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一名28岁男性的家族性地中海热表现为无痛性大量胸腔积液。

Familial Mediterranean Fever in a 28-Year-Old Male Presented as a Painless Massive Pleural Effusion.

作者信息

Dimeas George, Dimeas Ilias E, Papacharalampous Konstantina, Chalvatzoulis Eleftherios, Daniil Zoe

机构信息

Department of Respiratory Medicine, University Hospital of Larissa, Larissa, GRC.

Pathology Department, IASO Thessalias General Hospital, Larissa, GRC.

出版信息

Cureus. 2023 Jul 12;15(7):e41776. doi: 10.7759/cureus.41776. eCollection 2023 Jul.

Abstract

This case describes the first patient with familial Mediterranean fever (FMF) with massive left pleural effusion as the first clinical manifestation, to whom a video-assisted thoracoscopic surgery was performed to support the diagnosis. The patient was a 28-year-old male, who presented with dry cough and dyspnea but no fever. The lab findings showed hypoxemia (partial pressure of oxygen= 65 mm Hg) accompanied by elevated inflammatory markers, including C-reactive protein at 7 mg/dl (<0.5 mg/dl), erythrocyte sedimentation rate of 46 mm/h (<20 mm/h), and serum amyloid at 56.7 mg/L (<10 mg/L). X-ray indicated the left pleural effusion was part of a bilateral recurrent painless pleuritis, as the right pleural thickening implied. Numerous biopsies were taken during the thoracoscopy, and the histopathology examination reported non-specific fibrous pleurisy. Colchicine administration, at first empirically for upcoming pericarditis, at the end was a significant clue for the diagnosis. Positive molecular testing for mutations in the familial Mediterranean fever (MEFV) gene contributed to the diagnosis of FMF, which was based on the Tel-Hashomer clinical criteria. The purpose of this article is hopefully to raise further awareness about patients with FMF presented with unusual manifestations of the disease.

摘要

本病例描述了首例以大量左侧胸腔积液为首发临床表现的家族性地中海热(FMF)患者,为明确诊断对其进行了电视辅助胸腔镜手术。患者为一名28岁男性,表现为干咳和呼吸困难,但无发热。实验室检查结果显示低氧血症(氧分压 = 65 mmHg),同时伴有炎症标志物升高,包括C反应蛋白为7 mg/dl(<0.5 mg/dl)、红细胞沉降率为46 mm/h(<20 mm/h)以及血清淀粉样蛋白为56.7 mg/L(<10 mg/L)。X线显示左侧胸腔积液是双侧复发性无痛性胸膜炎的一部分,右侧胸膜增厚提示了这一点。胸腔镜检查期间进行了多次活检,组织病理学检查报告为非特异性纤维性胸膜炎。起初经验性给予秋水仙碱以预防即将发生的心包炎,最终秋水仙碱成为诊断的重要线索。基于Tel-Hashomer临床标准,家族性地中海热(MEFV)基因突变的分子检测呈阳性有助于FMF的诊断。本文旨在提高对表现为该病不寻常临床表现的FMF患者的进一步认识。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ab13/10416807/adc6316d2d08/cureus-0015-00000041776-i01.jpg

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