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Tests and diagnosis
By Mayo Clinic staffNo specific test is available to detect familial Mediterranean fever. After ruling out other diseases, your doctor makes a diagnosis based on a combination of the following factors:
- Signs and symptoms. The most common signs and symptoms of familial Mediterranean fever are an unexplained, abrupt fever and severe pain in your abdomen, chest or joints. The abdominal pain may mimic appendicitis (inflammation of the appendix). These problems tend to improve spontaneously and then recur at a later time.
- Family history. A family history of familial Mediterranean fever increases your likelihood of developing the condition because the genetic mutation is passed from parents to their children.
- Ethnicity. Familial Mediterranean fever most often develops in people of Mediterranean origin, including Sephardic Jews, Armenians, Turks, North Africans, Arabs, and less frequently, Greeks and Italians. The condition has also been diagnosed in other ethnic groups, including Ashkenazi Jews, so FMF can't be diagnosed based on ethnicity alone.
- Blood tests. During an attack, blood tests may show elevated levels of certain markers that indicate an inflammatory condition in your body. An elevated level of white blood cells, which fight infections, is one such marker.
- Genetic testing. This test may determine if your genes have mutations that are associated with familial Mediterranean fever. Doctors don't commonly use genetic testing as a diagnostic tool because the available tests don't assess for all the gene mutations associated with the disorder. However, genetic testing may help confirm a diagnosis of FMF in people with atypical signs or symptoms.
References
- Familial Mediterranean fever. The Merck Manuals: The Merck Manual for Healthcare Professionals. http://www.merck.com/mmpe/print/sec19/ch297/ch297b.html. Accessed May 28, 2010.
- Kastner DL. Familial Mediterranean fever. In: Fauci AS, et al. Harrison's Principles of Internal Medicine. 17th ed. New York, N.Y.: McGraw-Hill; 2008. http://www.accessmedicine.com/content.aspx?aID=2899961. Accessed May 28, 2010.
- Fonnesu C, et al. Familial Mediterranean fever: A review for clinical management. Joint Bone Spine. 2009;76:227.
- Rosenberg PM, et al. Clinical manifestations and diagnosis of familial Mediterranean fever. http://www.uptodate.com/home/index.html. Accessed June 1, 2010.
- Galip G, et al. Current perspectives on familial Mediterranean fever. Current Opinion in Infectious Diseases. 2009;22:309.
- Rosenberg PM, et al. Management of familial Mediterranean fever. http://www.uptodate.com/home/index.html. Accessed June 1, 2010.
- Ben-Chetrit E, et al. Familial Mediterranean fever in the world. Arthritis and Rheumatism. 2009;61:1447.
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