Familial and congenital polycythemias: a diagnostic approach

J Pediatr Hematol Oncol. 2004 Jul;26(7):407-16. doi: 10.1097/00043426-200407000-00002.


The rare absolute polycythemias with an innate and hereditary character can be grouped together under the heading "familial and congenital polycythemias" (FCPs). Primary forms, due to an intrinsic defect in the erythroid progenitor cells, and secondary forms, resulting from extrinsic factors such as an elevated erythropoietin level, have both been reported. Despite the widely divergent characteristics of the different FCPs, the range of possible diagnoses is much more restricted and the distribution of disorders markedly different compared with polycythemias in general. Therefore, in FCP, one can argue against following the algorithm of the Polycythemia Vera Study Group for the evaluation of an elevated hematocrit level, following instead a more specific algorithm. In this article the authors describe a child with primary FCP, review the different FCPs, and propose an adapted work-up scheme.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Algorithms*
  • Diagnosis, Differential
  • Humans
  • Polycythemia / congenital
  • Polycythemia / diagnosis*
  • Polycythemia / genetics
  • Receptors, Erythropoietin / genetics
  • Receptors, Erythropoietin / metabolism
  • Signal Transduction / physiology*


  • Receptors, Erythropoietin