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