Familial Mediterranean fever (FMF) an inherited autoinflammatory disorder characterized by repeated episodes of fever and inflammation. While this genetic condition can affect people of any ethnicity, it is most prevalent in those of Mediterranean and Middle Eastern descent (Arab, Armenian, Sephardic Jewish and Turkish descent). FMF is caused by genetic variants in the MEFV gene.
Inflammation is necessary for wound healing, and is a normal response directed by the immune system. The pyrin protein (encoded by the MEFV gene) plays a role in turning off the inflammatory response when it is no longer necessary. People affected by FMF produce an abnormal pyrin protein, which results in uncontrolled inflammation.
Take this test to find out if you are at risk of developing FMF and/or passing a pathogenic variant on to your children.
FMF is caused by genetic variation in the MEFV gene, which inhibits the inflammation control function of the pyrin protein. FMF is inherited in an autosomal recessive pattern, which means two defective copies of the MEFV gene must be inherited in order for the disease to manifest.
This test detects seven genetic variants, which account for at least 70% of FMF cases in people of Arab, Armenian, Sephardic Jewish and Turkish descent.
This test detects seven genetic variants in the MEFV gene, which cause familial Mediterranean fever.
- rs28940580 G (M680I)
- rs28940578 T (M694I)
- rs61752717 C (M694V)
- rs104895094 C (K695R)
- rs28940579 G (V726A)
- rs61732874 A (A744S)
- rs104895097 T (R761H)
Treatment options are available to effectively control the fever and inflammation that is characteristic of FMF to prevent organ damage.
Understanding your genetic risk can help you determine early on the treatment option that is right for your to manage the symptoms of FMF.
Symptoms during an episode include:
- Pain in the abdomen, chest, joints, pelvis and muscles
- Ankle and feet rash
Generally affected people are healthy between episodes, unless episodes are very frequent, which can affect recovery and growth.
How It Works
Step 1: Sign up for a free DNA Access account.
Step 2: Upload your DNA markers to DNA Access.
Step 3: Log in to your account to access your results when they are ready.