Laboratory Studies

The following laboratory findings can be seen in polycythemia. The reference range values for the clinician's laboratory findings in polycythemia should be cross-correlated.

Complete blood count (CBC): Leukocytosis and thrombocytosis are commonly observed but not universal in patients with polycythemia. Leukocytes are greater than 12 X 10 ⁹/L; platelets are greater than 400 X 10 ⁹/L. Large platelets are often observed. Platelets can be morphologically and qualitatively abnormal. Red cell mass is greater than 36 mL/kg in men and greater than 32 mL/kg in women. RBCs often have anisocytosis, basophilic stippling, and polychromatophilia.
Serum erythropoietin (Epo): Elevated serum Epo levels can be used to distinguish polycythemia vera (PV) from secondary polycythemia. Elevated Epo levels are observed in secondary polycythemia. Low Epo levels suggest primary familial and congenital polycythemia (PFCP) or polycythemia vera, but Epo levels may be normal.
Elevated sedimentation rate
Spurious hyperkalemia or hypokalemia
Increased blood viscosity
Artifactual prolongation of coagulation studies

The following laboratory findings and tests can be helpful in determining the etiology of polycythemia:

Gene testing: Screen for EPOR mutation and JAK2 mutation if primary polycythemia is suspected
Molecular analysis: Consider molecular analysis of the VHL gene
Oxygen dissociation curves and hemoglobin electrophoresis can be used to assess for high–oxygen-affinity mutants and 2,3-disphosphoglycerate (2,3-DPG) deficiency
Urinalysis can reveal microscopic hematuria, a sign of renal disease
Elevated serum glucose and hypokalemia can suggest functioning endocrine tumors
Liver panel abnormalities can suggest the presence of liver disease
Co-oximetry should be performed in all patients in whom CO poisoning or congenital methemoglobinemia is suspected
P ₅₀, or the oxygen partial pressure at which hemoglobin is 50% saturated with oxygen, is reduced in high-affinity hemoglobins

A study by Cacemiro et al indicated that compared with patients with polycythemia vera, those with secondary polycythemia have lower plasma levels of the cytokines interleukin-17A (IL-17A), interferon-γ (INF-γ), IL-12p70, and tumor necrosis factor-α (TNF-α). Consequently, the investigators suggested that the cytokine production profile of secondary polycythemia may be useful in distinguishing that disease from polycythemia vera.^[34]

Imaging Studies

The following imaging studies can be helpful in determining the etiology of polycythemia:

Abdominal ultrasonography is helpful in excluding underlying renal and hepatic pathology
Chest radiographs may provide clues to pulmonary or cardiac etiologies to polycythemia
Computed tomography (CT) scanning of the chest, abdomen, pelvis, or head is helpful to evaluate for tumors, cancer, or other pathology

Other Tests

The need for bone marrow biopsy is still controversial. Biopsy is not a part of the diagnostic criteria. It may be helpful when trying to differentiate polycythemia vera from other myeloproliferative disorders and to assess the degree of fibrosis.

Cytogenetics are not routinely performed but should be used if the diagnosis is questionable and if the differential includes malignancy, myelodysplastic syndrome, or other myeloproliferative disorders.

Histologic Findings

If a bone marrow biopsy is performed, the marrow in polycythemia vera is typically hypercellular, including all marrow elements and displaced marrow fat. The number of megakaryocytes is usually increased with wide variation in size. Stainable iron is decreased or absent, and, later in the disease course, fibrosis and marrow reticulin fibers are increased.^[35]

Treatment & Management

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Media Gallery

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.

of 1

Author

May C Chien, MD Clinical Assistant Professor, Department of Medicine, Division of Hematology, Clinical Assistant Professor, Department of Pediatrics, Division of Hematology and Oncology, Associate Director, Hematology Block, Science of Medicine Course, Stanford University School of Medicine

May C Chien, MD is a member of the following medical societies: American Academy of Pediatrics, American College of Physicians, American Society of Clinical Oncology, American Society of Hematology, American Society of Pediatric Hematology/Oncology, Children's Oncology Group, Sigma Xi, The Scientific Research Honor Society

Disclosure: Nothing to disclose.

Coauthor(s)

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: American Association for Cancer Research, American Society of Hematology, American Society of Pediatric Hematology/Oncology, International Society for Experimental Hematology, Society for Pediatric Research, Western Society for Pediatric Research

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

Lawrence C Wolfe, MD Associate Chief for Hematology and Safety, Division of Pediatric Hematology-Oncology, Cohen Children's Medical Center

Lawrence C Wolfe, MD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Pediatrics, American Association of Blood Banks, American Society of Hematology, Children's Oncology Group, Eastern 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.

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.

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.

Acknowledgements

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.