Genetically transmitted disorder characterized by
recurrent episodes of fever with abdominal pain, arthritis, or pleurisy.
Incidence is higher in the Mediterranean population.
Carrier state can be as high as 1:5 in at-risk population (Sephardic Jews,
Armenians, Arabs, Turks).
Autosomal recessive. The syndrome is caused by
missense mutations in the MEFV gene located on chromosome 16 leading to
alteration in the shape of the pyrin (or marenostrin) protein, exclusively
found in granulocytes, which is thought to activate the biosynthesis of a
Affected patients lack a specific protease that is
usually present in serosal fluids and that normally inactivates
interleukin-8 and the chemotactic complement factor 5a inhibitor. It is
believed that it accumulates and causes exaggerated inflammatory response.
Based on the clinical course and the presence of
elevated C-reactive protein, erythrocyte sedimentation rate, fibrinogen,
serum amyloid A, and leukocyte count during an acute episode but are
nonspecific. Usually there is no increase in platelets. The diagnosis
usually is made at age approximately 5 years and almost always before age 20
Familial Mediterranean fever (FMF) is
characterized by recurrent episode of fever, serositis, oligoarticular
arthritis, and rash, beginning between the ages of 5 and 15 years and
tending to occur every 2 to 4 weeks. Abdominal pain of short duration is
present in 90% of patients and represents acute peritonitis. Peritoneal
adhesions may form and cause small-bowel obstruction. Acute scrotal pain may
be a manifestation of FMF and should be distinguished from testicular
torsion. Pleuritis occurs in approximately 30% of cases and can lead to
recurrent atelectasis. Monoarticular arthritis involving large joints is
present in up to 70% of patients. The most serious complication of FMF is
amyloidosis of the AA type, which can lead to renal failure and death.
Splenomegaly is a common complication of amyloidosis; other organs are
rarely involved. Amyloidosis is mostly prevalent among Sephardic Jews.
Symptoms of an acute attack appear suddenly and last from a few hours up to
96 hours. The disease has a variable and unpredictable course in each
patient. Prophylactic therapy with colchicine prevents inflammatory attacks
and the development of amyloidosis. The therapy should be continued
throughout pregnancy and during lactation as long-term follow-up does not
reveal any adverse effect on the children. The association of FMF with
seronegative spondyloarthropathies remains controversial.
Laparotomy during an acute episode
should be avoided because it might cause a flare-up of the disease. Evaluate
renal function and test for the presence of proteinuria. Test electrolytes
and acid-base status if severe renal failure is diagnosed. If patient has
presented pleuritis with atelectasis, a chest radiograph should be obtained.
If possible, avoid any type of
anesthesia during an acute episode. If surgery is mandatory during an
attack, avoid regional anesthesia in the context of fever and acute
inflammatory response. Keep in mind that in the presence of pleuritis and ...