Key result
MEFV gene mutation identified as rare cause of recurrent pericarditis.
Why the study?
Pericarditis as the first and only manifestation of familial Mediterranean fever is very rare and requires recognition for accurate diagnosis.
Case Report (n=1)
Recurrent isolated pericarditis may signal undiagnosed FMF; leaves open whether IL-1 blockade prevents recurrences.
Familial Mediterranean fever (FMF) is an autoinflammatory disease caused by a pyrin dysfunction, leading to uncontrolled interleukin-1 production that triggers the attacks. Here we report a case of a 36-year-old female patient repeatedly admitted to the cardiology ward with recurrent episodes of pericarditis, with intervals of 1 and 2 months between the episodes. During the attacks, chest pain and fever were the only symptoms. Following the administration of steroids and non-steroidal anti-inflammatory drugs, the patient became afebrile. She also had lymphoma and thyroid carcinoma in anamnesis essential for differential diagnosis. Laboratory tests for infection and autoimmune disease were all negative, and the positron emission tomography–CT scan did not reveal lymphoma relapse. Genetic testing revealed a mutation in the MEFV gene. It is very rare for pericarditis to be the first and only manifestation of FMF.
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Lucāne et al. (2021) conducted a case report in Recurrent pericarditis (n=1). MEFV gene mutation was evaluated. A mutation in the MEFV gene causing Familial Mediterranean fever was identified as the rare underlying cause of recurrent pericarditis in a 36-year-old female patient.
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