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Familial Mediterranean Fever (FMF) - Recurrent Polyserositis

Synonyms: Armenian Syndrome; Benign Paroxysmal Peritonitis; Familial Paroxysmal Polyserositis; Periodic Amyloid Syndrome; Periodic Peritonitis Syndrome; Reimann Periodic Disease; Siegel-Cattan-Mamou Syndrome.

This autosomal recessive condition¹ (gene on chromosome 16) occurs mainly in Armenians and Sephardic Jews (those who left Spain during the Inquisition and settled in various countries bordering the Mediterranean). The carrier frequency may be as high as 1 in 6 in north African Jews and 1 in 7 in Armenians. Male/Female1.7. Mutations affect the MEFV gene which codes for the inflammatory regulator protein marenostrin/pyrin - an important chemotactic-factor inactivator enzyme in serosal fluids. If this enzyme is absent or not functioning, chemotactic factors released from tissues will not mopped up and an inflammatory spiral is initiated precipitating an attack.

Presentation The majority present in the first decade of life, and only 5% present after age 30.² It is characterised by short, recurrent bouts of abdominal pain (95%), fever (100%), pleurisy (25-80%), Erysipelas-like skin lesion, myalgia, and polyarthritis. Attacks usually last 1-4 days. There may be vomiting, constipation, pericarditis, and peritonitis.
Amyloidosis is a longterm complication.

Investigations Acute-phase reactants such as C-reactive protein, fibrinogen, and serum amyloid A are increased, and the ESR and WCC are raised - but tests are usually normal between attacks. DNA samples from the patient can be analysed for known FMF gene (MEFV) mutations on chromosome 16 (16p13).

Treatment Colchicine 1-2 mg/day is the mainstay of treatment - it prevents attacks and helps symptomatically. It is also important in the prevention of amyloid.

References, footnotes and further reading

1. There may be a rare autosomal dominant variety - see Booth D: The genetic basis of autosomal dominant familial Mediterranean fever. Q J Med 2000 93:217.
2. Ben-Chetrit E: Familal Mediterranean fever. Lancet 1998 351:659.
3. Gedalia A: Familial mediterranean fever in children. J Rheumatol Suppl. 1992 35:1. Review.
4. Stewart L: Familial Mediterranean Fever in a cold climate: read The Lancet. Lancet. 2000 356:2154.

Internet

• Online Mendelian Inheritance in Man

Last issued 30 Aug 2006