{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,19]],"date-time":"2026-05-19T10:08:04Z","timestamp":1779185284507,"version":"3.51.4"},"reference-count":27,"publisher":"MDPI AG","issue":"5","license":[{"start":{"date-parts":[[2026,5,19]],"date-time":"2026-05-19T00:00:00Z","timestamp":1779148800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"National High Level Hospital Clinical Research Funding","award":["2022-PUMCH-D-002"],"award-info":[{"award-number":["2022-PUMCH-D-002"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["JCDD"],"abstract":"<jats:p>Recurrent pericarditis (RP) remains challenging, especially in tuberculosis (TB)-endemic regions where empirical anti-TB therapy is often unnecessarily prolonged. We report a 35-year-old woman with three RP episodes over six months, presenting with pleuritic chest pain, elevated inflammatory markers, and moderate-to-large pericardial effusion. Extensive infectious (including TB), autoimmune, and malignancy workups were negative. Cardiac magnetic resonance revealed persistent pericardial late gadolinium enhancement despite clinical remission. Whole-exome sequencing identified a heterozygous MEFV c.442G&gt;C (p.Glu148Gln) variant, suggesting an autoinflammatory predisposition. Although the patient finally achieved sustained symptom-free status for six months on a standardized low-dose colchicine regimen, still over 10% of patients have recurrent symptoms receiving colchicine in addition to conventional anti-inflammatory therapy with aspirin or ibuprofen. This case highlights the shifting paradigm from an infection-centered to an autoinflammatory framework for RP in TB-endemic countries, underscores the role of MEFV variants in idiopathic recurrent pericarditis, and illustrates the real-world gap between genetic insights and therapeutic accessibility to IL-1 inhibitors in resource-limited settings.<\/jats:p>","DOI":"10.3390\/jcdd13050218","type":"journal-article","created":{"date-parts":[[2026,5,19]],"date-time":"2026-05-19T08:55:28Z","timestamp":1779180928000},"page":"218","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Recurrent Pericarditis in a Middle-Aged Female with MEFV Mutation"],"prefix":"10.3390","volume":"13","author":[{"given":"Xiaohang","family":"Liu","sequence":"first","affiliation":[{"name":"Department of Cardiology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100006, China"},{"name":"Department of Internal Medicine, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100006, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5743-151X","authenticated-orcid":false,"given":"Tongxin","family":"Xiao","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100006, China"},{"name":"Department of Endocrine, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100006, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lihua","family":"Zhang","sequence":"additional","affiliation":[{"name":"Department of Cardiology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100006, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2732-0659","authenticated-orcid":false,"given":"Zhongjie","family":"Fan","sequence":"additional","affiliation":[{"name":"Department of Cardiology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100006, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xinglin","family":"Yang","sequence":"additional","affiliation":[{"name":"Department of Cardiology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100006, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zhuang","family":"Tian","sequence":"additional","affiliation":[{"name":"Department of Cardiology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100006, China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2026,5,19]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"2921","DOI":"10.1093\/eurheartj\/ehv318","article-title":"2015 ESC Guidelines for the diagnosis and management of pericardial diseases: The Task Force for the Diagnosis and Management of Pericardial Diseases of the European Society of Cardiology (ESC) Endorsed by: The European Association for Cardio-Thoracic Surgery (EACTS)","volume":"36","author":"Adler","year":"2015","journal-title":"Eur. Heart J."