Straightforward Identification of Masked Polycythemia Vera Based on Proposed Revision of World Health Organization Diagnostic Criteria for BCR-ABL1-Negative Myeloproliferative Neoplasms

No abstract available.

Policitemia vera y trombofilia / Polycythemia vera and thrombophilia

La policitemia vera es un síndrome mieloproliferativo crónico resultado de la proliferación anormal de la célula madre pluripotente, que da lugar a una hematopoyesis clonal con predominio de hiperplasia eritroide sobre el resto de las líneas hematopoyéticas. Como en otros síndromes mieloproliferativos, se observan complicaciones trombóticas y hemorrágicas, que son causa de morbimortalidad en este grupo de pacientes. La asociación de policitemia vera y estados trombofílicos no es frecuente y cuando aparece aumenta la tendencia a la formación de trombos. Por otro lado, las trombofilias son un grupo heterogéneo de condiciones asociadas a un mayor riesgo de aparición de trombosis arteriales y venosas en las que existen un grupo de factores de riesgo. En este trabajo se presenta un paciente masculino de 50 años con el diagnóstico de policitemia vera de 12 años de evolución, que ha llevado tratamiento con hidroxiurea e interferón alfa recombinante. Durante los dos últimos años comenzó a presentar cuadros de hemorragias recurrentes en ambos miembros inferiores y superiores y además presentó una trombosis venosa profunda por lo que se le realizaron estudios de hemostasia y se detectó una disminución significativa de la actividad de las proteínas C y S, asociación descrita de forma infrecuente, concomitante con alteraciones de la función plaquetaria. Con la presentación de este caso se demuestra la importancia de pesquisar la presencia de estados trombofílicos asociados a procesos hematológicos malignos...

Polycythemia vera is a chronic myeloproliferative syndrome resulting from abnormal proliferation of the pluripotent stem cell, giving rise to a clonal hematopoiesis, with predominant erythroid hyperplasia over other hematopoietic lines. In this as in other myeloproliferative syndromes thrombotic and hemorrhagic complications are observed, which are cause of morbidity and mortality in this group of patients. The association of polycythemia vera and thrombophilic states is infrequent and when it appears tendency of thrombus formation is increased. Furthermore, thrombophilias are a heterogeneous group of conditions associated to an increased risk of arterial and venous thrombosis where a group of risk factors exists. We present a 50 year-old male patient with a diagnosis of polycythemia vera 12 years ago, who has been treated with hydroxyurea and recombinant alpha interferon. During the last two years he started suffering recurrent bleeding episodes in both upper and lower limbs also presenting a deep vein thrombosis. Hemostasis studies were performed and a significant reduction in the activity of proteins C and S were detected, which association is infrequently described, concomitant with alterations of platelet function. This case demonstrates the importance of searching for the presence of thrombophilic states associated to hematological malignancies...

A Rare Case of Polycythemia Vera Following Acute Undifferentiated Leukemia Remission

No abstract available.

Policitemia Vera. Experiencias en el diagnóstico y tratamiento en el Instituto de Hematología e Inmunología / Polycythemia vera: Experiences in diagnosis and treatment in the Institute of Hematology and Immunology

La policitemia Vera se encuentra entre las neoplasias mieloides según la clasificación más reciente de la Organización Mundial de la Salud (OMS). Sus criterios diagnósticos han tenido variaciones en los últimos años y en este trabajo se realiza un análisis de estos criterios, así como de la respuesta a los tratamientos empleados en 349 pacientes atendidos en el Instituto de Hematología e Inmunología en los últimos 40 años. Se sugiere, dada su factibilidad y eficacia, continuar utilizando por el momento la clasificación OMS del 2001, y de acuerdo con la experiencia acumulada, se propone el tratamiento con medicamentos de primera y segunda líneas según la edad y las características clínicas de cada enfermo

The Polycythemia vera is located among the myeloid neoplasms according to the more recent classification of the HWO. Its diagnostic criteria have underwent variations in past years and in present paper authors made an analysis of such criteria, as well as of the response to treatments applied in 349 patients seen in the Institute of Hematology and Immunology during the past 40 years. Due to feasibility and effectiveness, for the moment, is has been suggested to carry on with the use of the classification of WHO of 2001, and according to the experience gained, it is proposed the treatment with first and second line drugs by age and the clinical features of each patient

JAK2-positive Philadelphia-negative myeloproliferative neoplasms.

