Diagnosing VHL Disease

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Diagnosing Von Hippel-Lindau (VHL) Disease

While 80% of patients with Von Hippel-Lindau (VHL) Disease have a family history, up to 20% of patients have a new/de novo alteration. However, with limited family history and unclear paternity, we often have individuals with unclear VHL family history. With both of these groups we rely on experienced clinicians and patients to have suspicion for this disease.

Manifestations of VHL disease can appear in individuals as young as 1 year of age and through the course of one’s lifetime. Making an early diagnosis can limit the severity of the disease.  Genetic testing of at-risk relatives may also impact family members.

Most experts suggest genetic confirmation with genetic counseling and sequencing for the VHL gene. While there are no uniform guidelines for referrals for genetic testing, several disease manifestations should prompt a discussion strongly advocating for genetic testing. While not a simple blood test, a counselor or genetics expert can discuss the implication for pursuing testing.

At UCLA patients are often referred for genetic counseling and possible testing based on the guidelines (adapted from the VHL Family Alliance) below:

  • Any blood relative of an individual diagnosed with VHL disease
  • Any individual with:
    • CNS Hemangioblastoma (HB)
    • Pheochromocytoma (PHE) or paraganglioma
    • Endolymphatic sac tumor (ELST)
    • Epididymal or adnexal papillary cystadenoma
    • Pancreatic serous cystadenomas or neuroendocrine tumors
  • Any individual with ONE or more of the following:
    • Pancreatic serous cystadenomas or neuroendocrine tumors
  • Any individual with clear cell renal carcinoma (RCC) with
    • Early age of diagnosis (< 46-years of age) with personal/family history
    • bilateral and/or multiple clear cell RCC
    • ≥ 1 pancreatic serous cystadenoma or neuroendocrine tumor
    • Multiple pancreatic cysts + any VHL associated lesions

A clinical diagnosis can be given to individuals who meet specific clinical criteria who may not be able to get genetic testing. There are VHL clinical diagnostic criteria suggested by several groups from the Netherlands, Denmark, and an international group. These groups have agreed that 

  • With family history of VHL, one of more VHL-associated tumors may be sufficient
  • Without a family history, a combination of various types of VHL-associated tumors are necessary for confirming a clinical diagnosis.

At UCLA Health we have a team of on-site genetic counselors who are available for genetic testing. Additionally for family members who are out of town, we have collaborations with various telehealth companies that can assist with remote counseling and testing for VHL Disease.