Algorithmic evaluation of hereditary erythrocytosis: Pathways and caveats

Int J Lab Hematol. 2019 May:41 Suppl 1:89-94. doi: 10.1111/ijlh.13019.

Abstract

Multiple algorithms have been published for the evaluation of hereditary erythrocytosis (HE). Typical entry points begin after excluding the more common acquired conditions through investigations of clinical history and assessment of cardiac, pulmonary, or vascular system disorders. Prior exclusion of JAK2 mutations, particularly the common JAK2 V617F mutation, is indicated in adults but less so in pediatric populations. Key decision trees are based on serum erythropoietin levels and p50 results. Recent data reveal some overlap in clinical presentation and laboratory findings in erythrocytosis. Caveats to consider when using algorithmic approaches are discussed.

Keywords: BPGM; EPOR; VHL; HIF2 (EPAS1); PHD2 (EGLN1); congenital polycythemia; oxygen affinity Hb variant.

Publication types

  • Review

MeSH terms

  • Algorithms*
  • Amino Acid Substitution
  • Erythropoietin* / blood
  • Erythropoietin* / genetics
  • Humans
  • Janus Kinase 2* / blood
  • Janus Kinase 2* / genetics
  • Mutation, Missense*
  • Polycythemia / blood
  • Polycythemia / congenital*
  • Polycythemia / diagnosis
  • Polycythemia / genetics
  • Signal Transduction*

Substances

  • EPO protein, human
  • Erythropoietin
  • JAK2 protein, human
  • Janus Kinase 2

Supplementary concepts

  • Polycythemia, primary familial and congenital