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J Neurol Surg B Skull Base 2022; 83(S 02): e225-e231
DOI: 10.1055/s-0041-1725033
Original Article

Endolymphatic Sac Tumor Screening and Diagnosis in von Hippel-Lindau Disease: A Consensus Statement

Gautam U. Mehta 
1   Division of Neurosurgery, House Institute, Los Angeles, California, United States
,
H. Jeffery Kim
2   Neuro-Otology Branch, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, Maryland, United States
3   Department of Otolaryngology-Head and Neck Surgery, Georgetown University Medical Center, Washington, District of Columbia, United States
,
Paul W. Gidley 
4   Department of Head and Neck Surgery, The University of Texas M.D. Anderson Cancer Center, Houston, Texas, United States
,
Anthony B. Daniels
5   Division of Ocular Oncology and Pathology, Department of Ophthalmology and Visual Sciences, Vanderbilt University Medical Center, Nashville, Tennessee, United States
,
Mia E. Miller
6   Division of Neurotology, House Institute, Los Angeles, California, United States
,
Gregory P. Lekovic
1   Division of Neurosurgery, House Institute, Los Angeles, California, United States
,
John A. Butman
7   Neuroradiology Section, Radiology and Imaging Sciences Department, The Clinical Center, National Institutes of Health, Bethesda, Maryland, United States
,
Russell R. Lonser
8   Department of Neurological Surgery, The Ohio State University Wexner Medical Center, Ohio State University, Columbus, Ohio, United States
› Author Affiliations Funding This work was supported in part by the National Eye Institute grant NIH/NEI 5K08EY027464–02 [ABD].
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Abstract

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.

Keywords

audiogram - audiovestibular - endolymphatic sac tumor - hearing loss - magnetic resonance imaging - screening - von Hippel-Lindau disease


Publication History

Received: 23 September 2020

Accepted: 01 January 2021

Article published online:
08 April 2021

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