الفهرس 
IntroductionOnly 14 pages are availabe for public view
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Abstract
Familial Mediterranean fever (FMF) is an autosomal recessive disorder characterized by recurrent self-limited episodes of fever and serosal inflammation accompanied by a marked acute-phase response. Until recent years the diagnosis of FMF was based on clinical features. Patients with typical clinical features who have been genetically confirmed to have MEFV mutations are defined as phenotype I. A few patients develop amyloidosis without any previous attacks of typical FMF; they are defined as phenotype II patients. Early diagnosis contributes to avoid further unnecessary investigations and therefore, to decrease the costs of management of any FMF phenotype carriers. The subsequent cost recovery could be useful to strengthen genetic counselling and routine screening programs for members of affected families. The most severe manifestation of FMF results from the deposition of amyloid A protein. This protein is presumed to be a cleavage product of serum amyloid A (SAA), an acute-phase reactant produced by the liver. The most common clinical manifestation of FMF-related amyloidosis is the development of the nephrotic syndrome and eventually uremia. The patients are usually normotensive and non-hematuric. Due to widespread use of colchicine, only a minority of FMF patients now presents with amyloidosis. Mortality from FMF usually results from complications of renal failure and amyloidosis, such as infection, thromboembo-lism, and uremia. Other rare complications are joint contractures, abdominal adhesions, and impairment in social development, although patients are capable of physical activity with some limi-tations due to their illness. Treatment of FMF is centered on prevention of painful attacks and the development of amyloidosis. If attacks do occur, nonsteroidal antiinflammatory medication may be used to expectantly treat fever and pain, although it is not always effective. Colchicine is the gold standard and indeed the only recommended drug for treating FMF. It is thought to primarily concentrate in neutrophils and inhibit their increased chemotactic activity during FMF attacks. Colchicine should be administered orally once the diagnosis of FMF is confirmed (or as a therapeutic trial in establishing the diagnosis). In conclusions
FMF is not an uncommon disease.
The disease had many presentations and fever is not an essential component in the diagnosis.
Amyloidosis is the most devastating complication of FMF.
Colchicine treatment can reduce the frequency and severity of attacks and prevent complications including Amyloidosis.
Recommendations
A national study should be performed to determine the prevalence of FMF in Egypt.
Pediatricians should be aware about the various clinical presentations of the disease particularly in infants and young children with recurrent abdominal pain.
Early treatment can prevent complications.
Screening of gene mutations of FMF in patients with recurrent abdominal pain.