Characterization of erythrocytosis and a proposed diagnostic algorithm in Slovenia

  • Nataša Debeljak Institute of Biochemistry, Faculty of medicine, University of Ljubljana, Ljubljana, Slovenia
  • Julija Lazarevič Department of Haematology, Division of Internal Medicine, University Medical Centre Ljubljana, Ljubljana, Slovenia
  • Dejan Miskič
  • Lucija Vermiglio Department of Haematology, Division of Internal Medicine, University Medical Centre Ljubljana, Ljubljana, Slovenia
  • Anja Kopitar Department of Haematology, Division of Internal Medicine, University Medical Centre Ljubljana, Ljubljana, Slovenia
  • Anja Solarovič Department of Haematology, Division of Internal Medicine, University Medical Centre Ljubljana, Ljubljana, Slovenia
  • Matjaž Sever Department of Haematology, Division of Internal Medicine, University Medical Centre Ljubljana, Ljubljana, Slovenia
  • Martina Fink Department of Haematology, Division of Internal Medicine, University Medical Centre Ljubljana, Ljubljana, Slovenia
  • Tadej Pajič Department of Haematology, Division of Internal Medicine, University Medical Centre Ljubljana, Ljubljana, Slovenia
  • Saša Anžej Doma Department of Haematology, Division of Internal Medicine, University Medical Centre Ljubljana, Ljubljana, Slovenia
  • Miha Moškon
  • Irena Preložnik Zupan Department of Haematology, Division of Internal Medicine, University Medical Centre Ljubljana, Ljubljana, Slovenia
DOI: https://doi.org/10.6016/ZdravVestn.2880
Keywords: erythrocytosis, diagnostic algorithm, familial erythrocytosis, JAK2 mutation, erythropoietin

Abstract

Erythrocytosis is a condition characterised by increased red blood cell mass in the body. Patients usually present with increased hematocrit, increased haemoglobin concentration and an increased number of red blood cells. Erythrocytosis can be absolute or relative. Absolute erythrocytosis is either primary or secondary, both groups are further divided into congenital and acquired. The characterisation is often problematic and aetiology remains unknown in many patients, resulting in an entity called “idiopathic erythrocytosis”. The aim of this article is to improve the diagnostic methods for erythrocytosis by including further genetic testing into routine clinical practice.

We propose an extended and detailed algorithm for diagnosis of erythrocytosis. We describe the classification of various forms of erythrocytoses, their clinical presentation, genetic background, diagnostic methods and treatment options. By reviewing the 5-year period of JAK2 mutation testing (the first laboratory test performed in a patient with erythrocytosis) we obtained better insight into the prevalence of the disease in Slovenia

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Author Biography

Irena Preložnik Zupan, Department of Haematology, Division of Internal Medicine, University Medical Centre Ljubljana, Ljubljana, Slovenia

Nataša Debeljak,1 Julija Lazarevič,1,2 Dejan Miskič,1,2 Lucija Vermiglio,1,2 Anja Kopitar,1,2 Anja Solarovič,1,2 Matjaž Sever,2 Martina Fink,2 Tadej Pajič,2 Saša Anžej Doma2 in Irena Preložnik Zupan2

1 Institute of Biochemistry, Medical Faculty Univesity of Ljubljana, Vrazov trg 2, 1000 Ljubljana

2 Department of Haematology, University Medical Centre Ljubljana, Zaloška 7, 1525 Ljubljana

 

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Published
2019-05-31
How to Cite
1.
Debeljak N, Lazarevič J, Miskič D, Vermiglio L, Kopitar A, Solarovič A, Sever M, Fink M, Pajič T, Anžej Doma S, Moškon M, Preložnik Zupan I. Characterization of erythrocytosis and a proposed diagnostic algorithm in Slovenia. TEST ZdravVestn [Internet]. 31May2019 [cited 23Apr.2024];88(5-6):263-75. Available from: http://vestnik-dev.szd.si/index.php/ZdravVest/article/view/2880
Issue
Vol 88 No 5-6 (2019): May – June
Section
Review

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