Myeloproliferative Disease Clinical Presentation
- Author: Haleem J Rasool, MD, FACP; Chief Editor: Emmanuel C Besa, MD more...
Presenting complaints in patients with myeloproliferative neoplasms include the following:
Anorexia, weight loss
Easy bruising, bleeding, and/or symptoms of thrombosis
Swollen, painful joint(s) secondary to gouty arthritis secondary to hyperuricemia
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.
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.
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.
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|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|
|...||Myeloproliferative neoplasms, unclassifiable|