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Myeloproliferative Disease Clinical Presentation

  • Author: Haleem J Rasool, MD, FACP; Chief Editor: Emmanuel C Besa, MD  more...
 
Updated: Feb 26, 2016
 

History

Presenting complaints in patients with myeloproliferative neoplasms include the following:

  • Easy fatigability
  • Anorexia, weight loss
  • Abdominal discomfort and early satiety secondary to splenomegaly is more common in chronic myelogenous leukemia and primary myelofibrosis
  • Easy bruising, bleeding, and/or symptoms of thrombosis
  • Swollen, painful joint(s) secondary to gouty arthritis secondary to hyperuricemia
  • Priapism, tinnitus, or stupor from leukostasis
  • Left upper quadrant and left shoulder pain as a consequence of splenic infarction and perisplenitis
  • In many patients, abnormal blood counts are noted on a blood test performed for other reasons.

A study by Scherber et al assessed the use of an 18-item assessment form called the Myeloproliferative Neoplasm Symptom Assessment Form (MPN-SAF), which is completed by the patient and is designed to assess symptoms of myelofibrosis, essential thrombocythemia, and polycythemia vera. The study found that the MPN-SAF is a comprehensive and reliable instrument that correlated well with physicians’ blinded opinion of patient symptoms.[17]

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Physical Examination

Physical examination findings in patients with myeloproliferative disease may include the following:

  • Pallor, except in patients with polycythemia vera
  • Plethora secondary to polycythemia
  • Petechiae and/or ecchymosis
  • Palpable spleen and/or liver
  • Occasionally, a syndrome of fever accompanied by painful maculopapular violaceous lesions on trunk, arms, legs, and face, which is called acute febrile neutrophilic dermatosis or Sweet syndrome
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Causes

As with other malignant disorders, the precise cause of myeloproliferative disease is unknown. The etiology is complex, incompletely understood, and likely a multistep process involving more than one gene.

Philadelphia chromosome, t(9:22), is found in most patients who have chronic myelogenous leukemia. Even when the Philadelphia chromosome is negative, the gene bcr-abl, formed as result of t(9:22), tests positive in patients with chronic myelogenous leukemia using molecular techniques. Bcr-abl encodes a fusion protein with tyrosine kinase activity, which is constitutively expressed and is regarded as the central mechanism that underlies the chronic phase of chronic myelogenous leukemia.[18]

In a retrospective study of 11,000 patients in Sweden with myeloproliferative neoplasm, the authors reviewed the incidence of acute myeloid leukemia (AML) and myelodysplastic syndrome that were secondary to treatment; the study found that treatment with radioactive phosphorus but not hydroxyurea increased the risk of myelodysplastic syndrome and AML.[19]

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Contributor Information and Disclosures
Author

Haleem J Rasool, MD, FACP Chair, Department of Oncology, Mayo Clinic Health System, La Crosse, WI

Haleem J Rasool, MD, FACP is a member of the following medical societies: American College of Physicians, American Society of Clinical Oncology, American Society of Hematology

Disclosure: Nothing to disclose.

Specialty Editor Board

Francisco Talavera, PharmD, PhD Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Received salary from Medscape for employment. for: Medscape.

Chief Editor

Emmanuel C Besa, MD Professor Emeritus, Department of Medicine, Division of Hematologic Malignancies and Hematopoietic Stem Cell Transplantation, Kimmel Cancer Center, Jefferson Medical College of Thomas Jefferson University

Emmanuel C Besa, MD is a member of the following medical societies: American Association for Cancer Education, American Society of Clinical Oncology, American College of Clinical Pharmacology, American Federation for Medical Research, American Society of Hematology, New York Academy of Sciences

Disclosure: Nothing to disclose.

Additional Contributors

Koyamangalath Krishnan, MD, FRCP, FACP Dishner Endowed Chair of Excellence in Medicine, Professor of Medicine, James H Quillen College of Medicine at East Tennessee State University

Koyamangalath Krishnan, MD, FRCP, FACP is a member of the following medical societies: Alpha Omega Alpha, American College of Physicians-American Society of Internal Medicine, American Society of Hematology, Royal College of Physicians

Disclosure: Nothing to disclose.

References
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Peripheral smear of a patient with chronic myelogenous leukemia (CML) shows leukocytosis with extreme left shift and basophilia.
Peripheral smear of a patient with chronic myelogenous leukemia (CML) in blastic phase shows several blasts.
Peripheral smear of a patient with essential thrombocythemia (ET) shows markedly increased number of platelets. Some of the platelets are giant (arrow).
Peripheral smear of a patient with agnogenic myeloid metaplasia (myelofibrosis) shows leukoerythroblastosis. This photomicrograph also shows giant platelets.
Photomicrograph of a peripheral smear of a patient with agnogenic myeloid metaplasia (myelofibrosis) shows findings of leukoerythroblastosis, giant platelets, and few teardrop cells.
Table. Comparison of FAB and WHO Classifications of Chronic Myeloproliferative Diseases.
FAB WHO
Chronic myelogenous leukemia Chronic myelogenous leukemia, BCR/ABL1 positive
Polycythemia vera Polycythemia vera
Essential thrombocythemia Essential thrombocythemia
Agnogenic myeloid metaplasia/myelofibrosis Primary myelofibrosis
... Chronic neutrophilic leukemia, not otherwise specified
... Mastocytosis
... Myeloproliferative neoplasms, unclassifiable  
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