Andreis Alessandro, Dossi Federica Currò, De Ferrari Gaetano Maria, Alunni Gianluca, Imazio Massimo
Advanced Cardiovascular Echocardiography Unit, Cardiovascular and Thoracic Department, Città della Salute e della Scienza di Torino University Hospital, 10126 Turin, Italy.
Division of Cardiology, Città della Salute e della Scienza di Torino University Hospital, 10126 Turin, Italy.
J Clin Med. 2024 Oct 11;13(20):6051. doi: 10.3390/jcm13206051.
: the role of the R202Q (c.605G>A, p.Arg202Gln) missense variant of the MEFV gene has been debated as either a benign polymorphism or a potentially pathogenic mutation. We report and discuss here the case of a young female with corticosteroid-dependent recurrent pericarditis carrying the homozygous R202Q variant, exhibiting distinctive clinical features possibly influenced by this genetic variant. : a 30-year-old woman with a previous diagnosis of cancer and recent respiratory infection presented with severe pleuritic chest pain, hypotension, tachycardia, and fever. Initial diagnostic evaluation indicated cardiac tamponade, and emergent pericardiocentesis was performed. Despite initial treatment with NSAIDs, colchicine, and corticosteroids, the patient experienced multiple recurrences. Genetic testing identified homozygous R202Q variant in the MEFV gene. Given the corticosteroid dependency and recurrent nature of her condition, IL-1 inhibitor anakinra was introduced, leading to significant improvement, although tapering below 150 mg per week failed to prevent recurrences. : the introduction of anakinra resulted in rapid symptom relief and resolution of pericardial effusion. However, attempts to taper or discontinue anakinra led to pericarditis recurrences. Ultimately, a maintenance dose of 50 mg every three days was established, which maintained remission for 18 months without recurrence. Despite multiple tapering attempts, further reduction in anakinra dosage was unsuccessful without triggering relapses. : the R202Q variant, although typically considered benign, may contribute to an autoinflammatory phenotype resembling familial Mediterranean fever. This case underscores the potential pathogenicity of the homozygous R202Q variant in recurrent pericarditis and its responsiveness to IL-1 inhibition. In patients with corticosteroid-dependent recurrent pericarditis, genetic testing for the R202Q variant should be considered when anti-IL-1 drugs cannot be withdrawn. Further studies are warranted to elucidate the variant's role in pericardial inflammation and guide personalized treatment strategies.
MEFV基因的R202Q（c.605G>A，p.Arg202Gln）错义变体的作用一直存在争议，有人认为它是良性多态性，也有人认为它是潜在的致病突变。我们在此报告并讨论一例携带纯合R202Q变体的依赖皮质类固醇的复发性心包炎年轻女性病例，该病例表现出可能受此基因变体影响的独特临床特征。：一名30岁女性，既往有癌症诊断且近期有呼吸道感染，出现严重的胸膜炎性胸痛、低血压、心动过速和发热。初步诊断评估提示心脏压塞，遂紧急进行心包穿刺术。尽管最初使用非甾体抗炎药、秋水仙碱和皮质类固醇进行治疗，但患者仍多次复发。基因检测在MEFV基因中发现纯合R202Q变体。鉴于其病情的皮质类固醇依赖性和复发性，引入了IL-1抑制剂阿那白滞素，病情有显著改善，尽管每周减至150mg以下未能预防复发。：阿那白滞素的引入导致症状迅速缓解和心包积液消退。然而，尝试减少或停用阿那白滞素导致心包炎复发。最终，确定了每三天50mg的维持剂量，该剂量维持缓解18个月无复发。尽管多次尝试减量，但在不引发复发的情况下，进一步降低阿那白滞素剂量未成功。：R202Q变体虽然通常被认为是良性的，但可能导致类似于家族性地中海热的自身炎症表型。该病例强调了纯合R202Q变体在复发性心包炎中的潜在致病性及其对IL-1抑制的反应性。在依赖皮质类固醇的复发性心包炎患者中，当无法停用抗IL-1药物时，应考虑对R202Q变体进行基因检测。有必要进一步研究以阐明该变体在心包炎症中的作用并指导个性化治疗策略。
