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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 some time later.
- 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. About half the people with FMF have a family history of the condition.
- 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 in the United States, 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.
