Familial Mediterranean fever

Familial Mediterranean fever (FMF) is an inherited autoinflammatory disease characterized by recurrent episodes of fever, abdominal pain, joint pain, and serositis (inflammation of the membranes that cover certain internal organs, such as the pleura and peritoneum). Familial Mediterranean fever is more common in people of Mediterranean descent.

Familial Mediterranean fever is associated with mutations in the MEFV gene, which codes for the pyrin protein. These mutations lead to greater activation of inflammation, triggering recurrent episodes of fever and other characteristic symptoms of the disease.

Typical symptoms of familial Mediterranean fever include:

  • Recurrent fever, generally of short duration but high intensity.
  • Abdominal pain, which can simulate appendicitis.
  • Joint pain, which can affect one or more joints.
  • Serositis, manifested as chest pain due to inflammation of the pleura or abdominal pain due to inflammation of the peritoneum.

The diagnosis of familial Mediterranean fever is made by combining the characteristic clinical presentation and genetic testing to identify mutations in the MEFV gene. It is important to note that not all people with familial Mediterranean fever have mutations in this gene, so the diagnosis can be based solely on clinical presentation in the absence of positive genetic tests.

The main objectives of the treatment of familial Mediterranean fever are to control acute symptoms, prevent future outbreaks and reduce the risk of long-term complications.

Various therapeutic approaches are used, including:

  • Colchicine, which is the treatment of choice for familial Mediterranean fever. It is given continuously in low doses to prevent flares and reduce the risk of amyloidosis.
  • Non-steroidal anti-inflammatories to relieve pain and inflammation during acute episodes.
  • Corticosteroids in more severe or resistant cases.

With adequate treatment, many patients with familial Mediterranean fever can lead a normal life and have a good long-term prognosis. However, the severity of the disease and response to treatment can vary between individuals.