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 Von Hippel-Lindau disease 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 Von Hippel-Lindau disease are also at a higher risk than normal for certain types of cancer, especially kidney cancer.

Treatment for Von Hippel-Lindau disease 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 Von Hippel-Lindau disease cases usually involves surgery to remove the tumors before they become harmful. Certain tumors can be treated with focused high-dose irradiation. Individuals with Von Hippel-Lindau disease 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, Von Hippel-Lindau disease 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 Von Hippel-Lindau disease?

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 Von Hippel-Lindau disease. 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 Von Hippel-Lindau disease. 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 Von Hippel-Lindau disease. For example, NNDS scientists hope to learn if a drug that fights other cancers might slow the growth of hemangioblastomas in some people with Von Hippel-Lindau disease. The NIH's National Cancer Institute conducts research aimed at treating kidney tumors in individuals with Von Hippel-Lindau disease, as well as studies to identify gene mutations in people who are at risk of developing the disease.

How can I or my loved one help improve care for people with Von Hippel-Lindau disease?

Consider participating in a clinical trial so clinicians and scientists can learn more about Von Hippel-Lindau disease 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 Von Hippel-Lindau disease at Clinicaltrials.gov.

Where can I find more information about Von Hippel-Lindau disease?

The following organizations and resources help people living with Von Hippel-Lindau disease 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 Von Hippel-Lindau disease is also available:

MedlinePlus

Content source: https://www.ninds.nih.gov/health-information/disorders/von-hippel-lindau-disease-vhl Accessed June 29, 2023.

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