The recent discovery of the JAK2 mutations has rekindled interest in the approach to classic BCR/ABL-negative myeloproliferative neoplasms (MPNs) in terms of both diagnostic evaluation and treatment. However, additional clinical, laboratory and histological parameters play a key role to allow diagnosis and subclassification, regardless of whether JAK2 V617F mutation is present or not. Here are two cases which incidentally presented with splenomegaly and moderate leukocytosis, and were diagnosed as MPN-primary myelofibrosis (PMF) in prefibrotic phase and polycythemia vera (PV), respectively, using revised World Health Organization (WHO) 2008 criteria.

Isolated cilioretinal artery occlusion as an initial manifestation of polycythemia vera

Isolated cilioretinal artery occlusion is a rarely initial manifestation of polycythemia vera. In this study, we reported a case of a 65-year-old man with polycythemia vera with cilioretinal artery occlusion as an initial manifestation

Thrombotic complications assessment in polycythemia

To study thrombotic complications in polycythemia patients. Hematology clinic, Baghdad Teaching Hospital, Iraq. Prospective study. The study was performed from October 2001 till January 2005. Full history, physical examination and appropriate investigations were done to patients diagnosed with polycythemia. Seventy-seven patients enrolled in this study, 52 patients with Polycythemia Vera, 21 with secondary polycythemia and 4 with spurious polycythemia. Thrombotic complications occurred in 17 [32.69%] patients of the Polycythemia Vera group, out of which acute coronary syndrome was seen in 6 [24%], cerebrovascular accidents in 6 [24%], deep vein thrombosis in 5 [20%], mesenteric artery thrombosis in 5 [20%], portal vein thrombosis in one [4%], hepatic vein thrombosis in one [4%] and erythromelalgia in one [4%]. In secondary polycythemia only 3 out of 21, [17.64%] had thrombotic complications. Patients, with secondary polycythemia and PCV higher than 60, had history of thrombosis in one patient [4.76%] only. Finally, no thrombotic complications in spurious polycythemia were seen. Thrombotic complications in Polycythemia Vera were common and more frequent in patients with higher PCV, raised platelets count and raised white blood cell count. Hypertension was statistically significant predictor of thrombosis in Polycythemia Vera. Further research using bigger sample size is suggested. Multicentre study would be advised for this purpose

Polycythemia vera presenting with bilateral papilledema: a rare case report.

A 45-year-old male patient presented with gradual onset of headache, vomiting and blurring of vision of 28 days duration. Ophthalmological examination revealed normal anterior segment and pupillary reflex. No abnormality was detected in the vitreous. Optic disc showed features of advanced papilledema with normal macula and retinal periphery in both eyes. Visual acuity was 20/200 in the right eye and counting fingers close range in the left eye. Non-contrast computed tomography of brain was normal and magnetic resonance imaging showed sagittal sinus thrombosis without any evidence of venous infarction or intracranial mass. Routine hematological investigations revealed increased hemoglobin level, packed cell volume and leucocytosis. Further investigation revealed increased Vitamin B12 and decreased serum erythropoietin. A diagnosis of polycythemia vera was made from the above findings. This case is being presented for the rarity of association of polycythemia vera with bilateral advanced papilledema due to sagittal sinus thrombosis.

