Familial Mediterranean Fever (FMF) is an inherited genetic disorder characterized by recurrent, acute attacks of intense pain, lasting 2 to 3 days, usually in the abdomen, chest, or joints. FMF is often accompanied by fever and sometimes a rash. It is most prevalent in people of Armenian, Arab and Turkish descents. The underlying cause of the disorder is the defective MEFV gene, which creates proteins involved in reducing inflammation, but what factors trigger the episodes is still being researched.
What are the symptoms involved in FMF?
- Recurrent bouts of fever, usually with severe abdominal pain
- Arthritis (painful, swollen joints)
- Chest pain from inflammation of the lung cavity
- Skin rashes
- Some individuals develop a potentially harmful buildup of protein in vital organs such as the kidneys (known as amyloidosis)
How is FMF diagnosed?
Recent developments in genetic testing have allowed us to detect the FMF gene mutation by molecular testing (PCR) of a blood sample.
The following tests may also be indicative:
- Elevated white blood cell count in CBC
- Elevated erythrocyte sedimentation rate (ESR)
- Elevated serum haptoglobin
- Elevated C-reactive protein
- Elevated plasma fibrinogen