Myeloproliferative Disease Clinical Presentation

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


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



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]