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"498","DOI":"10.1136\/hrt.2006.104067","article-title":"Myopericarditis versus viral or idiopathic acute pericarditis","volume":"94","author":"Imazio","year":"2008","journal-title":"Heart"},{"key":"ref_3","first-page":"1047","article-title":"The Evolving Etiologic and Epidemiologic Portrait of Pericardial Disease","volume":"39","author":"Reddy","year":"2023","journal-title":"Can. J. Cardiol."},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"975","DOI":"10.1001\/jamacardio.2022.2584","article-title":"Advances in Imaging and Targeted Therapies for Recurrent Pericarditis: A Review","volume":"7","author":"Kumar","year":"2022","journal-title":"JAMA Cardiol."},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"267","DOI":"10.1016\/j.amjcard.2006.01.086","article-title":"Long-term outcomes in difficult-to-treat patients with recurrent pericarditis","volume":"98","author":"Brucato","year":"2006","journal-title":"Am. J. Cardiol."},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"2012","DOI":"10.1161\/CIRCULATIONAHA.105.542738","article-title":"Colchicine in addition to conventional therapy for acute pericarditis: Results of the COlchicine for acute PEricarditis (COPE) trial","volume":"112","author":"Imazio","year":"2005","journal-title":"Circulation"},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"409","DOI":"10.7326\/0003-4819-155-7-201110040-00359","article-title":"on behalf of the CORP (COlchicine for Recurrent Pericarditis) Investigators. Colchicine for recurrent pericarditis (CORP): A randomized trial","volume":"155","author":"Imazio","year":"2011","journal-title":"Ann. Intern. Med."},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"1906","DOI":"10.1001\/jama.2016.15826","article-title":"Effect of Anakinra on Recurrent Pericarditis Among Patients With Colchicine Resistance and Corticosteroid Dependence: The AIRTRIP Randomized Clinical Trial","volume":"316","author":"Brucato","year":"2016","journal-title":"JAMA"},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"31","DOI":"10.1056\/NEJMoa2027892","article-title":"Phase 3 Trial of Interleukin-1 Trap Rilonacept in Recurrent Pericarditis","volume":"384","author":"Klein","year":"2021","journal-title":"N. Engl. J. Med."},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"956","DOI":"10.1177\/2047487319879534","article-title":"Anakinra for corticosteroid-dependent and colchicine-resistant pericarditis: The IRAP (International Registry of Anakinra for Pericarditis) study","volume":"27","author":"Imazio","year":"2020","journal-title":"Eur. J. Prev. Cardiol."},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"525","DOI":"10.1093\/clinchem\/hvaa024","article-title":"ISSAID\/EMQN Best Practice Guidelines for the Genetic Diagnosis of Monogenic Autoinflammatory Diseases in the Next-Generation Sequencing Era","volume":"66","author":"Shinar","year":"2020","journal-title":"Clin. Chem."},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"455","DOI":"10.1136\/annrheumdis-2012-202580","article-title":"MEFV mutations affecting pyrin amino acid 577 cause autosomal dominant autoinflammatory disease","volume":"73","author":"Stoffels","year":"2014","journal-title":"Ann. Rheum. Dis."},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"1193","DOI":"10.1016\/j.jacc.2024.05.072","article-title":"Predicting Long-Term Clinical Outcomes of Patients With Recurrent Pericarditis","volume":"84","author":"Yesilyaprak","year":"2024","journal-title":"J. Am. Coll. Cardiol."},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"1337","DOI":"10.1016\/j.jcmg.2016.10.020","article-title":"Quantitative Pericardial Delayed Hyperenhancement Informs Clinical Course in Recurrent Pericarditis","volume":"10","author":"Kumar","year":"2017","journal-title":"JACC Cardiovasc. Imaging"},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"e003125","DOI":"10.1161\/CIRCIMAGING.114.003125","article-title":"Quantitative assessment of pericardial delayed hyperenhancement predicts clinical improvement in patients with constrictive pericarditis treated with anti-inflammatory therapy","volume":"8","author":"Cremer","year":"2015","journal-title":"Circ. Cardiovasc. Imaging"},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"e024931","DOI":"10.1161\/JAHA.121.024931","article-title":"Pericarditis and Autoinflammation: A Clinical and Genetic Analysis of Patients With Idiopathic Recurrent Pericarditis and Monogenic Autoinflammatory Diseases at a National Referral Center","volume":"11","author":"Peet","year":"2022","journal-title":"J. Am. Heart Assoc."