Familial Mediterranean fever

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Tests and diagnosis

By Mayo Clinic staff

Tests and procedures used to diagnose familial Mediterranean fever include:

  • Physical exam. Your doctor may ask you about your signs and symptoms and conduct a physical exam to gather more information.
  • Review of your family medical history. A family history of familial Mediterranean fever increases your likelihood of developing the condition because this genetic mutation is passed from parents to their children.
  • 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. Genetic testing may determine if your MEFV gene contains a mutation that is associated with familial Mediterranean fever. Genetic tests aren't advanced enough to test for every gene mutation that's linked to familial Mediterranean fever, so there is a possibility of false-negative results. For this reason, doctors typically don't use genetic tests as the sole method of diagnosing familial Mediterranean fever.
References
  1. Kliegman RM, et al. Nelson Textbook of Pediatrics. 19th ed. Philadelphia, Pa.: Saunders Elsevier; 2011. http://www.mdconsult.com/das/book/body/208746819-6/0/1608/0.html. Accessed Aug. 28, 2012.
  2. Firestein GS, et al. Kelley's Textbook of Rheumatology. 8th ed. Philadelphia, Pa.: Saunders Elsevier; 2009. http://www.mdconsult.com/das/book/body/208746819-6/0/1807/0.html. Accessed Aug. 28, 2012.
  3. Goldman L, et al. Cecil Medicine. 24th ed. Philadelphia, Pa.: Saunders Elsevier; 2012. http://www.mdconsult.com/das/book/body/191371208-2/0/1492/0.html#. Accessed Aug. 28, 2012.
  4. Hashkes PJ, et al. Autoinflammatory syndromes. Pediatric Clinics of North America. 2012;59:447.
DS00766 Oct. 9, 2012

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