Familial Mediterranean fever
Other Names for this Disease
- Benign paroxysmal peritonitis
- Familial paroxysmal polyserositis
- Periodic disease
- Periodic fever
Your QuestionWe recently lost a colleague to Familial Mediterranean Fever. Are his siblings at risk to have inherited this condition? Is genetic testing available to individuals at risk?
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Questions on this page
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.
If both parents are carriers:
- Eachsibling of an affected individual has a 25% chance of being affected, a 50% chance of being a carrier (no symptoms of FMF), and a 25% chance of being unaffected and not a carrier.
- If an individual is unaffected, their chance of being a carrier is 67%.
If one parent is affected and one parent is a carrier:
- Each sibling of an affected individual has a 50% chance of being affected and a 50% chance of being as carrier (no symptoms of FMF).
If an individual is unaffected, their chanceof being a carrier is 100%.
- Familial Mediterranean Fever. Genetics Home Reference (GHR). September 2008; http://ghr.nlm.nih.gov/condition=familialmediterraneanfever. Accessed 1/19/2012.
- Learning about Familial Mediterranean Fever. NHGRI Web site. July 2010; http://www.genome.gov/12510679. Accessed 1/19/2012.
- Shohat M, Halpern GJ. Familial Mediterranean Fever. GeneReviews. February 25, 2008; http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=fmf. Accessed 12/9/2008.