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What is the treatment for Familial Mediterranean Fever?

Q: My 6 years old son has Familial Mediterranean Fever (FMF). Initially he used to get the attacks every 3 months but since a year this is happening every month. He gets an attack of fever accompanied by peritonitis and pleurisy. We got a blood test done and this is the report: DNA analysis (PCR, ARMS and restriction enzyme) on the DNA extracted from the blood sample of the above mentioned patient for the Pyrin (MEFV) Gene mutations as a diagnostic marker for the Familial Mediterranean fever (FMF) was performed and showed the following: This patient is heterozygous for the mutation M680I and heterozygous for the mutation V726A (Compound Heterozygous), which means that the two copies of the gene are mutated (abnormal). I would like you to tell me what to do for treatment. I have heard that the medicine colchicine has a lot of side effects. I would also like to know what he should eat and what to avoid?

A:There is no doubt about the diagnosis of Familial Mediterranean Fever (FMF). Even though the gene for the disease has been mapped and identified, the exact pathogenesis of the acute episodes is still not known. Many immunological abnormalities have been reported. Of special interest is the deficiency of a C5a inhibitor in peritoneal and synovial fluids of patients. This is probably a consequence of pyrin dysfunction in patients with FMF. Attacks of FMF can be prevented by prophylactic colchicine therapy at a dose of 0.02-0.03 mg/kg/24hr (maximum of 2 mg/24 hr) in one or two divided doses. It not only reduces the frequency of acute attacks, but also greatly reduces the probability of development of amyloidosis and may lead to partial remission of existing amyloidosis. The adverse effects include nausea, vomiting, diarrhoea and abdominal pain. There are no specific precautions as far as diet is concerned.


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