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REVIEW article

Front. Med.
Sec. Hematology
Volume 11 - 2024 | doi: 10.3389/fmed.2024.1419092
This article is part of the Research Topic Differential Diagnosis of Erythrocytosis and Analysis of Their Clinical Utility View all articles

Erythrocytosis in congenital heart defects: hints for diagnosis and therapy from a clinical case

Provisionally accepted
Oscar Borsani Oscar Borsani 1,2Marzia Varettoni Marzia Varettoni 2Giacomo Riccaboni Giacomo Riccaboni 1Elisa Rumi Elisa Rumi 1,2*
  • 1 Department of Molecular Medicine, University of Pavia, Pavia, Italy
  • 2 Department of Hematology, San Matteo Hospital Foundation (IRCCS), San Matteo, Italy

The final, formatted version of the article will be published soon.

    Erythrocytosis is one of the most common abnormalities that clinical hematologists, general practitioners, and internal medicine specialists could have to face off in their routine clinical practice. While diagnostic criteria for primary erythrocytosis (i.e. polycythemia vera) are well known and characterized, there are several causes of secondary erythrocytosis that should be kept in mind to avoid misdiagnosis.Congenital heart defects are rarely cause of secondary erythrocytosis as they are normally recognized and treated at an early stage.Eisenmenger syndrome is a complex clinical syndrome that arise as consequence of an untreated congenital heart defect associated with large intracardiac shunt. The clinical picture of this syndrome usually includes a severe erythrocytosis that could tempt clinicians to start an intensive phlebotomy (or venesection) program. However, clinicians should be aware that erythrocytosis in Eisenmenger syndrome is a compensatory mechanism aimed at improving blood oxygen-carrying capacity; accordingly, phlebotomies should be reserved for those cases complaining hyperviscosity symptoms.Here we present a case of an adult female patient with Eisenmenger syndrome that has been evaluated because of severe and persistent erythrocytosis. In this case we present a step-by-step approach by which clinical hematologist could proceed to reach the definitive diagnosis. We'll also provide some hints that could help clinicians when choosing the best treatment strategy to avoid unnecessary and potentially harmful procedures.

    Keywords: Erythrocytosis, congenital, Heart, Eisenmenger, syndrome

    Received: 17 Apr 2024; Accepted: 30 May 2024.

    Copyright: © 2024 Borsani, Varettoni, Riccaboni and Rumi. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

    * Correspondence: Elisa Rumi, Department of Molecular Medicine, University of Pavia, Pavia, Italy

    Disclaimer: All claims expressed in this article are solely those of the authors and do not necessarily represent those of their affiliated organizations, or those of the publisher, the editors and the reviewers. Any product that may be evaluated in this article or claim that may be made by its manufacturer is not guaranteed or endorsed by the publisher.