FMF stands for Familial Mediterranean Fever. It is a rare genetic disorder characterized by recurring episodes of inflammation in the membranes lining the abdomen, joints, and lungs. This autosomal recessive condition typically affects individuals of Mediterranean descent, particularly those from North African, Middle Eastern, and Jewish populations.
The symptoms of FMF typically manifest during childhood, with episodes lasting from 12 to 72 hours. These episodes, also known as flares, are marked by intense pain in the abdomen (accompanied by fever), chest pain, joint swelling, and in some cases, a rash. Flares can be triggered by various factors, such as stress, infections, trauma, physical exertion, or hormonal changes.
Due to the episodic nature of FMF, affected individuals may experience periods of remission where they are asymptomatic. However, without proper treatment, the condition can progressively lead to chronic inflammation and complications such as amyloidosis, an abnormal protein buildup in organs that can result in kidney damage.
Diagnosis of FMF is primarily clinical, based on the characteristic symptoms and genetic testing for mutations in the MEFV gene. Treatment typically involves the use of anti-inflammatory medications, such as colchicine, to manage flares and prevent further complications. In cases of severe or refractory symptoms, other medications may be prescribed.
Early recognition and management of FMF is crucial in minimizing the impact of the disease on an individual's quality of life and preventing long-term complications. Genetic counseling should be considered for affected individuals and their families, as FMF is inherited in an autosomal recessive manner.
