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Diseases

Genetic and Rare Diseases Information Center (GARD)

Familial Mediterranean fever


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

Your Question

My son has been found to carry a single familial Mediterranean fever (FMF) gene mutation. Could he still have FMF?

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

Can a person have familial Mediterranean fever if they are found to carry only one gene mutation?

Yes. Although most people with familial Mediterranean fever (FMF) have two mutations in the MEFV gene, some people with FMF have only a single gene mutation identified by genetic testing. Individuals with one mutation tend to have milder symptoms than those with two mutations.[1]
Last updated: 6/29/2012

How can I find a genetics professional in my area?

To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by GeneTests, the American College of Medical Genetics, and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from Genetics Home Reference.
Last updated: 7/15/2016

References
Other Names for this Disease
  • Periodic peritonitis
  • Recurrent polyserositis
  • Benign paroxysmal peritonitis
  • Periodic disease
  • Familial paroxysmal polyserositis
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.