Von Hippel-Lindau (VHL) syndrome is a rare disorder caused by a mutation in a single gene called the VHL gene. If you have VHL syndrome, you are at greater risk of developing certain tumors.

VHL Syndrome: What You Need to Know

• VHL syndrome affects one in 36,000 people.
• Because VHL syndrome is genetic, there is a chance that your relatives may have the mutation as well.
• Eighty percent of cases are inherited from a parent who has VHL syndrome.
• Advances in tumor detection have greatly improved VHL syndrome care. Your health care team will monitor you and your family to maintain optimal health.

VHL Syndrome and the VHL Gene

Everyone has the VHL gene. Normally, it regulates cell growth and division, but when the gene is impaired, cells go unchecked and can more easily mutate. This causes VHL syndrome. This is why those with a faulty VHL gene are more likely to develop tumors.

VHL Syndrome Symptoms

VHL syndrome itself often has no symptoms, but certain tumors related to VHL syndrome may have noticeable signs.

VHL Syndrome-Related Tumors

• Hemangioblastomas: These are the most common VHL syndrome-associated tumors. While benign (noncancerous), hemangioblastomas can be dangerous if they press against other parts of the body or rupture. They typically occur in the spine, brain or eye. Symptoms depend on where the tumor forms but include:
• Balance problems
• Impaired vision
• Muscle weakness
• Headache
• Backache
• Neck pain
• Renal cell carcinomas: Renal cell carcinoma is a malignant (cancerous) tumor of the kidney. Symptoms of kidney cancer include:
  • Blood in the urine
  • A lump or growth on the side or lower back
  • Fever
  • Weight loss
  • Back pain
  • Decreased appetite
  • Fatigue
• Kidney cysts: Kidney cysts are benign growths of the kidney. Kidney cysts rarely produce symptoms, but when they do, the following are most common:
• Blood in the urine
• Abdominal pain
• High blood pressure
• Pheochromocytomas: Pheochromocytoma is a malignant tumor of the adrenal gland. Symptoms include:
• High blood pressure
• Rapid pulse
• Heart palpitations
• Headache
• Nausea
• Clammy skin
• Tremor
• Anxiety
• Endolymphatic sac tumors: Endolymphatic sac tumors are malignant tumors of the inner ear. If left untreated, they can lead to permanent hearing loss. Symptoms include:
• Hearing loss
• Tinnitus (ringing in the ears)
• Vertigo (dizziness)
• Facial paralysis
• Pancreatic neuroendocrine tumors: A pancreatic neuroendocrine tumor is a cancer that forms within the hormone-producing cells of the pancreas. The symptoms of pancreatic neuroendocrine tumors vary widely depending on which hormone is affected.

VHL Syndrome Diagnosis

Because VHL syndrome-related tumors are so rare, the presence of a tumor is usually enough to warrant genetic testing. All that’s needed for this test is a blood sample. Genetic material from your blood will be analyzed to check for mutations in the VHL gene.

Children with a family history of VHL syndrome can be tested in utero (during pregnancy) or after birth. It’s important that babies be diagnosed early so that their pediatricians can begin proper screening.

VHL Syndrome Treatment

The VHL mutation cannot be repaired, but the complications of VHL syndrome can be managed with frequent surveillance. When tumors are caught early, treatment is often more successful.

VHL Syndrome Surveillance

To ensure that VHL syndrome-related growths are caught before symptoms develop, your doctor will recommend a yearly screening schedule.

VHL Screening in Adults

• Physical exam (annually)
• Blood pressure check (annually)
• Eye exam (annually)
• Urinalysis (annually)
• MRI scan of the brain and spine (every other year)
• MRI scan of the abdomen (every other year)
• Hearing test (every other year)