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Evaluation and Management of Chronic Pancytopenia

Richa Sharma and Grzegorz Nalepa
Pediatrics in Review March 2016, 37 (3) 101-113; DOI: https://doi.org/10.1542/pir.2014-0087
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Richa Sharma
*Department of Pediatrics, Division of Pediatric Hematology-Oncology, Indiana University School of Medicine, Indianapolis, IN.
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Grzegorz Nalepa
*Department of Pediatrics, Division of Pediatric Hematology-Oncology, Indiana University School of Medicine, Indianapolis, IN.
†Department of Medical and Molecular Genetics and Department of Biochemistry, Indiana University School of Medicine; Bone Marrow Failure Program, Riley Hospital for Children at IU Health, Indianapolis, IN.
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  1. Richa Sharma, MD*
  2. Grzegorz Nalepa, MD, PhD*,†
  1. *Department of Pediatrics, Division of Pediatric Hematology-Oncology, Indiana University School of Medicine, Indianapolis, IN.
  2. †Department of Medical and Molecular Genetics and Department of Biochemistry, Indiana University School of Medicine; Bone Marrow Failure Program, Riley Hospital for Children at IU Health, Indianapolis, IN.
  • AUTHOR DISCLOSURE

    Dr. Sharma has disclosed no financial relationships relevant to this article. Dr. Nalepa has disclosed that research in his laboratory is supported through NIH Indiana Pediatric Scientist Award, a research grant from the Heroes Foundation, and Barth Syndrome Fund via Riley Children’s Foundation. This commentary does contain a discussion of an unapproved/investigative use of a commercial product/device.

Educational Gap

Diagnostic evaluation and management of children with chronic pancytopenia is highly complex. (1)(2)(3) Clinicians should be aware of the subtle signs and symptoms of acquired and congenital childhood pancytopenias to maintain a high index of suspicion, streamline the referral process, and function within their patients’ multidisciplinary medical homes.

Objectives

After completing this article, readers should be able to:

  1. Identify signs and symptoms of pancytopenia.

  2. Identify patients who require emergency referral due to a life-threatening illness.

  3. Discuss the basics of clinical presentation, diagnostics, and management of childhood severe aplastic anemia.

  4. Discuss the basics of clinical presentation, diagnostics, and management of common genetic syndromes associated with pancytopenia.

  5. Understand the basic concepts behind laboratory tests and be aware of which tests are appropriate in specific clinical situations.

Pancytopenia

Pancytopenia is characterized by a decreased number of at least two blood cell lines. Pancytopenia may progress acutely, such as with decreased blood cell counts in fulminant sepsis, disseminated intravascular coagulation, or rapid hemolysis. Alternatively, pancytopenia may evolve insidiously over weeks to months. In this review we focus on the latter group of acquired and congenital pancytopenias in children.

Chronic pancytopenia is a diagnostic challenge. The range of potential causes is bewildering, signs and symptoms overlap substantially, and many diseases presenting with pancytopenia are life-threatening if not recognized and managed properly. Therefore, clinicians must be familiar with clinical scenarios that should prompt evaluation of blood counts and a pediatric hematology referral.

Causes

Pancytopenia may be …

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Pediatrics in Review: 37 (3)
Pediatrics in Review
Vol. 37, Issue 3
1 Mar 2016
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Evaluation and Management of Chronic Pancytopenia
Richa Sharma, Grzegorz Nalepa
Pediatrics in Review Mar 2016, 37 (3) 101-113; DOI: 10.1542/pir.2014-0087

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Evaluation and Management of Chronic Pancytopenia
Richa Sharma, Grzegorz Nalepa
Pediatrics in Review Mar 2016, 37 (3) 101-113; DOI: 10.1542/pir.2014-0087
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    • Educational Gap
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