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Familial Mediterranean fever

Last revised by Yaïr Glick on 11 Feb 2022

Familial Mediterranean fever (FMF) (also known as recurrent polyserositis) is a genetic autoimmune condition that is notable for its spontaneous self-limiting acute episodes of fever and serositis, especially peritonitis and synovitis.

Familial Mediterranean fever tends to be ethnic specific, the vast majority of patients being Turkish, Jewish, Arabic, and Armenian. The largest number of patients globally are found in Turkey, with a disease prevalence between 1 in 150 to 1 in 10,000 patients 1. It is slightly more common in the male population 1.

Familial Mediterranean fever is characterized by:

  • spontaneous serial acute attacks
    • fever (typically >38°C), and
    • symptoms of serosal inflammation
    • flu-like symptoms common, e.g. arthralgia, myalgia, etc.
  • episodes last minimum 12 hours, subsiding within 3-4 days
  • in 90% the first episode occurs in patients <20 years old
    • in 60% the age of initial onset is <10 years of age

Familial Mediterranean fever is a single gene defect disorder with an autosomal recessive pattern of inheritance. The MEFV gene is found on chromosome 16p13·3 and it encodes a protein named pyrine. Pyrine is important in the regulatory control of apoptosis and inflammation, however its physiology is still being unravelled. Point mutations in MEFV are typically found in those with familial Mediterranean fever.

CT is the mainstay of investigation of familial Mediterranean fever. The findings are non-specific and only seen during an acute episode 3,4:

The diagnosis of familial Mediterranean fever is usually not considered by radiologists/clinicians unless there is a known history of the condition.

Colchicine is the primary therapy and in the pre-colchicine era, the prognosis was very poor. In recent years, anti-interleukin-1 (anti-IL-1) agents, specifically canakinumab 7,8, have been introduced for treatment in patients resistant or unresponsive to colchicine treatment.

  • familial Mediterranean fever is in the differential for an acute abdomen, and occasionally this results in inappropriate surgery 1

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Cases and figures

  • Pancolitis in FMF patient
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