Why Does My Patient Have Erythrocytosis?

https://doi.org/10.1016/j.hoc.2012.02.011Get rights and content

Section snippets

Regulation of erythropoiesis

The interaction of EPO with EPOR on erythroid progenitor cells leads to its homodimerization, which results in initiation of cell division, differentiation, and prevention of apoptosis of erythroid progenitors and precursors.4 The cytoplasmic portion of the EPOR contains a positive regulatory domain that interacts with JAK2.5 On EPO binding, JAK2 phosphorylates itself, EPOR, and other cytoplasmic molecules including STAT5.6 The JAK2/STAT5 signaling pathway plays an important role in

Relative polycythemias

Patients with moderately increased hematocrit levels that are not necessarily accompanied by an increase in red cell mass are often erroneously assumed to be polycythemic.18 Relative polycythemia is a term used to describe an increase of the hematocrit level due either to an acute transient state of hemoconcentration associated with intravascular volume depletion or a chronic, sustained, relative polycythemia caused by contraction of the plasma volume. Transient polycythemia may be a result of

Primary Familial and Congenital Polycythemias

Primary familial and congenital polycythemias (PFCP) is an autosomal dominant disorder.20 Unlike patients with PV, patients with PFCP lack splenomegaly and do not progress to myelofibrosis and acute leukemia. They often present with headaches, epistaxis, exertional dyspnea, and dizziness. An increased risk of cardiovascular events and resulting premature morbidity and mortality have been reported in these patients.21 Although clinical symptoms are resolved with reduction in red cell mass via

Summary

Polycythemia is defined as hematocrit of more than 48% in women and 52% in men.

  • Relative polycythemia is an increase in hematocrit without an increase in red cell mass. It is usually caused by an acute state of hemoconcentration.

  • Accurate history and careful physical examination are essential to determine the cause of erythrocytosis. Many causes of secondary erythrocytosis can be elucidated from history (drug use, pulmonary disease, living at high altitude, smoking, family history). Splenomegaly

First page preview

First page preview
Click to open first page preview

References (104)

  • D.V. Vlahakos et al.

    Posttransplant erythrocytosis

    Kidney Int

    (2003)
  • M.S. Wiesener et al.

    Paraneoplastic erythrocytosis associated with an inactivating point mutation of the von Hippel-Lindau gene in a renal cell carcinoma

    Blood

    (2002)
  • A. Sergeyeva et al.

    Congenital polycythemia in Chuvashia

    Blood

    (1997)
  • S.O. Ang et al.

    Endemic polycythemia in Russia: mutation in the VHL gene

    Blood Cells Mol Dis

    (2002)
  • V.R. Gordeuk et al.

    Congenital disorder of oxygen sensing: association of the homozygous Chuvash polycythemia VHL mutation with thrombosis and vascular abnormalities but not tumors

    Blood

    (2004)
  • M.J. Percy et al.

    Chuvash-type congenital polycythemia in 4 families of Asian and western European ancestry

    Blood

    (2003)
  • J. Kutti et al.

    Epidemiology of the myeloproliferative disorders: essential thrombocythaemia, polycythaemia vera and idiopathic myelofibrosis

    Pathol Biol (Paris)

    (2001)
  • O. Landgren et al.

    Increased risks of polycythemia vera, essential thrombocythemia, and myelofibrosis among 24,577 first-degree relatives of 11,039 patients with myeloproliferative neoplasms in Sweden

    Blood

    (2008)
  • R.L. Levine et al.

    Activating mutation in the tyrosine kinase JAK2 in polycythemia vera, essential thrombocythemia, and myeloid metaplasia with myelofibrosis

    Cancer Cell

    (2005)
  • E.J. Baxter et al.

    Acquired mutation of the tyrosine kinase JAK2 in human myeloproliferative disorders

    Lancet

    (2005)
  • A.V. Jones et al.

    Widespread occurrence of the JAK2 V617F mutation in chronic myeloproliferative disorders

    Blood

    (2005)
  • T.C. Pearson et al.

    Vascular occlusive episodes and venous haematocrit in primary proliferative polycythaemia

    Lancet

    (1978)
  • T. Lamy et al.

    Inapparent polycythemia vera: an unrecognized diagnosis

    Am J Med

    (1997)
  • D. Dingli et al.

