Familial mediterranean fever

A 7-year-old Lebanese female had had intermittent episodes of abdominal pain, constipation, vomiting, shortness of breath, chest pain and fever up to 40°C lasting two to three days every one to two months since birth. Over the past year the symptoms had increased in frequency, occurring every one to two weeks. There was no Raynaud's phenomenon, oral ulcerations, alopecia and photosensitivity. Physical examination showed a malar blush but was otherwise normal. The differential diagnosis included the FAPA syndrome, cyclic neutropenia, the hyper-IgD syndrome and familial mediterranean fever (FMF). The clinical findings excluded the first three conditions, and left FMF as the probable diagnosis. This was supported by the fact that the patient had a brother and sister with a similar illness. Untreated FMF frequently leads to amyloidosis. The administration of colchicine is effective at controlling the disease and preventing progression to amyloidosis.