery disease is uncommon in patients with essential thrombocythaemia (ET); therefore, no treatment strategies have been established. Case summary A 68-year-old man visited our hospital with worsening effort angina complicated with ET. Coronary angiography (CAG) revealed moderate stenosis of the left main trunk and left anterior descending artery (LAD). We planned to perform percutaneous coronary intervention (PCI) only after the patient’s platelet count had fallen below 600 000/μL. Platelet factor 4 levels were markedly elevated (355.0 ng/mL; the normal range is &lt;20 ng/mL). We observed a de novo lesion in the proximal left circumflex artery and stenosis progression in the LAD at the time of the PCI, neither of which had been detected at the previous CAG. During the PCI procedure, argatroban was infused to maintain the activated clotting time (ACT) above 250 s. The PCI was performed successfully without any complications. Follow-up CAG showed no restenosis, and no bleeding complications were observed during the course. Discussion In patients with ET, it may be useful to measure platelet factor 4 before PCI and to monitor ACT during the procedure. When heparin resistance is suspected based on blood coagulation tests, infusion of direct thrombin inhibitor during PCI may be considered, with anticoagulation monitoring by ACT.