目的内淋巴囊瘤(ELSTs)是vonHippel-Lindau病(VHL)患者听力损失和其他听觉前庭功能障碍的常见原因。尚未建立针对VHL患者的统一筛查建议。为了制定共识准则,VHL联盟成立了一个专家委员会,以确定基于证据的临床筛查建议.患者和方法建议是通过使用建议分级来制定的,评估,发展,和综合文献综述后的评价框架。结果VHL中ELSTs的诊断需要结合临床评估以及影像学和听力测量结果。前庭听觉体征/症状通常是小ELSTs的早期特征,包括那些在成像上不可见的。诊断性听力图对检测ELST相关的感音神经性听力损失具有最大的敏感性,并且可以帮助确认临床相关病变。包括那些可能不明显的射线照相。磁共振成像(MRI)可以是VHL中ELST的更具体的测试,特别是当补充计算机断层扫描成像以识别小肿瘤时。年龄在10至60岁之间的VHL患者对ELST表现具有很高的优势。结论我们建议临床评估(每年)和诊断听力图(每隔一年)是VHL中ELSTs的主要筛查工具。我们建议在11至65岁之间进行筛查,或者在出现听觉前庭体征/症状时与VHL中的其他测试方案同步。我们建议可以在15至20岁之间或在阳性筛查后进行基线成像(内部听管的MRI)。
Objective Endolymphatic sac tumors (ELSTs) are a frequent cause of hearing loss and other audiovestibular dysfunction in patients with von Hippel-Lindau disease (VHL). Unified screening recommendations for VHL patients have not been established. To develop
consensus guidelines, the VHL Alliance formed an expert committee to define evidence-based clinical screening recommendations. Patients and Methods Recommendations were formulated by using the Grading of Recommendations, Assessment, Development, and Evaluation framework after a comprehensive literature review. Results Diagnosis of ELSTs in VHL requires a combination of clinical evaluation and imaging and audiometric findings. Audiovestibular signs/symptoms are often an early feature of small ELSTs, including those that are not visible on imaging. Diagnostic audiograms have the greatest sensitivity for the detection of ELST-associated sensorineural hearing loss and can help confirm clinically relevant lesions, including those that may not be radiographically evident. Magnetic resonance imaging (MRI) can be a more specific test for ELSTs in VHL particularly when supplemented with computed tomography imaging for the identification of small tumors. VHL patients between the ages 10 and 60 years carry high preponderance for ELST presentation. Conclusion We recommend that clinical evaluation (yearly) and diagnostic audiograms (every other year) be the primary screening tools for ELSTs in VHL. We suggest that screening be performed between the ages 11 and 65 years or with the onset of audiovestibular signs/symptoms for synchronicity with other testing regimens in VHL. We recommend that baseline imaging (MRI of the internal auditory canals) can be performed between the ages of 15 and 20 years or after positive screening.