Erdheim-Chester Disease: a Rare but Important Cause of Recurrent Pericarditis


Purpose of Review

Erdheim-Chester disease (ECD) is a very rare neoplasm of the non-Langerhans cell histiocytes. Pericardial involvement is uncommon, and we aim to review the current knowledge on the epidemiology, clinical manifestations, and management of recurrent pericarditis due to ECD. We also aim to raise awareness of the importance of considering ECD as a differential diagnosis for recurrent pericarditis in the appropriate clinical settings.

Recent Findings

The prevalence of pericardial involvement in ECD is estimated to be 40% and is getting more recognized recently. Up to 68% of patients carry the BRAFV600E mutation, and targeted treatment with vemurafenib, an inhibitor of BRAF kinase, showed an excellent response in those who carry this mutation.


Pericardial disease appears to be the most common cardiac presentation (in 80% of cases). Although pericardial involvement is frequently asymptomatic, patients with ECD can present with typical pericarditis chest pain and signs of right heart failure if constriction is present. The diagnosis of ECD requires a biopsy of the pericardium or another affected organ. If BRAFV600E mutation is absent, limited data exist, and many medications have been tried, like interferon alfa, anakinra, and infliximab.

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Correspondence to Allan L. Klein.

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Johnny Chahine, Jafar Alzubi, Hanan Alnajjar, Jay Ramchand, and Michael Chetrit declare that they have no conflict of interest.

Allan L. Klein reports a research grant from Kiniksa and being on the advisory board for Kiniksa, and being on the advisory board for Pfizer.

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Chahine, J., Alzubi, J., Alnajjar, H. et al. Erdheim-Chester Disease: a Rare but Important Cause of Recurrent Pericarditis. Curr Cardiol Rep 22, 75 (2020).

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  • Erdheim-Chester disease
  • Recurrent pericarditis
  • Constriction