Familial Mediterranean fever (FMF) and renal AA amyloidosis--phenotype-genotype correlation, treatment and prognosis.
Familial Mediterranean fever (FMF) is an autosomal recessive disease, which primarily affects the population surrounding the Mediterranean basin. It is characterized by recurrent attacks of fever and peritonitis, pleuritis, arthritis or erysipelas-like erythema. Amyloidosis, causing renal failure, is one of the most severe complications of the disease. The gene associated with FMF (MEFV) has been recently isolated. Phenotype-genotype correlation studies revealed that amyloidosis was more common in FMF patients originating from North-Africa who were homozygous for the M694V mutation. Such a correlation was not found in Turkish patients. The risk of amyloidosis is increased in male FMF patients and in patients bearing polymorphism a/a in the SAA1 gene. Colchicine is the chosen drug for the treatment of FMF and can prevent amyloidosis.
Ben-Chetrit
Eldad
E
Department of Medicine, FMF Clinic, Hadassah University Hospital, Jerusalem, Israel. eldad@hadasah.org.il
D000686:Amyloidosis / Q000235:genetics* / Q000378:metabolism* / Q000628:therapy; D003598:Cytoskeletal Proteins; D010505:Familial Mediterranean Fever; D005838:Genotype; D006801:Humans; D007668:Kidney / Q000378:metabolism*; D009154:Mutation; D010641:Phenotype; D011379:Prognosis; D011506:Proteins / Q000235:genetics; D000071198:Pyrin; D000685:Serum Amyloid A Protein / Q000378:metabolism*
D003598:Cytoskeletal Proteins; C000604192:MEFV protein, human; D011506:Proteins; D000071198:Pyrin; D000685:Serum Amyloid A Protein