Familial Mediterranean fever (FMF) is a treatable condition that causes recurrent episodes of pain and fever due to uncontrolled inflammation.
FMF can also cause protein buildup in the body, particularly in the kidneys, which can lead to kidney failure if left untreated.
This condition is caused by pathogenic (disease-causing) variants in the MEFV gene and exhibits autosomal recessive inheritance. This means that both parents must be carriers to have a 25% chance to have a child with the condition. The risk of being a carrier is based on a person’s ancestry or ethnic background. For example, individuals of Ashkenazi Jewish descent have a 1 in 13 chance to be a carrier.
Carriers may experience milder symptoms associated with the condition. However, most carriers do not experience any symptoms related to the condition. If you are found to be a carrier, a genetic counselor can talk to you in more detail about this risk and what it means.
Resources:
National Organization for Rare Disorders (NORD)
Genetic and Rare Diseases Information (GARD)
Familial Mediterranean Fever Foundation
Revised October 2023