{"title":"以无菌性脓肿为特征的 FMF","authors":"Seyda Bilgin, S. Uğurlu","doi":"10.4274/raed.galenos.2023.76376","DOIUrl":null,"url":null,"abstract":"A 23-year-old otherwise healthy female with family history of familial Mediterranean fever (FMF) in 2 siblings who are on colchicine presented with fever, pleuritis, pericarditis, peritonitis and multiple abscesses in the liver. Sampling from the liver abscess showed neutrophil predominance with no findings of granuloma, vasculitis, lymphoma or malignancy. Similarly, samples from peritoneum and pleural fluids are exudative and showed foamy histiocytes, polymorphonuclear leukocytes. No pathogens, including bacterial, viral and fungal agents, were grown in cultures. The inflamatuary markers were very high, and despite multiple antibiotherapy, the clinical status and biochemistry picture did not improve. After excluding malignancy and infection, the picture was evaluated as an autoinflammatory disease and steroid treatment was started as anti-inflammatory therapy. Anti-interleukin 1 was added to the treatment of the patient who showed a dramatic radiological and clinical response to the steroid, and the steroid dose was reduced. Genomic DNA sample isolated from peripheral blood test showed homozygous MEFV m694v gene mutation diagnosing","PeriodicalId":102766,"journal":{"name":"Ulusal Romatoloji Dergisi","volume":"24 1","pages":""},"PeriodicalIF":0.0000,"publicationDate":"2023-11-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"FMF presented by aseptic abscesses\",\"authors\":\"Seyda Bilgin, S. Uğurlu\",\"doi\":\"10.4274/raed.galenos.2023.76376\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"A 23-year-old otherwise healthy female with family history of familial Mediterranean fever (FMF) in 2 siblings who are on colchicine presented with fever, pleuritis, pericarditis, peritonitis and multiple abscesses in the liver. Sampling from the liver abscess showed neutrophil predominance with no findings of granuloma, vasculitis, lymphoma or malignancy. Similarly, samples from peritoneum and pleural fluids are exudative and showed foamy histiocytes, polymorphonuclear leukocytes. No pathogens, including bacterial, viral and fungal agents, were grown in cultures. The inflamatuary markers were very high, and despite multiple antibiotherapy, the clinical status and biochemistry picture did not improve. After excluding malignancy and infection, the picture was evaluated as an autoinflammatory disease and steroid treatment was started as anti-inflammatory therapy. Anti-interleukin 1 was added to the treatment of the patient who showed a dramatic radiological and clinical response to the steroid, and the steroid dose was reduced. Genomic DNA sample isolated from peripheral blood test showed homozygous MEFV m694v gene mutation diagnosing\",\"PeriodicalId\":102766,\"journal\":{\"name\":\"Ulusal Romatoloji Dergisi\",\"volume\":\"24 1\",\"pages\":\"\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2023-11-27\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Ulusal Romatoloji Dergisi\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.4274/raed.galenos.2023.76376\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Ulusal Romatoloji Dergisi","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.4274/raed.galenos.2023.76376","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
引用次数: 0
摘要
一名 23 岁、身体健康的女性,其两个兄弟姐妹均有家族性地中海热(FMF)病史,并服用秋水仙碱,患者出现发热、胸膜炎、心包炎、腹膜炎和肝脏多发性脓肿。肝脓肿取样显示中性粒细胞占多数,未发现肉芽肿、血管炎、淋巴瘤或恶性肿瘤。同样,腹膜和胸腔积液样本呈渗出性,显示有泡沫组织细胞和多形核白细胞。细菌、病毒和真菌等病原体均未在培养物中生长。炎症指标非常高,尽管接受了多种抗生素治疗,但临床状况和生化指标没有改善。在排除了恶性肿瘤和感染的可能性后,患者被评估为自身炎症性疾病,并开始接受类固醇抗炎治疗。患者对类固醇的放射学和临床反应显著,在治疗过程中加入了抗白细胞介素 1,并减少了类固醇的剂量。从外周血检测中分离出的基因组 DNA 样本显示出同源的 MEFV m694v 基因突变,诊断结果如下
A 23-year-old otherwise healthy female with family history of familial Mediterranean fever (FMF) in 2 siblings who are on colchicine presented with fever, pleuritis, pericarditis, peritonitis and multiple abscesses in the liver. Sampling from the liver abscess showed neutrophil predominance with no findings of granuloma, vasculitis, lymphoma or malignancy. Similarly, samples from peritoneum and pleural fluids are exudative and showed foamy histiocytes, polymorphonuclear leukocytes. No pathogens, including bacterial, viral and fungal agents, were grown in cultures. The inflamatuary markers were very high, and despite multiple antibiotherapy, the clinical status and biochemistry picture did not improve. After excluding malignancy and infection, the picture was evaluated as an autoinflammatory disease and steroid treatment was started as anti-inflammatory therapy. Anti-interleukin 1 was added to the treatment of the patient who showed a dramatic radiological and clinical response to the steroid, and the steroid dose was reduced. Genomic DNA sample isolated from peripheral blood test showed homozygous MEFV m694v gene mutation diagnosing