},{"key":"ref_17","doi-asserted-by":"crossref","first-page":"194","DOI":"10.1002\/humu.20080","article-title":"Infevers: An evolving mutation database for auto-inflammatory syndromes","volume":"24","author":"Touitou","year":"2004","journal-title":"Hum. Mutat."},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"332ra45","DOI":"10.1126\/scitranslmed.aaf1471","article-title":"Familial autoinflammation with neutrophilic dermatosis reveals a regulatory mechanism of pyrin activation","volume":"8","author":"Masters","year":"2016","journal-title":"Sci. Transl. Med."},{"key":"ref_19","first-page":"2140","article-title":"Familial Mediterranean fever in Chinese adult patients","volume":"57","author":"Wu","year":"2018","journal-title":"Rheumatology"},{"key":"ref_20","doi-asserted-by":"crossref","first-page":"527","DOI":"10.1093\/qjmed\/94.10.527","article-title":"Prevalence and significance of the familial Mediterranean fever gene mutation encoding pyrin Q148","volume":"94","author":"Booth","year":"2001","journal-title":"QJM"},{"key":"ref_21","first-page":"1103","article-title":"New Developments in the Management of Recurrent Pericarditis","volume":"39","author":"Imazio","year":"2023","journal-title":"Can. J. Cardiol."},{"key":"ref_22","doi-asserted-by":"crossref","first-page":"1522","DOI":"10.1056\/NEJMoa1208536","article-title":"A randomized trial of colchicine for acute pericarditis","volume":"369","author":"Imazio","year":"2013","journal-title":"N. Engl. J. Med."},{"key":"ref_23","doi-asserted-by":"crossref","first-page":"54","DOI":"10.1186\/s13023-017-0609-1","article-title":"A survey of resistance to colchicine treatment for French patients with familial Mediterranean fever","volume":"12","author":"Corsia","year":"2017","journal-title":"Orphanet J. Rare Dis."},{"key":"ref_24","doi-asserted-by":"crossref","first-page":"182","DOI":"10.3899\/jrheum.090273","article-title":"Unresponsiveness to colchicine therapy in patients with familial Mediterranean fever homozygous for the M694V mutation","volume":"37","author":"Soylemezoglu","year":"2010","journal-title":"J. Rheumatol."},{"key":"ref_25","doi-asserted-by":"crossref","first-page":"103421","DOI":"10.1016\/j.jaut.2025.103421","article-title":"Long-term efficacy and safety of colchicine and anti-IL-1 blockers in FMF: Results from the Eurofever multicenter observational study","volume":"153","author":"Bustaffa","year":"2025","journal-title":"J. Autoimmun."},{"key":"ref_26","doi-asserted-by":"crossref","first-page":"232","DOI":"10.3960\/jslrt.24006","article-title":"Rare severe constrictive pericarditis complication in Erdheim-Chester disease: A case report and literature review","volume":"64","author":"Miyazaki","year":"2024","journal-title":"J. Clin. Exp. Hematop."},{"key":"ref_27","doi-asserted-by":"crossref","unstructured":"Bartoli, L., Angeli, F., Stefanizzi, A., Fabrizio, M., Paolisso, P., Bergamaschi, L., Broccoli, A., Zinzani, P.L., Gali\u00e8, N., and Rucci, P. (2022). Genetics and clinical phenotype of Erdheim-Chester disease: A case report of constrictive pericarditis and a systematic review of the literature. Front. Cardiovasc. Med., 9.","DOI":"10.3389\/fcvm.2022.876294"}],"container-title":["Journal of Cardiovascular Development and Disease"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2308-3425\/13\/5\/218\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,5,19]],"date-time":"2026-05-19T09:33:11Z","timestamp":1779183191000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2308-3425\/13\/5\/218"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,5,19]]},"references-count":27,"journal-issue":{"issue":"5","published-online":{"date-parts":[[2026,5]]}},"alternative-id":["jcdd13050218"],"URL":"https:\/\/doi.org\/10.3390\/jcdd13050218","relation":{},"ISSN":["2308-3425"],"issn-type":[{"value":"2308-3425","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,5,19]]}}}