Overview

Tests and procedures used to diagnose familial Mediterranean fever include:

  • Physical exam. Your health care provider may ask you about your signs and symptoms and do a physical exam to gather more information.
  • Review of your family medical history. A family history of Familial Mediterranean fever (FMF) increases your likelihood of developing the condition because this genetic change is passed from parents to their children.
  • Lab tests. During an attack, blood and urine 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. Protein in the urine that may indicate amyloidosis is another.
  • Genetic testing. Genetic testing may determine if your MEFV gene contains a gene change that is associated with FMF. Genetic tests aren’t advanced enough to test for every gene change that’s linked to FMF, so there is a possibility of false-negative results. For this reason, health care providers typically don’t use genetic tests as the sole method of diagnosing FMF.

Genetic testing for FMF may be recommended for your first-degree relatives, such as parents, siblings or children, or for other relatives who may be at risk. Genetic counseling can help you understand gene changes and their effects.


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