Overlap syndrome between Familial Mediterranean fever and tumor necrosis factor receptor-associated periodic syndrome in a lupus patient.

[familial mediterranean fever]

Autoinflammatory diseases represent an expanding spectrum of genetic and non-genetic inflammatory diseases characterized by recurrent episodes of fever and systemic inflammation , affecting joints , skin and serosal surfaces . Familial Mediterranean fever (FMF ) is the most common autosomal recessive hereditary autoinflammatory disease . Tumor necrosis factor receptor-associated periodic syndrome (TRAPS ) is an autosomal dominant hereditary autoinflammatory disease . They share some clinical manifestations such as a periodic fever and skin rash . We present here the association of FMF with TRAPS in a systemic lupus erythematosus (SLE ) patient . A 54 -year -old SLE patient with recurrent attacks of fever , arthritis , and skin rashes was referred to our hospital . She had been diagnosed with lupus nephritis at 19 years old . Her lupus nephritis was controlled by steroid treatments ; however , since childhood she has suffered from recurrent episodes of periodic fever , abdominal pain , arthritis , and erythematous skin rashes . An initial diagnosis of FMF was suspected based on the genetic analysis , showing the compound heterozygous L 110 P /E 148 Q mutations in the MEFV gene that is responsible for FMF . Her symptoms responded to colchicine , but the febrile attacks were not completely resolved . Therefore , genetic testing for TRAPS was performed . The results revealed a heterozygous T 61 I mutation in the TNFRSF 1 A gene that encodes tumor necrosis factor -Î± receptor and is responsible for TRAPS . The patient was diagnosed with overlapping FMF and TRAPS , in addition to SLE . This is the first report of SLE associated with both FMF and TRAPS .

Diseases
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Diseases presenting "dominant hereditary autoinflammatory disease" symptom

familial mediterranean fever

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