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Familial myeloproliferative disease.

H S Gilbert1

  • 1Albert Einstein College of Medicine, Bronx, New York 10025, USA.

Bailliere'S Clinical Haematology
|January 20, 2000
PubMed
Summary

Familial myeloproliferative disease (MPD) occurs more often than previously thought, with diverse MPD types appearing within the same family. This challenges the belief that MPD is typically sporadic.

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Area of Science:

  • Hematology
  • Genetics
  • Oncology

Background:

  • Myeloproliferative disease (MPD) has been considered largely sporadic.
  • Previous reports of familial MPD often showed a single MPD type within affected families.

Purpose of the Study:

  • To investigate the frequency and phenotypic heterogeneity of familial MPD.
  • To challenge the notion that familial MPD is rare and always presents with a single disease type.

Main Methods:

  • Analysis of MPD occurrence across 42 families.
  • Review of patient data, including MPD variants and generational patterns.
  • Utilizing internet-based surveys to identify familial MPD cases.

Main Results:

  • MPD was observed across one, two, or three generations in 42 families.
  • Twenty-one of the 42 families exhibited multiple MPD variants among affected members.
  • Phenotypic heterogeneity is consistent with clonal expansion from a pluripotential hematopoietic precursor cell (PHPC).

Conclusions:

  • Familial MPD is more common and phenotypically diverse than previously believed.
  • MPD variants may arise from a common clonal origin, exhibiting different phenotypes.
  • Further research into familial MPD inheritance and causative mutations is warranted.

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