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Related Experiment Videos

Familial polycythemia vera.

R L Miller, J D Purvis, J K Weick

    Cleveland Clinic Journal of Medicine
    |November 1, 1989
    PubMed
    Summary
    This summary is machine-generated.

    Familial polycythemia vera occurred in a four-member family and 31 individuals across 13 kindreds. Genetic factors may play a role in this myeloproliferative disorder.

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    Area of Science:

    • Hematology
    • Genetics
    • Oncology

    Background:

    • Polycythemia vera is a myeloproliferative neoplasm characterized by excessive red blood cell production.
    • Familial occurrences of polycythemia vera suggest a potential genetic predisposition.

    Purpose of the Study:

    • To report a case of polycythemia vera in a four-member family.
    • To review 13 kindreds with familial polycythemia vera involving 31 members.
    • To compare clinical and laboratory findings of familial and non-familial polycythemia vera.

    Main Methods:

    • Retrospective review of comprehensive medical records for familial and non-familial cases.
    • Analysis of clinical data including age at diagnosis, sex, symptoms, and splenomegaly.
    • Evaluation of laboratory data such as red blood cell volume, leukocytosis, thrombocytosis, and leukocyte alkaline phosphatase levels.

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  • Assessment of chromosomal abnormalities.

    • Main Results:

    • Familial polycythemia vera cases showed similarities to non-familial cases in age at diagnosis, sex distribution, symptoms, chromosomal abnormalities, leukocytosis, thrombocytosis, and elevated leukocyte alkaline phosphatase.
    • Familial cases exhibited a higher mean red blood cell volume at diagnosis and a greater incidence of splenomegaly compared to non-familial cases.
    • Thirteen kindreds comprising 31 members with familial polycythemia vera were identified.

    Conclusions:

    • While clinical and laboratory features are largely similar, familial polycythemia vera may present with increased red blood cell volume and splenomegaly.
    • The exact mode of inheritance remains undetermined.
    • Genetic factors are likely implicated in the pathogenesis of polycythemia vera, suggesting a hereditary component.