Diagnosis and treatment of polycythemia vera: Brazilian experience from a single institution

CONTEXT AND OBJECTIVE: Polycythemia vera (PV) is a chronic myeloproliferative disorder characterized by predominant proliferation of erythroid precursors. Few data are available concerning Brazilian patients with this condition. The aim of this study was to describe clinical and demographic characteristics of PV patients at diagnosis and analyze their long-term outcomes. DESIGN AND SETTING: Retrospective study at the Division of Hematology, Faculdade de Medicina da Universidade de São Paulo (FMUSP), São Paulo. METHODS: All consecutive patients with PV diagnosed according to World Health Organization criteria were eligible for this study. Clinical and demographic characteristics, thrombotic events, transformation to acute leukemia, myelofibrosis and survival were evaluated. RESULTS: Sixty-six patients were evaluated. Thirty-six (54.5 percent) were females, with a median age at diagnosis of 61 years. At diagnosis, the median hemoglobin concentration was 18.8 mg/dl and the median platelet count was 593,000/mm³. Fifty-eight patients (88.0 percent) were treated with hydroxyurea with or without phlebotomy. During a median follow-up of 77 months, 22 patients (33.3 percent) had new thrombotic events, mainly of arterial type. The overall incidence of leukemia and myelofibrosis was 0.42 percent per patient-year and 1.06 percent per patient-year, respectively. Median overall survival was not reached and the seven-year survival rate was 77.8 percent. CONCLUSION: The PV patients described here had long survival and arterial thrombotic events were the most important and common complication among this population.

CONTEXTO E OBJETIVO: A policitemia vera (PV) é uma doença mieloproliferativa crônica, caracterizada pela proliferação de precursores hematopoéticos, principalmente da série eritróide. Poucos dados são disponíveis sobre pacientes brasileiros portadores desta doença. O objetivo do presente estudo é analisar as características de pacientes portadores de PV ao diagnóstico e a sua evolução clínica a longo prazo. TIPO DE ESTUDO E LOCAL: Estudo retrospectivo unicêntrico, realizado no Serviço de Hematologia da Faculdade de Medicina da Universidade de São Paulo. MÉTODOS: Foram elegíveis para este estudo os pacientes com PV diagnosticados de acordo com os critérios estabelecidos pela Organização Mundial da Saúde. Foram avaliadas as características demográficas e clínicas ao diagnóstico, as complicações trombóticas, a transformação para leucemia aguda e mielofibrose e a sobrevida. RESULTADOS: Foram avaliados 66 pacientes; 36 (54,5 por cento) eram do sexo feminino, com uma mediana de idade ao diagnóstico de 61 anos. As medianas da concentração de hemoglobina e da plaquetometria ao diagnóstico foram de 18,8 mg/dl e 593.000/mm³, respectivamente. 58 (88,0 por cento) foram tratados com hidroxiuréia associada ou não à flebotomia. Em uma mediana de acompanhamento de 77 meses, 22 (33,3 por cento) pacientes apresentaram eventos trombóticos, predominantemente arteriais. A incidência de leucemia e mielofibrose foi de 0,42/100 pacientes-ano e 1,06/100 pacientes-ano, respectivamente. A mediana de sobrevida global não foi atingida, a taxa de sobrevida em sete anos foi de 77,8 por cento. CONCLUSÃO: Os portadores de PV em nosso serviço apresentaram longa sobrevida. Os eventos trombóticos arteriais foram a principal complicação da população estudada.

Polycythaemia vera.

A rare case of polycythaemia vera occurring in a 60-year-old female has been reported here, along with a brief discussion.

Caracterización de la enterocolitis necrosante asociada a la policitemia neonatal / Characterization of necrozing enterocolitis associated with neonatal polycythemia

Con el objetivo de describir la asociación entre enterocolitis necrosante (ECN) y policitemia neonatal (PN), se evaluaron a 88 neonatos policetémicos no asfixiados. En seis de 26 neonatos tratados con exsanguinodilución (ED) por vía umbilical y en ocho de 41 casos de los tratados por vía periférica, se observó el desarrollo de ECN. Todos los casos con ECN habían sido sometidos previamente a ED. En 21 casos, no sometidos a ED, no se presentaron datos en ECN. No se demostró asociación estadísticamente significativa de la edad gestacional, peso al nacer, valor máximo del hematocrito venoso ni de la vía de acceso vascular para el desarrollo de la ECN. Si hubo diferencia estadística en la edad postnatal en la cual se efectuó el procedimiento de recambio (p = 0.003), entre los grupos con y sin desarrollo de ECN (24 y 32 horas en promedio, respectivamente). Se demostró que en el 20.9 por ciento de los neonatos policitémicos, sometidos al procedimiento de ED, se presentó en ECN y que es probable que el procedimiento haya sido efectuado en un momento de la edad postnatal en que ocurre el ajuste hemodinámico crítico, favoreciendo el desarrollo de la ECN, independientemente de la vía vascular por la cual se efectuó el recambio

Síndrome de Budd-Chiari associada a policitemia "vera": indicaçäo de transplante hepático ou derivaçäo venosa? / Budd-Chiari syndrome associated to polycythemia vera: indication for liver transplantation or venous shunts?

