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
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


  • 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


  • Pancreatic neuroendocrine tumors1
  • Multiple pancreatic cysts1


  • Retinal hemangioblastoma1


  • 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.