Familial Mediterranean fever

Familial Mediterranean fever is an autosomal recessive hereditary inflammatory disease characterized by episodes of fever and inflammation of the peritoneum, pleura, joints or skin.

Familial Mediterranean Fever (FMF) is the most important of the group of inherited autoinflammatory diseases, characterized by recurrent and limited episodes of fever, inflammation of the membrane of the joints, inflammation of the serous membrane lining the lungs, heart, abdominal cavity and testicular cavity, skin rash and, in some cases, development of amyloidosis (a disorder in which amyloidosis accumulates).It is characterized by recurrent and limited episodes of fever, inflammation of the joint membrane, inflammation of the serous membrane lining the lungs, heart, abdominal cavity and testicular cavity, skin rash and, in some cases, development of amyloidosis (a disorder in which abnormal proteins accumulate in tissues and organs).

FMF is a common disease in the Jewish, Armenian, Turkish and Arab communities, with prevalence ranging from 1 case in 200 to 1 case in 1,000 individuals. It is a disease that originated in the Mediterranean and has spread to other regions due to migration, such as Italy, Spain and Greece. Some cases have even been detected in Japan.

Symptoms

The first attacks of FMF usually occur during the first two decades of life and rarely appear after the age of 40. As the years go by, the frequency and severity of attacks decrease.

FMF presents with inflammation of the lining of the abdominal and thoracic cavities, skin or joints, accompanied by high fever that usually peaks between 12 and 24 hours. Attacks may last from 6 hours to 4 days, and symptoms and severity vary from person to person, even among members of the same family. Many patients experience discomfort before suffering an FMF attack.

Symptoms may include repeated episodes of:

  • Abdominal pain
  • Chest pain that is sharp and gets worse when taking a breath
  • Fever or alternating chills and fever
  • Joint pain
  • Red, swollen skin lesions ranging from 5 to 20 centimeters in diameter

Amyloidosis is the main complication of FMF, does not occur in all patients and mainly affects the kidneys.

Prevention

There is no cure for FMF. The treatment used to prevent the onset of seizures and amyloidosis is colchicine therapy. This is a treatment that has been used since 1970 to treat patients with FMF and reduce the inflammatory response. For patients who do not respond to colchicine therapy there are other alternatives such as the interleukin-1 or IL-1 inhibitors Anakinra and Canakinumab.

Genes analyzed

MEFV

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