Symptoms of Von Hippel-Lindau Syndrome

Von Hippel-Lindau syndrome, also known as VHL, is a genetic disease in which cysts (fluid-filled sacs) and tumors develop in multiple areas of the body. Although not all of the tumors are cancerous, people living with VHL are at an increased risk of developing certain types of cancer.

The VHL gene functions as a tumor suppressor gene, which keeps normal cells from growing out of control. When there is a mutation in this gene, VHL can no longer function normally. This causes cells to divide too quickly and grow out of control. This abnormal growth then forms the cysts and tumors associated with this disorder.

The symptoms seen in VHL often depend on the type and location of the developing tumors. This article will review the symptoms of VHL and the complications this syndrome may cause. 

Common Symptoms 

The most common symptoms of VHL are the development of cysts and tumors in the body. Many of these cannot be felt or seen from the outside of the body, but they have the potential to cause a variety of symptoms, some of which can be severe.

Hemangioblastomas (noncancerous, highly vascular, slow-growing tumors) are a common type of tumor seen in VHL. The most common cysts and tumors in VHL and the symptoms they cause are:

• Retinal hemangioblastoma (eye): These occur in up to 60% of people with VHL. Symptoms can include loss of vision. 
• Brain and spinal cord hemangioblastoma: Symptoms include headaches, vision changes, back pain, hiccups, nausea, and feeling off-balance.
• Endolymphatic sac tumor (inner ear): Symptoms can include dizziness, ringing in the ears, and hearing loss.
• Pancreatic cysts: These cysts are in the pancreas, an organ that produces digestive enzymes and hormones that regulate blood sugar. Symptoms can include jaundice (yellow skin and eyes), nausea, and abdominal pain.
• Pheochromocytomas (tumors on the adrenal gland): The adrenal glands produce hormones that regulate metabolism and the stress response. Symptoms can include anxiety and panic attacks, extremely high blood pressure, palpitations, headache, and excessive sweating.
• Kidney cysts: Symptoms can include blood in the urine, tiredness, and low back pain.
• Cystadenomas (located in reproductive organs): Symptoms can include pelvic pain or testicular pain.

Complications

The most significant complication of VHL is when the growing tumors become cancerous. This is most likely to happen in certain organs, specifically the kidneys and the pancreas.

Clear Cell Renal Cell Carcinoma (ccRCC)

The type of kidney cancer that VHL causes is called clear cell renal cell carcinoma. The symptoms of ccRCC include:

• Blood in the urine
• Unintentional weight loss
• Pain in the lower back
• Fever
  

Pancreatic Cancer

The type of pancreatic cancer associated with VHL is pancreatic neuroendocrine tumor (pNET). This type of pancreatic cancer starts in the cells of the pancreas that produce hormones. Symptoms of pNET can include:

• Yellowing of the skin or whites of the eyes
• Abdominal pain
• Palpitations
• Sweating
• Unintentional weight loss
• A lump in the abdomen

When to See a Healthcare Provider

As VHL is often an inherited disorder, the evaluation for the presence of the mutated VHL gene may be done during childhood. Once this disorder is diagnosed, screening tests and imaging may be ordered at regular intervals to check on any tumors or cysts that develop. The screening tests may include:

• Routine physical exams
• Magnetic resonance imaging (MRI, detailed imaging done with magnetic fields)
• Eye exams
• Urinalysis
• Hearing tests
• Regular blood pressure screening
  

If someone has a known diagnosis of VHL and any of the side effects above develop, they should notify their healthcare provider. 

Summary 

Von Hippel-Lindau is a genetic disorder in which a mutation in the VHL gene causes the development of tumors and cysts to form in the body’s organs. Many of these tumors are not cancerous, but this disorder can cause pancreatic and renal cell cancers. 

The symptoms associated with VHL vary depending upon the location of the tumor or cysts but can include headaches, dizziness, blood pressure elevation, vision loss, and blood in the urine.

A Word From Verywell

Receiving a diagnosis of VHL may cause someone a lot of fear and anxiety. It is important to keep up with scheduled imaging and testing to look for the development of any new tumors. It’s also important to report any additional symptoms to your healthcare team so they can evaluate them if necessary. Obtaining a personal family history can be important as well.