Familial Mediterranean fever
Other Names for this Disease
- Periodic peritonitis
- Recurrent polyserositis
- Benign paroxysmal peritonitis
- Periodic disease
- Familial paroxysmal polyserositis
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Your QuestionMy son has been found to carry a single familial Mediterranean fever (FMF) gene mutation. Could he still have FMF?
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Questions on this page
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.
Last updated: 6/29/2012
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
- Medlej-Hashim M, Nehme N, Chouery E, Jalkh N, Megarbane A. Novel MEFV transcripts in Familial Mediterranean fever patients and controls. BMC Med Genet. 2010 Jun 9;11:87; http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2894788/?tool=pubmed. Accessed 8/24/2011.