What is Von Hippel-Lindau disease?
Von Hippel-Lindau (VHL) disease is a rare genetic condition that can increase the risk of developing kidney cancer. It may cause tumors to grow in different parts of the body, such as the kidneys, brain, and eyes. While these tumors are often noncancerous, some can be cancerous. In most cases, VHL is passed down through families (hereditary). Sometimes it can develop in someone without a family history due to a new genetic change (de novo alteration).
VHL is treated by different specialists, including endocrinologists, neurosurgeons, and urologists, depending on where the tumors are found. Genetic counselors can help you understand your family’s risk of having VHL. At Penn Medicine’s VHL Syndrome Center, both children and adults can receive specialized care for this condition.
Types of tumors found with VHL
VHL is associated with several types of tumors and cysts, including:
- Cancerous tumors: These include kidney cancer (clear cell renal carcinoma), pancreatic neuroendocrine tumors, pheochromocytomas, and broad ligament cystadenomas.
- Noncancerous tumors: These include hemangioblastomas (in the brain, spinal cord, or retina), epididymal cystadenomas, and endolymphatic sac tumors.
What are the symptoms of Von Hippel-Lindau disease?
VHL disease often doesn’t show noticeable symptoms until tumors start to grow, usually between the ages of 10 and 30. The symptoms you experience depend on where the tumors are located and how big they grow. For example, a tumor pressing on the brain might cause headaches, or balance and dizziness problems. Tumors affecting the eyes or ears might show up as vision problems, hearing loss, or ringing in the ears (tinnitus).
Symptoms of VHL can include:
- Dizziness (vertigo)
- Balance problems
- Muscle or limb weakness
- High blood pressure
- Vision or hearing problems
- Coordination problems (ataxia)
- Vomiting
What causes VHL?
VHL occurs due to a change (mutation) in the VHL gene, which is also called the tumor suppressor gene. The VHL gene plays an important role in controlling cell growth. When there’s a mutation in this gene, it can interfere with these instructions, allowing cells to grow more than they should. This can lead to tumors and cysts.
The greatest risk factor for VHL is having a parent with the condition. We inherit one VHL gene from each parent. If one of the genes has a mutation, it increases your chances of developing tumors.
How is VHL diagnosed?
Genetic testing is the most reliable way to diagnose VHL disease. This involves analyzing a blood sample for mutations in the VHL gene. Early testing and diagnosis are important because VHL is easier to manage when detected early. Some complications may not show symptoms until they become severe.
For pregnant people with a family history of VHL, prenatal genetic testing can be done before delivery or after their child is born.
Your doctor may recommend different tests to diagnose VHL.
How is VHL treated?
VHL can cause various health problems. Surgery is often a key part of treatment for many of these conditions. The specific treatment plan depends on the type of health issue and, if it involves tumors, their location, size, and complications.
Comprehensive care for VHL disease
We’re here to help you manage VHL disease. The Penn Medicine Von Hippel-Lindau Syndrome Center specializes in providing expert care for both children and adults.
We offer a wide range of services, including:
- Diagnosis: Accurately identifying VHL disease
- Treatment: Managing tumors and other complications
- Testing: Checking for genetic changes associated with VHL
- Genetic counseling: Helping you understand your risk and family history
Rated “exceptional” by The National Cancer Institute
Penn Medicine’s Abramson Cancer Center is a world leader in cancer research, patient care, and education. Our status as a national leader in cancer care is reflected in our continuous designation as a Comprehensive Cancer Center by the National Cancer Institute (NCI) since 1973, one of 7 such centers in the United States. The ACC is also a member of the National Comprehensive Cancer Network, one of a select few cancer centers in the U.S., that are working to promote equitable access to high-quality, advanced cancer care.