Familial Polycythaemia Vera

Manoharan, A.; Garson, O. Margaret

doi:10.1111/j.1600-0609.1976.tb02835.x

Cited by 14 publications

(1 citation statement)

References 11 publications

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“…[1] Primary-acquired erythrocytosis involves polycythemia vera (PV), which is characterized by the presence of JAK2 mutations, although these markers are not found in about 1% of patients with PV. [2][3][4] Secondary-acquired erythrocytosis, however, occurs when erythropoietin (EPO) drives the production of red cells. This situation can develop in various cardiac, pulmonary, and renal diseases or from external hypoxic conditions.…”

Section: Introductionmentioning

confidence: 99%

Effects of idiopathic erythrocytosis on the left ventricular diastolic functions and the spectrum of genetic mutations: A case control study

Yesilaltay

Değirmenci²,

Bilgen

et al. 2022

Medicine

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Background: We have aimed at exposing left ventricular diastolic functions and the presence of known genetic mutations for familial erythrocytosis, in patients who exhibit idiopathic erythrocytosis. Methods: Sixty-four patients with idiopathic erythrocytosis (mean age, 46.4 ± 2.7 years) and 30 age-matched healthy subjects were prospectively evaluated. The regions of interest of the erythropoietin receptor, hemoglobin beta-globin, von Hippel-Lindau, hypoxia-inducible factor 2 alpha, and Egl-9 family hypoxia-inducible factor genes were amplified by PCR. Left ventricular (LV) mass was measured by M-mode and 2-dimensional echocardiography. LV diastolic functions were assessed by conventional echocardiography and tissue Doppler imaging. Results: As a result of genetic analyses, genetic mutations for familial erythrocytosis were detected in 5 patients. It has been observed in our study that the risk of cardiovascular disorders is higher in patients. Interventricular septum thickness, left atrial diameter, and some diastolic function parameters such as deceleration time and isovolumetric relaxation time have been found to be significantly higher in idiopathic erythrocytosis group than in the controls. Conclusion: This study has shown that LV diastolic functions were impaired in patients with idiopathic erythrocytosis. In this patient group with increased risk of cardiovascular disorders, the frequent genetic mutations have been detected in 5 patients only. Therefore, further clinical investigations are needed as novel genetic mutations may be discovered in patients with idiopathic erythrocytosis because of cardiovascular risk.

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Section: Introductionmentioning

confidence: 99%

Effects of idiopathic erythrocytosis on the left ventricular diastolic functions and the spectrum of genetic mutations: A case control study

Yesilaltay

Değirmenci²,

Bilgen

et al. 2022

Medicine

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Myeloproliferative disease in two young siblings

Cervantes

Ribera

Sanchez-Bisono

et al. 1984

Cancer

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Two siblings developed a myeloproliferative disease. One of them was a 9‐year‐old girl with a short history of bleeding, whose initial clinical and hematologic features were concordant with idiopathic myelofibrosis. Shortly afterwards this disorder evolved to a leukemic phase which subsequently resulted in the death of the patient. Four years later, at the age of 16, her brother was diagnosed as having acute myelofibrosis, and some months afterwards he died from fulminant pneumonia coincidently with pancytopenia and presence of scarce blast cells in peripheral blood. From the pathogenetic point of view, neither exposure to bone marrow toxins nor bone marrow chromosome abnormalities could be detected. HLA‐typing disclosed the same haplotype (A2, A9, B5, B21, C5) in both patients.

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Environmental, lifestyle, and familial/ethnic factors associated with myeloproliferative neoplasms

Anderson¹,

Duncombe²,

Hughes³

et al. 2011

American J Hematol

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Myeloproliferative neoplasms (MPNs) are characterized by overproduction of mature functional blood cells and are often associated with an acquired genetic mutation of Janus Kinase 2 V617F . The etiology of MPNs remains unknown. The aim of this article was to review and collate all known published data investigating environmental and lifestyle factors associated with MPNs. Medline, Embase, PubMed, Cochrane, and Web of Science were systematically searched using terms for MPNs and observational study designs to identify studies investigating the risk factors for MPNs published before March 2010. Of 9,156 articles identified, 19 met the selection criteria. Although the studies exhibited heterogeneity, in case definitions, study design, and risk factors investigated, several themes emerged. A strong association was found with Jewish descent, and with a family history of MPNs. Autoimmune conditions, specifically Crohn's disease, were more common in patients with MPNs. Certain occupational groups were significantly associated with MPNs including occupations with potential exposure to benzene and/or petroleum. Blood donation was associated with an increased risk of polycythemia vera specifically. The vast heterogeneity in studies identified as part of this review suggests that large scale systematic assessment of etiological factors associated with MPNs is warranted. Am. J. Hematol. 87:175-182, 2012. V V C 2011 Wiley Periodicals, Inc. IntroductionMyeloproliferative neoplasms (MPNs) are a group of hematopoietic malignancies resulting from a transformed hematopoietic progenitor cell. They are characterized by overproduction of mature functional blood cells. MPNs were historically termed myeloproliferative disorders and have undergone numerous amendments in classification. The 2008 World Health Organisation MPN classification groups a number of related disorders including the classic MPNs polycythemia vera (PV), essential thrombocythemia (ET), and primary/idiopathic myelofibrosis (PMF) [1] which will be the focus of this review. Reported incidence rates vary from 0.02 to 2.8 per 100,000 persons [2]. However, incidence rates are not well characterized and half of all patients are asymptomatic at diagnosis [1]. PV and ET are indolent neoplasms with better prognosis (88% and 92% 3-year survival, respectively) compared to PMF which has a 63% 3-year survival in the United States [3].An acquired genetic mutation of Janus kinase 2 (JAK2) V617F is present in the majority of PV patients and in approximately half of patients with ET and PMF [4]. A recent study investigating JAK2 V617F mutations in 10,507 participants of the Copenhagen City Heart Study reported an incidence rate of 171 per 100,000 persons [5]. These participants had higher overall morbidity and mortality than those who were JAK2 V617F negative; however, 28% did not develop any malignancy during the 17.6-year follow-up [5] [12]. The population attributable risk of 46/1 JAK2 in PV patients has been estimated at 28%, explaining approximately 50% of the increased risk of...

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Familial Polycythaemia Vera

Cited by 14 publications

References 11 publications

Effects of idiopathic erythrocytosis on the left ventricular diastolic functions and the spectrum of genetic mutations: A case control study

Effects of idiopathic erythrocytosis on the left ventricular diastolic functions and the spectrum of genetic mutations: A case control study

Myeloproliferative disease in two young siblings

Environmental, lifestyle, and familial/ethnic factors associated with myeloproliferative neoplasms

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