What Is Von Hippel-Lindau Disease?

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Von Hippel-Lindau (VHL) disease is a rare condition that causes abnormal blood vessel growth throughout different areas of your body. These abnormal growths can further develop into both benign (noncancerous) and malignant (cancerous) tumors and cysts in many parts of the body. Tumors most frequently appear during young adulthood.

People with VHL also have an increased risk of developing renal cell carcinoma (RCC), a type of kidney cancer, as well as a type of tumor in the pancreas known as a pancreatic neuroendocrine tumor (pNET).

This article will discuss the symptoms and causes of VHL, how the condition is diagnosed, its treatment, and its prognosis.

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VHL Disease Symptoms

People who have VHL disease may experience tumors and/or cysts in up to 10 parts of the body, including the brain, eyes, kidneys, pancreas, adrenal glands, and inner ear.

The symptoms will depend on where the tumors and/or cysts are in the body. Some people may be asymptomatic (have no symptoms). Symptoms include:

  • Brain/spinal tumors: Central nervous system hemangioblastomas affect 60%–80% of patients with VHL, making them the most common type of tumor. Although benign, these tumors can cause significant neurological problems. Symptoms include headaches, coordination and balance issues, back pain, and numbness.
  • Retinal (eye) tumors: These affect up to 60% of VHL patients but are typically asymptomatic until complications such as edema (a buildup of fluid), retinal detachment, or glaucoma arise.
  • Endolymphatic sac (inner ear) tumor: This is benign but can erode the bone in the inner ear, which can lead to tinnitus, vertigo, or hearing loss.
  • Pancreatic cysts/tumor: Symptoms include pancreatitis, digestion irritability, malabsorption, and jaundice.
  • Pheochromocytoma (a tumor of the adrenal glands): These are usually benign but may cause symptoms such as headaches, palpitations, heavy sweating, and shakiness.
  • Renal cell carcinoma (RCC): Individuals with VHL disease are at a higher risk than normal for certain types of cancer, especially kidney cancer. RCC occurs in about 70% of individuals with VHL disease by age 60 and is the leading cause of death. Symptoms of RCC include blood in the urine, low back pain, and fatigue.

VHL is rare. However, it is important to discuss any symptoms with your healthcare provider, since they may signal other health problems.

Recap

Symptoms of VHL will depend on where in the body the tumors or cysts are. Sometimes the tumors have no symptoms at all.

What Are the Causes of VHL?

VHL is a genetic condition. This means that the risk of developing certain types of tumors and other features of VHL can be passed from generation to generation.

The gene associated with VHL is a tumor suppressor gene, which helps to control cell growth. Mutations in the VHL gene lead cells to grow and divide uncontrollably. This causes the formation of the tumors associated with VHL disease.

It is estimated that about 1 in 36,000 people have VHL. Although the majority of VHL cases are inherited, in about 20% of cases, the mutation occurs in a person with no family history of the condition. This is called a de novo mutation.

Recap

VHL is a genetic condition, and the risk of developing VHL-related tumors or cysts is mostly passed down through families. However, in 20% of cases, there is no family history of the condition.

How VHL Is Diagnosed

The diagnosis of VHL can be made when molecular genetic testing reveals a change (mutation) in the VHL gene.

If signs and symptoms of a VHL tumor are present, tests will be carried out to help doctors diagnose you. The tests will depend on the area of the body affected and may include:

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

A patient who is diagnosed with VHL disease will normally be advised to have a checkup with their healthcare provider, an eye examination, a kidney ultrasound scan, and a urine test every year. These measures can help catch and treat tumors early.

Recap

The diagnosis of VHL is made by testing for mutations of the VHL gene. Tests to diagnose VHL-related tumors include MRI scans, eye examinations, ultrasound scans, and blood and urine tests. The tests you have will depend on where the tumors are in your body.

What Are the Treatment Options?

Treatment for VHL varies according to the location and size of the tumor. In general, the goal is to treat the tumors before they grow to a size large enough to cause permanent problems.

There is no cure for VHL, but early detection and treatment of tumors significantly improve prognosis.

The treatment for VHL tumors will depend on where in the body they are found and can include:

If tumors are small and/or slow growing, they may not need treatment right away. Your healthcare provider will observe the tumor and determine if treatment is necessary.

Recap

Treatment for VHL varies according to the location and size of the tumor and may include surgery, radiation therapy, laser treatment, or chemotherapy. If tumors are small and/or slow growing, they may not need treatment right away.

Prognosis

The prognosis for individuals with VHL depends on the number, location, and complications of the tumors. Left untreated, VHL may result in blindness and/or permanent brain damage.

Historically, patients with VHL had poor survival rates when compared with the general population, because of the complications of central nervous system or kidney tumors. However, better screening techniques and early diagnosis have been shown to improve outcomes.

Summary

VHL disease is a rare disorder that affects approximately 1 in 36,000 people. Most of these cases involve a gene mutation that has been inherited from a parent.

People who have VHL disease may experience tumors in the brain, eyes, kidneys, pancreas, adrenal glands, and inner ear. Treatment depends on where in the body the tumors are found and can include surgery, radiotherapy, and chemotherapy.

A Word From Verywell

VHL disease is very rare and while it is not curable, it is treatable. Thanks to advances in genetic testing, those who are thought to be at risk can be diagnosed early, and regular screening can begin. With early diagnosis and treatment, the prognosis is greatly improved.

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4 Sources
Verywell Health uses only high-quality sources, including peer-reviewed studies, to support the facts within our articles. Read our editorial process to learn more about how we fact-check and keep our content accurate, reliable, and trustworthy.
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