Pediatric Myelofibrosis Clinical Presentation

Updated: May 12, 2021
  • Author: Trisha Simone Natanya Tavares, MD; Chief Editor: Cameron K Tebbi, MD  more...
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Patients with a predisposing condition presents with a history of that disease. There may be a family history or a history of exposure to ionizing radiation.

Clinical symptoms may be mild and can include insidious onset of signs related to marrow dysfunction and resulting cytopenias. Patients may present with pallor and fatigue due to anemia, with bruising or bleeding due to thrombocytopenia. In some patients, fever, weight loss, night sweats, bone pain, and left upper quadrant pain are reported.

Some patients are asymptomatic at the time of presentation, and the condition is identified as an incidental finding during an evaluation of another condition.

A detailed family history may identify an affected relative. Parental consanguinity may be present in autosomal recessive cases.


Physical Examination

Physical findings reflect the cytokine release, marrow malfunction, and extramedullary hematopoiesis. Symptoms may include, but are not limited to, the following:

  • Pallor (anemia)

  • Bruising, petechiae, or bleeding (thrombocytopenia)

  • Splenomegaly (frequent), hepatomegaly, or lymphadenopathy

  • Stigmata of a predisposing condition

Multiple hemangiomas have been described in 1 affected pair of siblings with idiopathic myelofibrosis (IMF).