A Rare Cause of Recurrent Pericarditis

Area of Science:

• Cardiology
• Genetics
• Rheumatology

Background:

• Recurrent pericarditis presents diagnostic and therapeutic challenges, particularly in cases refractory to conventional treatments like NSAIDs and colchicine.
• Accurate diagnosis is vital for effective symptom management and preventing further episodes of pericarditis.

Observation:

• A 52-year-old male with a history of multiple pericarditis episodes presented with another recurrence, unresponsive to high-dose ibuprofen and colchicine.
• Initial treatment with intravenous prednisolone provided temporary relief, but recurrences persisted during steroid tapering.
• Extensive investigations, including immunological tests and imaging, failed to identify an underlying cause.

Findings:

• Genetic analysis revealed a heterozygous mutation in the familial Mediterranean fever gene (MEFV).
• The patient was diagnosed with familial Mediterranean fever (FMF), an auto-inflammatory condition.
• Treatment with anakinra, alongside colchicine and corticosteroid tapering, resulted in significant improvement and no recurrence over two years.

Implications:

• This case underscores the importance of considering auto-inflammatory disorders, such as FMF, in patients with recurrent pericarditis unresponsive to standard therapies.
• Genetic testing for MEFV mutations can aid in diagnosing FMF.
• Targeted therapies like anakinra offer a promising treatment option for FMF-related recurrent pericarditis, potentially reducing reliance on corticosteroids.