Suspect and test for
VHL Disease

Manifestations of VHL disease can appear in individuals as young
as 1 year old. VHL progresses over the patient’s lifetime, making
early
diagnosis and appropriate disease management critically
important for individuals affected by the disease.1,2

Could patients in your
care have VHL disease?

While there are no formal guidelines on diagnostic criteria specific to VHL disease, it is suggested that VHL disease be suspected if any of the following manifestations are present3 :

Brain and Spinal Cord

  • CNS hemangioblastoma in the cerebellum, brainstem, spinal cord, cauda equina, or supratentorial region.1

Kidneys

  • Renal cell carcinoma, or RCC, if the individual:
    • Was diagnosed at age ≤46 years3
    • Has bilateral or multifocal tumors4,5
    • Has 1 or more first- or second-degree relatives with RCC with clear cell histology4,5
  • Multiple bilateral renal cysts1

Pancreas

  • Pancreatic neuroendocrine tumors1
  • Multiple pancreatic cysts1

Eye

  • Retinal hemangioblastoma1

Ear

  • Endolymphatic sac tumors1

Reproductive Organs

  • Papillary cystadenomas of the epididymis or broad ligament1

Adrenal Glands

  • Adrenal or extra-adrenal pheochromocytoma1

Family history

  • Any patient with a family history of VHL disease2

These are common manifestations of VHL disease, and this is not an exhaustive list. Patients with VHL disease may present with additional manifestations. Manifestation will vary from patient to patient.

Help confirm your suspicion of VHL disease with a germline genetic test.6

The CDC has published new FY 2023 ICD-10-CM codes and created a specific code for VHL
disease7 : Q85.83 Von Hippel-Lindau syndrome.

There are no formal guidelines on genetic testing specific to VHL disease.

Join Dr. Wendy Chung for an overview of important diagnostic considerations in VHL disease.

VHL = Von Hippel-Lindau; CDC = Centers for Disease Control and Prevention; FY = fiscal year; ICD = International Classification of Diseases.

Explore the cycle of VHL surveillance

References: 1. Varshney N, Kebede AA, Owusu-Dapaah H, et al. A review of von Hippel-Lindau syndrome. J Kidney Cancer VHL. 2017;4(3):20–29. 2. Ganeshan D, Menias CO, Pickhardt PJ, et al. Tumors in von Hippel–Lindau syndrome: from head to toe—comprehensive state-of-the-art review. RadioGraphics. 2018;38(3):849–866. 3. van Leeuwaarde RS, Ahmad S, Links TP, et al. Von Hippel-Lindau Syndrome. In: Adam MP, Ardinger HH, Pagon RA, et al., eds. GeneReviews®. Seattle (WA): University of Washington, Seattle; May 17, 2000. 4. Hampel H, Bennett RL, Buchanan A, et al. A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic Counselors: referral indications for cancer predisposition assessment. Genet Med. 2015;17(1):70–87. 5. NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®) for Kidney Cancer V.1.2023. © National Comprehensive Cancer Network, Inc. 2022. All rights reserved. Accessed June 21, 2022. To view the most recent and complete version of the guidelines, go to NCCN.org. 6. National Organization for Rare Disorders. Von Hippel-Lindau disease.  https://rarediseases.org/rare-diseases/von-hippel-lindau-disease/. Accessed September 7, 2022. 7. Centers for Medicare and Medicaid Services. ICD-10-CM index to diseases and injuries. https://www.cms.gov/files/
document/
2020-icd-10-cm-index-diseases-and-injuries-pdf.pdf. Accessed September 26, 2022.

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