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Pediatric Polycythemia Clinical Presentation

  • Author: Joseph K Park, MD, PhD; Chief Editor: Max J Coppes, MD, PhD, MBA  more...
Updated: Apr 07, 2016


The clinical features associated with polycythemia are a direct result of the increase in red cell mass, which causes an expansion of blood volume. Signs of hyperviscosity and increased metabolism accompany polycythemia. A thorough history must be obtained for a history of cardiac, pulmonary (including sleep apnea), hepatic or renal disease in the patient and a complete family history for evidence of familial polycythemia.[25, 26]

Symptoms include the following:

  • Headache, dizziness, vertigo
  • Weakness or malaise
  • Visual disturbances, tinnitus
  • Diaphoresis
  • Pruritus (especially after exposure to warm water)
  • Erythromelalgia (burning pain, warmth, and redness of extremities)
  • Dyspnea
  • Arthropathies
  • Epigastric discomfort, satiety, constipation, weight loss


A thorough physical examination must be completed and include specific evaluation for signs and symptoms of underlying disease that may cause secondary polycythemia; it must include pulse oximetry, careful cardiac and pulmonary evaluation, and evaluation for signs of renal or hepatic disease.[19]

Signs and symptoms of polycythemia are attributed to the expanded total blood volume and resultant slowing of blood flow. Clinical findings of polycythemia include the following (frequency in parentheses):

  • Splenomegaly (70%)
  • Skin plethora (67%)
  • Conjunctival plethora (59%)
  • Hepatomegaly (40%)
  • Systolic blood pressure >140 mm Hg (72%)
  • Diastolic blood pressure >90 mm Hg (32%)

Evaluating neonates with polycythemia, Vlug et al found thrombocytopenia in 51% (71 out of 140) of these patients and severe thrombocytopenia in 9% (13 out of 140) of them. The investigators also determined, through multiple regression analysis, that thrombocytopenia was independently associated with small size for gestational age. In addition, a negative correlation was found between platelet count and hematocrit.[27]



Primary polycythemias are due to factors intrinsic to red cell precursors.

Polycythemia vera

An activating mutation in the tyrosine kinase JAK2 is the causative factor in polycythemia vera. This mutation is found in more than 95% of patients with polycythemia vera.[10]

The JAK2V617F mutation is a point mutation that causes a substitution of phenylalanine for valine in exon 14. The mutation causes the enzyme to be constitutively active, allowing cytokine-independent proliferation of cell lines that express erythropoietin receptors, causing these cells to be hypersensitive to cytokines. This mutation is seen in polycythemia vera, essential thrombocythemia, and primary myelofibrosis.[10]

Additional JAK2 mutations have been identified in exon 12,[11] JAK2H538-K539delinsI,[28] and others.[29] Exon 12 JAK2 mutations appear specific for polycythemia vera and idiopathic erythrocytosis.[10]

Primary familial and congenital polycythemia (PFCP)

Patients with PFCP are commonly found to have mutations in the EPOR gene. Approximately 14 mutations have been identified.

Chuvash polycythemia

Chuvash polycythemia, a congenital polycythemia first recognized in an endemic Russian population, has mutations in the von Hippel-Lindau (VHL) gene, which is associated with a perturbed oxygen-dependent regulation of Epo synthesis.

Secondary polycythemias

Secondary polycythemias are caused by factors extrinsic to red cell precursors. Generally, these factors lead to insufficient oxygen supply to tissues (hypoxemia), causing an increase in EPO levels.

  • High-altitude erythrocytosis
  • Pulmonary disease - Chronic obstructive pulmonary disease, diffuse pulmonary infiltrates, kyphoscoliosis, chronic cor pulmonale
  • Cyanotic heart disease
  • Hypoventilation syndromes - Obstructive sleep apnea
  • EPO-secreting tumors - Renal cell carcinoma, hepatocellular carcinoma

Polycythemia of the newborn

This usually results from a poor intrauterine environment or hypoxic insult during labor or delivery.

Congenital causes

High-affinity hemoglobin and 2,3-bisphosphoglycerate (2,3-BPG) deficiency are congenital causes.

Contributor Information and Disclosures

Joseph K Park, MD, PhD Paul and Yuanbi Ramsay Endowed Postdoctoral Fellow, Division of Hematology/Oncology, Lucile Packard Children's Hospital at Stanford

Disclosure: Nothing to disclose.


Kathleen M Sakamoto, MD, PhD Shelagh Galligan Professor, Division of Hematology/Oncology, Department of Pediatrics, Stanford University School of Medicine

Kathleen M Sakamoto, MD, PhD is a member of the following medical societies: International Society for Experimental Hematology, American Society of Hematology, American Society of Pediatric Hematology/Oncology, Society for Pediatric Research

Disclosure: Nothing to disclose.

Krysta D Schlis, MD Clinical Assistant Professor of Pediatrics, Lucile Packard Children’s Hospital, Stanford University School of Medicine

Krysta D Schlis, MD is a member of the following medical societies: American Society of Hematology, American Society of Pediatric Hematology/Oncology

Disclosure: Nothing to disclose.

Specialty Editor Board

Mary L Windle, PharmD Adjunct Associate Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Nothing to disclose.

James L Harper, MD Associate Professor, Department of Pediatrics, Division of Hematology/Oncology and Bone Marrow Transplantation, Associate Chairman for Education, Department of Pediatrics, University of Nebraska Medical Center; Associate Clinical Professor, Department of Pediatrics, Creighton University School of Medicine; Director, Continuing Medical Education, Children's Memorial Hospital; Pediatric Director, Nebraska Regional Hemophilia Treatment Center

James L Harper, MD is a member of the following medical societies: American Society of Pediatric Hematology/Oncology, American Federation for Clinical Research, Council on Medical Student Education in Pediatrics, Hemophilia and Thrombosis Research Society, American Academy of Pediatrics, American Association for Cancer Research, American Society of Hematology

Disclosure: Nothing to disclose.

Chief Editor

Max J Coppes, MD, PhD, MBA Executive Vice President, Chief Medical and Academic Officer, Renown Heath

Max J Coppes, MD, PhD, MBA is a member of the following medical societies: American College of Healthcare Executives, American Society of Pediatric Hematology/Oncology, Society for Pediatric Research

Disclosure: Nothing to disclose.

Additional Contributors

Scott S MacGilvray, MD Clinical Professor, Department of Pediatrics, Division of Neonatology, The Brody School of Medicine at East Carolina University

Scott S MacGilvray, MD is a member of the following medical societies: American Academy of Pediatrics

Disclosure: Nothing to disclose.


Kristin Baird, MD Staff Clinician, Pediatric Oncology Branch, National Cancer Institute, National Institutes of Health

Disclosure: Nothing to disclose.

Sun H Choo, MD Resident Physician, Department of Pediatrics, University of California, Los Angeles, David Geffen School of Medicine

Disclosure: Nothing to disclose.

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Bone marrow film at 400X magnification demonstrating dominance of erythropoiesis. Courtesy of U. Woermann, MD, Division of Instructional Media, Institute for Medical Education, University of Bern, Switzerland.
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