Von Hippel-Lindau Disease

Why choose UCLA Health for VHL disease care?

UCLA Health's Von Hippel-Lindau (VHL) Disease Program is the only VHL clinical care center in Southern California recognized by the VHL Alliance and one of only a few in the western United States. This designation means you receive treatment from a coordinated, multispecialty team of VHL experts that you can trust to provide you with comprehensive care.

Highlights of our program include:

Multispecialty care: Our team works closely with UCLA Health Jonsson Comprehensive Cancer Center experts and others. We collaborate with specialists in urology, ophthalmology, neurosurgery, surgical oncology, gastroenterology, clinical genetics, neurology, radiology and nuclear medicine to provide coordinated, comprehensive care.  

High volumes: We treat more than 100 patients at UCLA Health with VHL each year, making us one of the largest VHL programs in the western United States. Our physicians have extensive experience in VHL treatment.

Physician-leaders: UCLA Health physicians are active researchers that focus on VHL and related conditions, as well as clinicians who continually bring you the latest therapies in their areas of specialization. Several of our team members serve on boards of the VHL Alliance, where they contribute to establishing VHL treatment guidelines and setting the priority for research in this area.

Genetic testing and counseling: A team of genetic counselors provides individualized testing and counseling for VHL disease. Even before birth, maternal-fetal medicine and reproductive health specialists can offer genetic testing and discuss family planning options with you.

Access to care: Telehealth appointments expand access to our expert care. Family members who live far away may receive specialized VHL care from various providers.

What is Von Hippel-Lindau (VHL) disease?

VHL disease is a rare genetic condition (1 in 30,000 births) characterized by the growth of tumors and cysts throughout the body. These tumors may be noncancerous (benign) or cancerous (malignant). The symptoms of VHL disease usually appear in young adulthood but can affect people of all ages. Nearly all patients with VHL have a tumor before age 60.

What types of tumors occur in VHL disease?

People with VHL disease have a higher risk of developing tumors or cysts in organs throughout their body. VHL disease is commonly associated with specific types of tumors and cysts, including:

Adrenal tumors: Pheochromocytoma is a tumor that arises from the adrenal gland, which is responsible for producing various hormones. It affects around one-in-five patients with VHL disease. These tumors can secrete adrenaline and may cause high blood pressure, rapid heart rate (tachycardia), periods of too-fast heartbeats (palpitations), headaches, sweating or nausea.

Endolymphatic sac tumors: These rare tumors grow in the inner ear. They can cause sensations of ear fullness, partial or complete hearing loss and ringing or buzzing in the ears (tinnitus).

Brain and spinal cord tumors: Many people with VHL disease develop hemangioblastomas, tumors that form from new blood vessels in the brain or spinal cord. Hemangioblastomas may cause neurologic symptoms. Depending on the tumor location, symptoms may include muscle weakness, loss of coordination, vomiting or headaches.

Pancreatic tumors and cysts: Many people with VHL disease have cysts that grow on their pancreas, an organ that helps digest food and regulate blood sugar. Less commonly, people with VHL disease develop pancreatic neuroendocrine tumors (pNET). Pancreatic cysts and tumors rarely cause symptoms but may compress nearby organs if they grow large and spread to distant sites.

Renal cysts and tumors: More than half of people with VHL disease develop cysts or tumors on their kidneys, the organs that produce urine to remove waste and excess fluid from your blood. Small tumors may cause no symptoms, while large ones can lead to pain, an abdominal mass or blood in your urine. Large tumors also have the potential to spread to distant locations.

Reproductive lesions: A noncancerous tumor called a cystadenoma develops in about half of all men with VHL disease. A similar rare tumor has been described in women with VHL disease in the pelvis (within the broad ligament). Cystadenomas often cause no symptoms but may lead to pain and pressure in the scrotum or pelvic area.

Retinal tumors: A retinal hemangioblastoma forms in the tissue lining the back of the eye (retina). These tumors may cause vision loss or, in severe cases, blindness.

VHL disease treatments we offer

With appropriate treatment, people with VHL disease can live a long and healthy life. But patients often may need multiple surgeries to ensure that tumors or cysts don't cause long-term organ damage. Our specialists monitor you regularly to look for signs of new tumors or cysts or check the growth of an existing tumor or cyst.

If you have a tumor or cyst, treatment may include:

Active surveillance: Your doctor monitors the tumor or cyst without any formal medical treatment to see if it grows or if you develop new symptoms. We may not need to intervene immediately if a tumor or cyst isn't causing symptoms.

Oral medication: You may take belzutifan, an oral medication that can help shrink a tumor or stop it from growing further. Belzutifan is approved by the U.S. Food and Drug Administration (FDA) for people with VHL disease who have kidney, pancreatic, brain or spinal cord tumors that will require treatment but do not need immediate surgery.

Laser treatment: Your doctor uses laser energy to shrink or destroy a retinal tumor. They aim the laser through your pupil and target the blood vessels around the tumor. 

Photodynamic therapy: You receive an injection of a photosensitizer, a medication activated by light. Then your doctor directs laser energy through your pupil to the back of your eye. The laser activates the photosensitizer to destroy a retinal tumor and the blood vessels that supply it.

Ablation: Some VHL-associated renal tumors can be treated with a needle. Using extreme temperatures (heat or cold) may destroy the cancer. For some people, this approach may provide outcomes similar to surgery while reducing complication rates.

Embolization: In this minimally invasive procedure, we use a long, hollow tube (catheter) to access the blood vessels supplying the tumor. Your doctor injects a substance into the blood vessels to block blood supply to the tumor. We may use embolization to lower the risk of bleeding before surgically removing the tumor.  

Stereotactic radiation therapy: This external radiation therapy targets brain or spinal cord tumors with precisely focused radiation beams. You wear a head frame or face mask that helps stabilize your head. Your doctor uses imaging scans and specialized software to plan and deliver focused radiation therapy to the tumor. 

Open, robotic or laparoscopic surgical resection: Our doctors treat many tumors by surgically removing them. The doctor may use an open approach, operating through one large incision. Or they may be able to perform a minimally invasive technique using small instruments and cameras through tiny incisions. Our doctors frequently perform open and minimally invasive surgery for VHL-associated central nervous system (CNS) and spinal hemangioblastomas, pancreatic neuroendocrine tumors, pheochromocytomas and renal cell carcinomas.

Vitrectomy: In some cases, you may need a vitrectomy to treat a VHL-associated hemangioblastoma. During this procedure, an ophthalmologist removes the tumor and part or all of the vitreous, the gel-like fluid in the middle of your eye. They replace the vitreous with an oil or gas bubble or a saline solution to help your retina stay in place. As you heal, your eye replaces the liquid or bubble with a natural fluid called aqueous humor.

Our expert team

Our experts are active researchers and clinical leaders who bring you the most advanced treatment options. Our multispecialty approach allows us to offer comprehensive care for patients with VHL disease.

Contact us

Call 310-794-2858 to request an appointment with a VHL disease specialist at UCLA Health.