É apresentado um caso de síndrome de Budd-Chiari associado a policitemia vera, em que foi indicado o transplante ortóptico do fígado. Após revisao da literatura acerca da etiologia e terapêutica dessa associaçao, discutem-se os fatores que devem influenciar a decisao a ser tomada entre um transplante de fígado ou uma derivaçao venosa.

Linfoma T de fenotipo inmaduro asociado a una policitemia vera / T lymphoma of immature phenotype associated with polycythenia vera

Se presenta un paciente de 20 años con poliadenopatías, esplenomegalia hiperleucocitosis y una biopsia de médula ósea que mostró una panmielosis con predominio d eelementos inmaduros. El estudio histopatológico de la biopsia de un ganglio linfático sugirió el diagnóstico de leucemia mieloide crónica en crisis blástica. El fenotipo inmunológico de las células blásticas mostró predominio de celulas T con fenotipo inmaduro CS1+, CD7+. El linaje celular T se confirmó por estudios de reordenamiento genético. Presenta además eritrocitosis, saturación arterial de O2 de 92% y trombocitosis, características de policitemia vera. Luego de quimioterapia Vincristina y Prednisona, recae a los dos meses con síntomas similares y con células de ganglio linfático del mismo fenotipo T inmaduro. Se replantea el diagnóstico como linfoma T asociado a un síndrome mieloproliferativo y policitemia, y se lo trata con Ciclofosfamida-Vincristina-VM26-Prednisona. Luego de una segunda recaída, dos meses después, se le indica un protocolo BFM, al que responde parcialmente. Cinco meses después el paciente presenta una tercera recaída, donde las células de ganglio muestran nuevamente fenotipo T inmaduro. No responde a un tratamiento con esquema m-BACOD, la enfermedad progresa, falleciendo luego de una hemorragia masiva por un paro cardiorespiratorio

Eritrocitoses: diagnóstico diferencial e tratamento / Erythrocytosis: differential diagnosis and treatment

O termo Eritrocitose significa aumento do número de glóbulos no sangue circulante como resultado de algum estímulo. No trabalho a seguir os autores fazem uma revisäo das principais causas de Eritrocitoses, incluindo o quadro clínico, a conduta diagnóstica e terapêutica

Coexistent polycythemia vera and smoldering multiple myeloma: report of a case and review of the literature

Polycythemia vera is a myeloproliferative disorder rarely associated with other hematologic malignancies be sides leukemia. Very seldon, an immunoglobulin abnormality may be seen without clinical evidence of a coexistent plasma cell disorder. The association of polycytemia vera and multiple myeloma is extremely rare and in only six of the previously reported cases, both diagnoses were made simultaneously. We report the case of an asymptomatic 58 years old hipertensive male patient who during a routine lalboratory evaluation was found to have thrombocytosis (931,000/mm3) and mild leukocytosis (14,300/mm3). Bone marrow aspiration revealed an increased number of immature plasma cells with absent iron stores. Further laboratory studies were as follows: hemoglobin level 19.6gm/dl; white blood count 19,200/mm3 and platelet count 486,000/mm3. The total serum proteins were 9.1 gm/dl with a serum protein electrophoresis showing hyper gamma-globulinemia (3.2 gm/dl). Immunoglobulin quantitation showed an IgA of 3 gm/dl. The total red cell mass was 38.6cc/Kg and the arterial oxygen saturation was 93%. The leucocyte alkaline phosphatase test score was 271. These studies suggested the coexistence of two diseases: polycythemia vera and multiple mueloma. A detailed description of the clincial manifestations and the laboratory studies of this case as well as a reviwe of the pertinent literature form the basis of this report