    Unexplained pulmonary hypertension in chronic myeloproliferative disorders

    Chest

    (2001)
  • A.I. Schafer

    Bleeding and thrombosis in the myeloproliferative disorders

    Blood

    (1984)
  • M. Ruggeri et al.

    Postsurgery outcomes in patients with polycythemia vera and essential thrombocythemia: a retrospective survey

    Blood

    (2008)
  • F. Passamonti et al.

    A dynamic prognostic model to predict survival in post-polycythemia vera myelofibrosis

    Blood

    (2008)
  • A. Tefferi et al.

    Proposals and rationale for revision of the World Health Organization diagnostic criteria for polycythemia vera, essential thrombocythemia, and primary myelofibrosis: recommendations from an ad hoc international expert panel

    Blood

    (2007)
  • L. Sokol et al.

    Primary familial polycythemia: a frameshift mutation in the erythropoietin receptor gene and increased sensitivity of erythroid progenitors to erythropoietin

    Blood

    (1995)
  • M. Messinezy et al.

    Serum erythropoietin values in erythrocytoses and in primary thrombocythaemia

    Br J Haematol

    (2002)
  • E.D. Zanjani et al.

    Erythropoietin

    Transfusion

    (1989)
  • A. Khwaja

    The role of Janus kinases in haemopoiesis and haematological malignancy

    Br J Haematol

    (2006)
  • G.L. Semenza et al.

    A nuclear factor induced by hypoxia via de novo protein synthesis binds to the human erythropoietin gene enhancer at a site required for transcriptional activation

    Mol Cell Biol

    (1992)
  • P. Carmeliet et al.

    Role of HIF-1alpha in hypoxia-mediated apoptosis, cell proliferation and tumour angiogenesis

    Nature

    (1998)
  • P.H. Maxwell et al.

    The tumour suppressor protein VHL targets hypoxia-inducible factors for oxygen-dependent proteolysis

    Nature

    (1999)
  • M. Ivan et al.

    HIFalpha targeted for VHL-mediated destruction by proline hydroxylation: implications for O2 sensing

    Science

    (2001)
  • M.A. McDonough et al.

    Cellular oxygen sensing: crystal structure of hypoxia-inducible factor prolyl hydroxylase (PHD2)

    Proc Natl Acad Sci U S A

    (2006)
  • F. Formenti et al.

    Cardiopulmonary function in two human disorders of the hypoxia-inducible factor (HIF) pathway: von Hippel-Lindau disease and HIF-2alpha gain-of-function mutation

    FASEB J

    (2011)
  • N.J. Weinreb et al.

    Spurious polycythemia

    Semin Hematol

    (1975)
  • M. Biswas et al.

    Life-threatening thrombotic complications of relative polycythaemia

    J Intern Med

    (2003)
  • L.J. Huang et al.

    Advances in understanding the pathogenesis of primary familial and congenital polycythaemia

    Br J Haematol

    (2010)
  • J.T. Prchal et al.

    “Benign erythrocytosis” and other familial and congenital polycythemias

    Eur J Haematol

    (1996)
  • B.D. Kent et al.

    Hypoxemia in patients with COPD: cause, effects, and disease progression

    Int J Chron Obstruct Pulmon Dis

    (2011)
  • L. Boyer et al.

    Effects of polycythemia on systemic endothelial function in chronic hypoxic lung disease

    J Appl Physiol

    (2011)
  • S.A. Thorne

    Management of polycythaemia in adults with cyanotic congenital heart disease

    Heart

    (1998)
  • O. Trojnarska et al.

    Therapeutic methods used in patients with Eisenmenger syndrome

    Cardiol J

    (2009)
  • A.P. DeFilippis et al.

    Blood is thicker than water: the management of hyperviscosity in adults with cyanotic heart disease

    Cardiol Rev

    (2007)
  • J.T. Carlson et al.

    Secondary polycythaemia associated with nocturnal apnoea–a relationship not mediated by erythropoietin?

    J Intern Med

    (1992)
  • J.C. Moore-Gillon et al.

    Intermittent hypoxia in patients with unexplained polycythaemia

    Br Med J (Clin Res Ed)

    (1986)
  • E. Weitzenblum et al.

    Rev Pneumol Clin

    (2002)
  • Cited by (0)

    Disclosures: None.

    View full text