familial mediterranean fever

Last edited 04/2022 and last reviewed 04/2022

Familial Mediterranean fever (FMF) is characterized be episodes of fever, peritonitis and/or pleuritis

• is an autosomal-recessive, hereditary auto-inflammatory disease and has a reference in the Online Mendelian Inheritance in Man database (OMIM) ID: 249100
• FMF occurs as a result of mutations in the MEditerranean FeVer (MEFV gene)
  • is the only gene currently known to be associated with FMF and is located on chromosome 16
• primary characteristic of FMF is
  • recurrent fever and serositis
    • which results in pain in the abdomen, chest, joints, muscles, etc.
  • amyloidosis, skin lesions and arthritis may be seen in these patients
    • the most severe complication of FMF is amyloid A (AA) amyloidosis leading to renal failure
      

This condition occurs most often in non-Ashkenazi Jews, Armenians and Arabs. It is not restricted to these groups and may occur in, among others, people of Ashkenazi Jewish, Italian, and Anglo-saxon descent.

There are mainly two phenotypes in FMF

• Type 1 is commonly associated with recurrent short episodes of inflammation and serositis, including fever, peritonitis, synovitis, pleuritis, and rarely
  pericarditis and meningitis
  • symptoms and severity vary from one person to another
  • typical clinical manifestations of FMF type 1 usually last from 12 to 72 hours and include the following typical attacks (2):
    • 1) recurrent fever, characterized by a temperature ranging from 38 degrees C to 40 C;
    • 2) abdominal attacks, featuring abdominal pain (usually the entire abdomen is involved);
    • 3. arthritic attacks, frequently featuring as monoarthritis localized in the large joints of the leg (hip, knee, ankle);
    • 4. chest attacks, including pleuritis and pericarditis;
    • 5. pre-attack symptoms, occurring 12 to 24 hours before any FMF attacks, usually including discomfort, abnormal taste sensation,
      dizziness, increased appetite, irritability, etc.
• Type 2 FMF is characterized by amyloidosis as the first clinical manifestation of the disease, in otherwise asymptomatic people

A systematic review with respect to interventions in familial Mediterranean fever (1):

• based on limited evidence, review (10 RCTs; n= 312) found three times daily colchicine may reduce number of attacks and outcomes after single dose and divided doses may not be different in children
• for colchicine-resistant disease, anakinra and canakinumab might be effective

Reference:

• Yin X, Tian F, Wu B, Xu T. Interventions for reducing inflammation in familial Mediterranean fever. Cochrane Database of Systematic Reviews 2022, Issue 3. Art. No.: CD010893. DOI: 10.1002/14651858.CD010893.pub4
• Lidar M et al.The prodrome: aprominent yet overlooked preattack manifestation of familial Mediterranean fever. Journal of Rheumatology 2006;33(6):1089-92.