Renal amyloidosis due to familial mediterranean fever misdiagnosed
The patient is a 30-year-old female. She has been having periodic episodes of high fever, usually lasting less than 3 days, at 1-to 3-month intervals since she was 22 years old. The fever was often accompanied by diarrhea and abdominal pain. The patient had no medical follow-up for several months. During a severe episode, she was admitted to hospital and diagnosed with AA amyloidosis responsible of a chronic renal failure. The patient has no family history of recurrent episodes of fever. Her parents are not consanguineous. The symptomatic occurrence of periodic fevers with spontaneous improvement within 3 days suggested a possible diagnosis of FMF. After obtaining informed consent, DNA sequencing of exon 10 of the MEFV gene was performed. We found that the patient is compound heterozygous for V726A and A744S mutations.