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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 prompt 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, may be used to determine the size of your spleen and others, such as magnetic resonance imaging (MRI), can identify changes in your bones that indicate myelofibrosis.
- Bone marrow examination. Bone marrow biopsy and aspiration can confirm a diagnosis of myelofibrosis. In a bone marrow biopsy, a needle is used to draw a sample of hardened bone marrow from your hipbone. During the same procedure, another type of needle may be used to withdraw a sample of the liquid portion of your bone marrow. The samples are studied in a laboratory to determine the numbers and types of cells found. Studying genetic components of the bone marrow cells can reveal mutations in the cells that may help to rule out other kinds of bone marrow disorders.
- Gene tests. A sample of your blood or bone marrow may be analyzed in a laboratory to look for gene mutations in your blood cells that are associated with myelofibrosis.
References
- Hoffman R, et al. Primary myelofibrosis. In: Hoffman R, et al. Hematology: Basic Principles and Practice. 5th ed. Philadelphia, Pa.: Churchill Livingstone Elsevier; 2009. http://www.mdconsult.com/books/about.do?about=true&eid=4-u1.0-B978-0-443-06715-0..X5001-8--TOP&isbn=978-0-443-06715-0&uniqId=230100505-56. Accessed Dec. 29, 2010.
- Mesa RA. New drugs for the treatment of myelofibrosis. Current Hematologic Malignancy Reports. 2010;5:15.
- Alchalby H, et al. Reduced-intensity conditioning followed by allogenic hematopoietic stem cell transplantation in myelofibrosis. Current Hematologic Malignancy Reports. 2010;5:53.
- Idiopathic myelofibrosis. Leukemia & Lymphoma Society. http://www.leukemia-lymphoma.org/attachments/National/br_1190656475.pdf. Accessed Dec. 30, 2010.
- Thorium. Agency for Toxic Substances and Disease Registry. http://www.atsdr.cdc.gov/toxfaqs/tfacts147.pdf. Accessed Dec. 30, 2010.
- Jakafi (prescribing information). Wilmington, Del.: Incyte Corporation; 2011. http://www.accessdata.fda.gov/scripts/cder/drugsatfda. Accessed Nov. 23, 2011.
- Stein BL, et al. Janus kinase inhibitors: An update on the progress and promise of targeted therapy in the myeloproliferative neoplasms. Current Opinion in Oncology. 2011;23:609.
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