FAMILIAL MEDITERRANEAN FEVER (FMF)
01/05/1980
Facts:
FMF is a disease that predominantly affects populations living in
Mediterranean region and is characterized by recurrent short episodes
of inflammation and serositis.
Carrier rate is as high as one in 5 -7. Complications, Amyloidosis,
which can lead to renal failure is the most severe complication.
Diagnosis is usually done on clinical basis and therapeutic
colchicine response. FMF gene (16p13.3) is formed of 10 exons and encodes
a protein called pyrin that is expressed exclusively in
granulocytes.
Pyrin’s function is to assist in keeping inflammation under
control by de-activating the immune response. Gene mutation produces inadequate pyrin protein with
inappropriate inflammatory reaction of serosal membranes
precipitating an attack of FMF. A significant association is present between the M694V mutation
and the development of amyloidosis. Mutation E148Q is associated with a generally mild form of FMF.
Carriers for this mutation have a low risk – if any for developing
amyloidosis.
Acts:
Molecular genetic testing of FMF gene to confirm the diagnosis
and to detect carriers .Patients with M694V mutation (exon 10) should
be treated with colchicine as soon as the diagnosis is confirmed,
since the drug prevents both the inflammatory attacks and deposition
of amyloid protein.
Treatment with colchicine is less indicated in carriers of
E148Q mutation (exon 2) and should only be given if they develop
severe inflammatory episodes.
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