Table 4. [Von Hippel-Lindau Syndrome: Recommended Evaluations Following Initial Diagnosis]. - GeneReviews®

System/Concern	Evaluation	Comment
Neurologic	Neurologic history & physical exam Brain & total spine MRI	To assess for evidence of CNS or peripheral nerve hemangioblastomas
Eyes	Ophthalmologic eval	To assess for retinal hemangioblastomas
Renal/pancreatic cysts & tumors	Abdominal ultrasound in those age ≥16 yrs	Evaluate suspicious lesions in kidney, adrenal gland, or pancreas by more sophisticated techniques (e.g., CT, MRI).
Endocrine	Blood pressure measurement Measurement of 24-hr urine fractionated metanephrines & catecholamine metabolites or plasma free fractionated metanephrines	In those age ≥5 yrs to evaluate for pheochromocytoma
ENT	Audiologic eval	To assess for hearing loss assoc w/endolymphatic sac tumors
MRI of internal auditory canals	At age 15-20 yrs to assess for ELST or earlier in those w/hearing loss, tinnitus, or vertigo
Psychological	Assess psychosocial needs.	Refer to social worker or psychologist as needed
Genetic counseling	By genetics professionals ¹	To inform affected persons & their families re nature, MOI, & implications of VHL to facilitate medical & personal decision making

System/Concern

Evaluation

Comment

Neurologic

Neurologic history & physical exam
Brain & total spine MRI

To assess for evidence of CNS or peripheral nerve hemangioblastomas

Eyes

Ophthalmologic eval

To assess for retinal hemangioblastomas

Renal/pancreatic cysts & tumors

Abdominal ultrasound in those age ≥16 yrs

Evaluate suspicious lesions in kidney, adrenal gland, or pancreas by more sophisticated techniques (e.g., CT, MRI).

Endocrine

Blood pressure measurement
Measurement of 24-hr urine fractionated metanephrines & catecholamine metabolites or plasma free fractionated metanephrines

In those age ≥5 yrs to evaluate for pheochromocytoma

ENT

Audiologic eval

To assess for hearing loss assoc w/endolymphatic sac tumors

MRI of internal auditory canals

At age 15-20 yrs to assess for ELST or earlier in those w/hearing loss, tinnitus, or vertigo

Psychological

Assess psychosocial needs.

Refer to social worker or psychologist as needed

Genetic counseling

By genetics professionals ¹

To inform affected persons & their families re nature, MOI, & implications of VHL to facilitate medical & personal decision making

From: Von Hippel-Lindau Syndrome

GeneReviews^® [Internet].

Adam MP, Feldman J, Mirzaa GM, et al., editors.

Seattle (WA): University of Washington, Seattle; 1993-2025.

GeneReviews® chapters are owned by the University of Washington. Permission is hereby granted to reproduce, distribute, and translate copies of content materials for noncommercial research purposes only, provided that (i) credit for source (http://www.genereviews.org/) and copyright (© 1993-2025 University of Washington) are included with each copy; (ii) a link to the original material is provided whenever the material is published elsewhere on the Web; and (iii) reproducers, distributors, and/or translators comply with the GeneReviews® Copyright Notice and Usage Disclaimer. No further modifications are allowed. For clarity, excerpts of GeneReviews chapters for use in lab reports and clinic notes are a permitted use.

For more information, see the GeneReviews® Copyright Notice and Usage Disclaimer.

For questions regarding permissions or whether a specified use is allowed, contact: ude.wu@tssamda.

NCBI Bookshelf. A service of the National Library of Medicine, National Institutes of Health.