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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Presentation

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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