Myelofibrosis

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Tests and diagnosis

By Mayo Clinic staff

In people who have no symptoms, a routine medical checkup revealing an enlarged spleen and abnormal blood test results may spark suspicions of a medical problem. If you come to your doctor because of troublesome symptoms, a physical exam and blood tests are likely the first steps your doctor will take.

To confirm a diagnosis of myelofibrosis, you may have imaging studies of your bones, spleen and liver, and examination of a sample of your bone marrow.

  • Physical exam. Your doctor will perform a thorough physical exam. This includes a check of such vital signs as pulse and blood pressure, as well as checks of your lymph nodes, spleen and abdomen.
  • Blood tests. In myelofibrosis, a complete blood count typically shows abnormally low levels of red blood cells, a sign of anemia common in people with myelofibrosis. White blood cell and platelet counts are usually abnormal, too. Often, white blood cell levels are higher than normal, although in some people they may be normal or even lower than normal. Platelet counts may be higher or lower than normal.
  • Imaging tests. Imaging tests such as ultrasound, magnetic resonance imaging (MRI) and computerized tomography (CT) scans can help determine if your spleen and liver are enlarged. Your doctor may be able to detect enlargement of these organs just by feeling your abdomen, but imaging tests can help identify the degree of enlargement.
  • Bone marrow examination. Bone marrow biopsy and aspiration are essential to confirming a diagnosis of myelofibrosis. Because this is a more invasive procedure, it's usually done last, to confirm other test results. In a bone marrow biopsy, a special needle is used to draw a sample of bone marrow from your hipbone. During the same procedure, an aspiration needle may be used to withdraw a sample of the liquid portion of your bone marrow. Studying genetic components (cytogenetic study) of bone marrow sample cells can reveal chromosomal abnormalities and may help to rule out other kinds of bone marrow disorders.
References
  1. Tefferi A. Clinical manifestations and diagnosis of primary myelofibrosis (agnogenic myeloid metaplasia). http://www.uptodate.com/home/index.html. Accessed Oct. 14, 2008. 
  2. Tefferi A. Prognosis and treatment of primary myelofibrosis (agnogenic myeloid metaplasia). http://www.uptodate.com/home/index.html. Accessed Oct. 14, 2008.
  3. Tefferi A. Pathogenic mechanisms in primary myelofibrosis (anogenic myeloid metaplasia). http://www.uptodate.com/home/index.html. Accessed Oct. 14, 2008.
  4. Cervantes F. Modern management of myelofibrosis. British Journal of Haemotology. 2005;128(5):583-92.
  5. Papageorgiou SG, et al. Allogeneic stem cell transplantation as treatment for myelofibrosis. Bone Marrow Transplant. 2006;38(11):721-727.
  6. Idiopathic myelofibrosis. Leukemia & Lymphoma Society. http://www.leukemia-lymphoma.org/attachments/National/br_1190656475.pdf. Accessed Oct. 14, 2008.
  7. Chronic idiopathic myelofibrosis. National Cancer Institute. http://www.cancer.gov/cancertopics/pdq/treatment/myeloproliferative/HealthProfessional/page5. Accessed Oct. 14, 2008.
  8. Myelofibrosis with myeloid metaplasia. MayoClinic.org. http://www.mayoclinic.org/myelofibrosis/treatment.html. Accessed Oct. 14, 2008.
  9. Reduced-intensity transplants. National Marrow Donor Program. http://www.marrow.org/PATIENT/Undrstnd_Disease_Treat/Undrstnd_Treat_Opt/Lrn_BMT_Cord/R_Intensity_Tx/index.html. Accessed Oct. 14, 2008.

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Feb. 3, 2009

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