Other Names for this Disease
- Polycythemia rubra vera
Your QuestionI was diagnosed with polycythemia vera 20 years ago, and I am JAK2 positive. My brother recently learned that his red blood cell count is very high and will now be seeing a hematologist. Is it strange that my brother may have the same condition, even though it is so rare? I researched a polycythemia vera cluster that occurred in several counties and learned that my brother and I had lived in one of them. Has anyone else researched this issue?
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Most cases of polycythemia vera are not inherited. This condition is associated with genetic changes that are somatic, which means they are acquired during a person's lifetime and are present only in certain cells.
In rare instances, polycythemia vera has been found to run in families. In some of these families, the risk of developing polycythemia vera appears to have an autosomal dominant pattern of inheritance. Autosomal dominant inheritance means that one copy of an altered gene in each cell is sufficient to increase the risk of developing polycythemia vera, although in these cases no causative genes have been identified. In some families that have a cluster of relatives with polycythemia vera, family members may have inherited a set of DNA variations called haplotype 46/1 that increased their risk to acquire a JAK2 mutation which leads to polycythemia vera. In other words, people in these families inherit an increased susceptibility to develop polycythemia vera, not the disease itself.
Another report, published in 2010, discusses how a multidisciplinary group of federal and state agencies, academic institutions, and local healthcare providers developed a research plan designed to better understand the cause of the PV cluster in Pennsylvania. The authors believe their investigation is unique because it has the support of both federal and state public health agencies. They acknowledge that the PV cluster requires assessment of many potential environmental influences such as hazardous waste sites, industrial emissions and waste, and naturally-occurring radiation sources – in addition to possible inherited genetic risk factors. This article can be viewed online for free by clicking here.
The U.S. National Institutes of Health, through the National Library of Medicine, developed ClinicalTrials.gov to provide patients, family members, and members of the public with current information on clinical research studies. Currently, 1 clinical trial is identified as enrolling individuals with familial myeloproliferative disorder (individuals who may have a genetic susceptibility), including polycythemia vera, to determine more about susceptibility. To see information about this trial, click here. This site can be checked often for regular updates; to see current clinical trials being conducted, "polycythemia vera" should be entered as the search term.
- Polycythemia vera. Genetics Home Reference (GHR). 2010; http://ghr.nlm.nih.gov/condition/polycythemia-vera. Accessed 9/21/2010.
- Vannucchi, Alessandro M. and Guglielmelli, Paola. Advances in Understanding and Management of Polycythemia Vera. Current Opinion in Oncology. 2010;
- Seaman V, Jumaan A, Yanni E, Lewis B, Neyer J, Roda P, Xu M, Hoffman R. Use of Molecular Testing to Identify a Cluster of Patients with Polycythemia Vera in Eastern Pennsylvania. Cancer Epidemiology, Biomarkers & Prevention. February, 2009; 18(2):534-540. http://cebp.aacrjournals.org/content/18/2/534.long. Accessed 12/21/2010.
- Vincent Seaman et al. A Multidisciplinary Investigation of a Polycythemia Vera Cancer Cluster of Unknown Origin. International Journal of Environmental Research and Public Health. March 2010; 7(3):1139-1152. http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2872321/?tool=pubmed. Accessed 12/20/2010.