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      Essential thrombocythemia: Rare cause of chorea

      case-report

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          Abstract

          Essential thrombocythemia (ET) is a clonal myeloproliferative disorder (MPD), characterized predominantly by a markedly elevated platelet count without known cause. It is rare hematological disorder. In ET clinical picture is dominated by a predisposition to vascular occlusive events and hemorrhages. Headache, transient ischemic attack, stroke, visual disturbances and light headedness are some of the neurological manifestations of ET. Here, we describe a 55 year-old female who presented to us with generalized chorea. On evaluation, she was found to have thrombocytosis. After ruling out the secondary causes of thrombocytosis and other MPD we confirmed diagnosis of ET in her by bone marrow studies. Polycythemia vera (PV) another MPD closely related to ET may be present with generalized chorea. There are few case reports of PV presenting as chorea in the literature, but none with ET. We report the first case of ET presenting as generalized chorea.

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          Definition of subtypes of essential thrombocythaemia and relation to polycythaemia vera based on JAK2 V617F mutation status: a prospective study.

          Jane A. Scott, Lindsay Campbell, Keith Wheatley … (2005)
          An acquired V617F mutation in JAK2 occurs in most patients with polycythaemia vera, but is seen in only half those with essential thrombocythaemia and idiopathic myelofibrosis. We aimed to assess whether patients with the mutation are biologically distinct from those without, and why the same mutation is associated with different disease phenotypes. Two sensitive PCR-based methods were used to assess the JAK2 mutation status of 806 patients with essential thrombocythaemia, including 776 from the Medical Research Council's Primary Thrombocythaemia trial (MRC PT-1) and two other prospective studies. Laboratory and clinical features, response to treatment, and clinical events were compared for V617F-positive and V617F-negative patients with essential thrombocythaemia. Mutation-positive patients had multiple features resembling polycythaemia vera, with significantly increased haemoglobin (mean increase 9.6 g/L, 95% CI 7.6-11.6 g/L; p<0.0001), neutrophil counts (1.1x10(9)/L, 0.7-1.5x10(9)/L; p<0.0001), bone marrow erythropoiesis and granulopoiesis, more venous thromboses, and a higher rate of polycythaemic transformation than those without the mutation. Mutation-positive patients had lower serum erythropoietin (mean decrease 13.8 U/L; 95% CI, 10.8-16.9 U/L; p<0.0001) and ferritin (n=182; median 58 vs 91 mug/L; p=0.01) concentrations than did mutation-negative patients. Mutation-negative patients did, nonetheless, show many clinical and laboratory features that were characteristic of a myeloproliferative disorder. V617F-positive individuals were more sensitive to therapy with hydroxyurea, but not anagrelide, than those without the JAK2 mutation. Our results suggest that JAK2 V617F-positive essential thrombocythaemia and polycythaemia vera form a biological continuum, with the degree of erythrocytosis determined by physiological or genetic modifiers.
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            Essential thrombocythemia

            Jean Brière (2007)
            Essential thrombocythemia (ET) is an acquired myeloproliferative disorder (MPD) characterized by a sustained elevation of platelet number with a tendency for thrombosis and hemorrhage. The prevalence in the general population is approximately 30/100,000. The median age at diagnosis is 65 to 70 years, but the disease may occur at any age. The female to male ratio is about 2:1. The clinical picture is dominated by a predisposition to vascular occlusive events (involving the cerebrovascular, coronary and peripheral circulation) and hemorrhages. Some patients with ET are asymptomatic, others may experience vasomotor (headaches, visual disturbances, lightheadedness, atypical chest pain, distal paresthesias, erythromelalgia), thrombotic, or hemorrhagic disturbances. Arterial and venous thromboses, as well as platelet-mediated transient occlusions of the microcirculation and bleeding, represent the main risks for ET patients. Thromboses of large arteries represent a major cause of mortality associated with ET or can induce severe neurological, cardiac or peripheral artery manifestations. Acute leukemia or myelodysplasia represent only rare and frequently later-onset events. The molecular pathogenesis of ET, which leads to the overproduction of mature blood cells, is similar to that found in other clonal MPDs such as chronic myeloid leukemia, polycythemia vera and myelofibrosis with myeloid metaplasia of the spleen. Polycythemia vera, myelofibrosis with myeloid metaplasia of the spleen and ET are generally associated under the common denomination of Philadelphia (Ph)-negative MPDs. Despite the recent identification of the JAK2 V617F mutation in a subset of patients with Ph-negative MPDs, the detailed pathogenetic mechanism is still a matter of discussion. Therapeutic interventions in ET are limited to decisions concerning the introduction of anti-aggregation therapy and/or starting platelet cytoreduction. The therapeutic value of hydroxycarbamide and aspirin in high risk patients has been supported by controlled studies. Avoiding thromboreduction or opting for anagrelide to postpone the long-term side effects of hydrocarbamide in young or low risk patients represent alternative options. Life expectancy is almost normal and similar to that of a healthy population matched by age and sex.
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              Epidemiology of the myeloproliferative disorders polycythemia vera and essential thrombocythemia.

              Peter Johansson (2006)
              The annual incidence of polycythemia vera (PV) and essential thrombocythemia (ET) is approximately 2 and 1.5 per 100,000 inhabitants, respectively, if based on large population surveys and adjusted to a standard population. Survival for ET patients does not differ from that of the general population. However, it appears that PV patients have a significantly higher mortality, at least for patients diagnosed before 1990.
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                Author and article information

                Journal
                Journal ID (nlm-ta): Ann Indian Acad Neurol
                Journal ID (iso-abbrev): Ann Indian Acad Neurol
                Journal ID (publisher-id): AIAN
                Title: Annals of Indian Academy of Neurology
                Publisher: Medknow Publications & Media Pvt Ltd (India )
                ISSN (Print): 0972-2327
                ISSN (Electronic): 1998-3549
                Publication date (Print): Jan-Mar 2014
                Volume: 17
                Issue: 1
                Pages: 106-107
                Affiliations
                [1]Department of Neurology, PSG Institute of Medical Sciences and Research, Coimbatore, Tamil Nadu, India
                Author notes
                For correspondence: Dr. Eswaradass Prasanna Venkatesan, 3, Vijayarahavachari Road, Gandhi Road, Salem - 636 007, Tamil Nadu, India. E-mail: eprasanna2k1@ 123456gmail.com
                Article
                Publisher ID: AIAN-17-106
                DOI: 10.4103/0972-2327.128569
                PMC ID: 3992746
                PubMed ID: 24753674
                SO-VID: b2a7f217-b7d2-4185-9c16-e4c2b44fd10f
                Copyright © Copyright: © Annals of Indian Academy of Neurology
                License:

                This is an open-access article distributed under the terms of the Creative Commons Attribution-Noncommercial-Share Alike 3.0 Unported, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

                History
                Date received : 05 August 2013
                Date revision received : 16 August 2013
                Date accepted : 12 August 2013
                Categories
                Subject: Case Report

                ScienceOpen disciplines: Neurology
                Keywords: chorea,essential thrombocythemia,polycythemia vera
                Data availability:
                ScienceOpen disciplines: Neurology
                Keywords: chorea, essential thrombocythemia, polycythemia vera

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