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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Familial Mediterranean fever


Other Names for this Disease

  • Benign paroxysmal peritonitis
  • Familial paroxysmal polyserositis
  • FMF
  • Periodic disease
  • Periodic fever
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Tests & Diagnosis

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How is Familial Mediterranean Fever diagnosed?

In making a diagnosis of FMF, doctors take all of these factors into account [1]:
  • Whether the person has the clinical symptoms common for the disease and whether the symptoms are recurrent.
  • How he or she responds to colchicine treatment.
  • Usually a positive family history in people of Middle Eastern ancestry.
  • The results of genetic testing.

Also helpful in establishing a correct diagnosis of FMF is the person's ancestry. Testing for the following can also be helpful:[1]
  • Elevated white blood cell count, which is an indication of an immune response.
  • Elevated erythrocyte sedimentation rate (ESR), which is an indication of an inflammatory response.
  • Elevated plasma fibrinogen, which helps stop bleeding. An elevated amount would indicate that something might be wrong with this mechanism.
  • Elevated serum haptoglobin, which would indicate that red blood cells are being destroyed, a common occurrence in rheumatic diseases, such as FMF.
  • Elevated C-reactive protein, which is a special type of protein, produced by the liver, that is only present during episodes of acute inflammation.
  • Elevated albumin in the urine, which is demonstrated by urinalysis. The presence of the protein albumin in the urine can be a symptom of kidney disease, along with microscopic hematuria (very small - microscopic - amounts of blood or blood cells in the urine), during attacks.
Last updated: 6/13/2011

Is genetic testing for Familial Mediterranean Fever available?

GeneTests lists the names of laboratories that are performing genetic testing for FMF. To view the contact information for the clinical laboratories conducting testing, click here
Last updated: 7/20/2011

References
  1. Learning about Familial Mediterranean Fever. NHGRI Web site. July 2010; http://www.genome.gov/12510679. Accessed 1/19/2012.


Testing

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
Other Names for this Disease
  • Benign paroxysmal peritonitis
  • Familial paroxysmal polyserositis
  • FMF
  • Periodic disease
  • Periodic fever
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.