Von Hippel-Lindau Disease (VHL)

What is Von Hippel-Lindau disease (VHL)?

Von Hippel-Lindau disease (VHL) is a rare, genetic multi-system disorder in which non-cancerous tumors grow in certain parts of the body. Slow-growing hemgioblastomas—benign tumors with many blood vessels—may develop in the:

  • Brain
  • Spinal cord
  • Retinas of the eyes
  • Near the inner ear

Cysts (fluid-filled sacs) may develop around the hemangioblastomas. Other types of tumors develop in the adrenal glands, the kidneys, or the pancreas. Symptoms of VHL vary among individuals and depend on the size and location of the tumors. Symptoms may include:

  • Headaches
  • Problems with balance and walking
  • Dizziness
  • Weakness of the limbs
  • Vision problems
  • Deafness in one ear
  • High blood pressure

Individuals with VHL are also at a higher risk than normal for certain types of cancer, especially kidney cancer.

Treatment for VHL varies according to the location and size of the tumor. In general, the objective of treatment is to treat the tumors before they grow to a size large enough to cause permanent problems by putting pressure on the brain or spinal cord. This pressure can block the flow of cerebrospinal fluid in the nervous system, impair vision, or create deafness. The Food and Drug Administration has approved belzutifan (Welireg) to treat adults with central nervous system hemangioblastomas and certain other tumors not requiring immediate surgery. Treatment of most VHL cases usually involves surgery to remove the tumors before they become harmful. Certain tumors can be treated with focused high-dose irradiation. Individuals with VHL need careful monitoring by a physician and/or medical team familiar with the disorder.

Prognosis depends on then number, location, and complications of the tumors. Untreated, VHL may result in blindness and/or permanent brain damage. With early detection and treatment, the prognosis is significantly improved. Death is usually caused by complications of brain tumors or kidney cancer.

What are the latest updates on VHL?

The National Institute of Neurological Disorders and Stroke (NINDS) pursues a vigorous program of research aimed at preventing and treating disorders that cause tumors in the brain and spinal cord such as VHL. A natural history study hopes to learn more about the growth of brain and spinal cord tumors, as well as cysts that develop in association with them in individuals with VHL. Researchers will examine how fast the tumors grow and try to determine which factors (such as puberty, pregnancy, menopause, or blood proteins) affect tumor growth. Based on laboratory findings, NINDS researchers are planning drug trials for individuals with VHL. For example, NNDS scientists hope to learn if a drug that fights other cancers might slow the growth of hemangioblastomas in some people with VHL. The NIH's National Cancer Institute conducts research aimed at treating kidney tumors in individuals with VHL, as well as studies to identify gene mutations in people who are at risk of developing the disease.

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Learn About Clinical Trials
Clinical trials are studies that allow us to learn more about disorders and improve care. They can help connect patients with new and upcoming treatment options.

How can I or my loved one help improve care for people with VHL?

Consider participating in a clinical trial so clinicians and scientists can learn more about VHL and related disorders. 

Clinical research uses human volunteers to help researchers learn more about a disorder and perhaps find better ways to safely detect, treat, or prevent disease. All types of volunteers are needed—those who are healthy or may have an illness or disease—of all different ages, sexes, races, and ethnicities to ensure that study results apply to as many people as possible, and that treatments will be safe and effective for everyone who will use them.

For information about participating in clinical research visit NIH Clinical Research Trials and You. Learn about clinical trials currently looking for people with VHL at Clinicaltrials.gov.

 

Where can I find more information about VHL?

The following organizations and resources help people living with VHL and their families, friends, and caregivers:

Genetic Alliance
Phone: 202-966-5557 or 800-336-4363

National Organization for Rare Disorders (NORD)
Phone: 203-744-0100 or 800-999-6673; 844-259-7178 Spanish

VHL Alliance
Phone: 617-277-5667 or 800-712-8712

 

Information about VHL is also available:

MedlinePlus