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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
More Names
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Inheritance


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How is Familial Mediterranean Fever (FMF) inherited?

FMF is almost always inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations.[1] As many as 1 in 5 people of Sephardic (non-Ashkenazi) Jewish, Armenian, Arab and Turkish heritage have one mutant copy of the gene and are therefore carriers of FMF, which means they carry the mutant gene but do not suffer from FMF themselves.[2] 

In rare cases, this condition appears to be inherited in an autosomal dominant pattern, in which one copy of the altered gene in each cell is sufficient to cause the disorder and affected individuals often inherit the mutation from one affected parent. However, there are other possible explanations of this apparent pattern. A gene mutation that occurs frequently in a population may result in a disorder with autosomal recessive inheritance appearing in multiple generations in a family, a pattern that mimics autosomal dominant inheritance. If one parent has familial Mediterranean fever (with two mutations in the MEFV gene) and the other parent is an unaffected carrier (with one mutation in the MEFV gene), it may appear as if the affected child inherited the disorder only from the affected parent. This appearance of autosomal dominant inheritance when the pattern is actually autosomal recessive is called pseudodominance.[1]
Last updated: 7/20/2011

References
  1. Familial Mediterranean Fever. Genetics Home Reference (GHR). September 2008; http://ghr.nlm.nih.gov/condition=familialmediterraneanfever. Accessed 1/19/2012.
  2. Learning about Familial Mediterranean Fever. NHGRI Web site. July 2010; http://www.genome.gov/12510679. Accessed 1/19/2012.