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    3. Investigation

Polycythemia Vera Investigation

    Polycythemia Vera

    Background


    Polycythemia vera (PV) - PV is a rare illness that causes the body to make too many red blood cells. The most common symptoms of PV are blood clots, heart attacks and strokes. PV has no known cause. A few studies, published more than 25 years ago, reported that PV could possibly be caused by exposure to chemicals (benzene, embalming fluid, petroleum products) or radiation.

    In 2004, a change (mutation) in a gene called JAK2 was found to occur in most PV patients. This mutation is not inherited and causes bone marrow cells to constantly make red blood cells – even when the body signals them to stop. This discovery has now led scientists to search for the cause of the JAK2 mutation in hopes that this knowledge will help them find the cause of PV.

    ATSDR Investigation

    In October 2006, the Pennsylvania Department of Health requested ATSDR’s help in investigating a high number of PV cases reported in Carbon, Luzerne, and Schuylkill counties. ATSDR was asked to make sure that the reported cases actually had PV, and to find any other cases of PV in the tri-county area. A survey of the possible cases was conducted to collect information on work and residence histories, health status, and other factors that might be related to PV. ATSDR’s field work began in November 2006, and was completed in July 2007. In October 2007, ATSDR held a community meeting in Hazleton, Pennsylvania to discuss its findings. ATSDR issued a news release summarizing the findings.

    ATSDR’s analysis of the data concludes that to date:

    • 131 people living in the tri-county area from 2001 to 2005 were diagnosed with PV or self-reported that they might have PV.
    • More than half (52%; 33/64) of the people tested for the JAK2 mutation were confirmed to have it.
    • The 33 people with the JAK2 mutation did not share common occupations, drinking water sources, or other identifiable environmental exposures.
    • The occurrence of PV in the tri-county area during the five year period 2001-2005 is higher than expected.
    • Significant problems exist with correct diagnoses and subsequent reporting to the state cancer registry within the study area.
  • ATSDR continues to analyze these data to determine the geographic patterns of polycythemia vera, and to identify any risk factors that might be linked to particular geographical areas. At this time, ATSDR cannot link polycythemia vera risk with specific environmental exposures or where patients live.

    • Current Activities

    ATSDR activities in the PV investigation in 2008 include:

    • Mapping the home addresses of PV cases at time of diagnosis to identify census tracts and zip codes with the highest PV rates
    • Reviewing environmental data specific to those areas
    • Organizing a meeting with research partners to identify and discuss future research activities
    • Planning a public meeting to discuss with the community the study findings and proposed research activities
    • Generating a community report that describes the investigation and its findings
    • Generating a scientific publication that reports the findings from this investigation and identifies areas for future follow-up and study

    Selected Resources for the Reader

    Tamaqua Area Cancer Incidence Study Report 1996-2002External Link

    Polycythemia Vera (review article in American Family Physician)External Link

    JAK2 Mutation Screening for Diagnosis of Polycythemia Vera and Other Chronic Myeloproliferative DisordersExternal Link

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Update March 13, 2008
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