What is VHL?

VHL disease is different in every patient, even within the same family

Since it is impossible to predict exactly how and when the disease will present for each person, it is very important to check regularly for possible VHL manifestations throughout a person’s lifetime. The Active Surveillance Guidelines focus on searching for manifestations that are often problematic. 

Most of these VHL tumors are benign, but that does not mean they are problem-free! In fact, benign VHL tumors can still be very serious. As they grow in size, these tumors and the associated cysts can cause an increased pressure on the structure around them. This pressure can create symptoms including severe pain.

Below are short introductions the manifestations of VHL. We encourage you to download the VHL Patient Handbook for more in-depth information about manifestations and their treatment. We recommend that all patients follow the Active Surveillance Guidelines.

Studies have found that about 17% of people with VHL will develop multiple cysts in the liver, called simple hepatic cysts. These relatively common lesions are asymptomatic and do not become malignant. They can be seen using MRI, CT, or ultrasound imaging.

VHL is associated with benign cysts in the lungs. When first noted at the National Institutes of Health, biopsies were performed. All of the lesions were benign, with no metastases from other organs. The presence of a lung hemangioblastoma is a possible rare manifestation in VHL patients.

In VHL, blood vessel rich tumors form in the brain and spinal cord, called hemangioblastomas. The most common locations of these tumors in the brain are the cerebellum and brainstem. In the spine, it occurs most commonly in the neck, in the cervical spine, particularly on the dorsal surface (back side) of the spinal cord.


When hemangioblastomas occur, they are generally not treated until symptoms begin to develop, or if they are growing rapidly and loss of function is expected. By following the VHL Surveillance Guidelines, early signs may be found. Symptoms may include headaches, nausea, numbness in the arms, legs, or body, dizziness, bowel/bladder incontinence, increased reflexes, incoordination and/or weakness or pain in the arms and legs.


When considering treatment options, always explore the three main choices: surgery, radiation (primarily stereotactic radiosurgery), and medication.

VHL lesions in the reproductive system are classified as cystadenomas. A cystadenoma is a benign tumor with one or more cysts inside it, having more density than a simple cyst.

Epididymal papillary cystadenomas may occur in as many as 50% of VHL patients with male reproductive organs. Similarly, VHL patients with female reproductive organs may develop cystadenomas of the broad ligament. Both lesions are benign, although they may sometimes cause pain or discomfort.

An ELST is a lesion that forms in the endolymphatic sac behind the inner ear. They occur in about 15% of people with VHL. It is often misdiagnosed as Menière’s disease, another condition that is caused by a disturbance in this area.

While it is common for any adult in the general population to have an occasional kidney cyst, VHL-related cysts are usually multiple and in both kidneys. The presence of one or more simple cysts is not a problem in itself. However, in VHL each cyst may contain a small tumor, and it is possible for these tumors to become renal cell carcinomas (RCC), a form of kidney cancer.

There is widespread agreement on the optimal approach to dealing with VHL kidney tumors. In VHL, a person with kidney involvement typically has a series of tumors on both kidneys, which develop over the course of several decades. Removing every little tumor as they appear is not possible because it would involve too many surgeries for the person and organ to endure. The goal of treatment is to maintain the patient’s own kidney function throughout their lifetime, while minimizing the total number of surgeries and removing tumors before they can spread to other organs. The tricky part is to choose the right moment to operate—not too early and not too late.

Pancreatic cysts may be found in a large number of people with VHL, with wide variation among families. About 75% of people with VHL develop pancreatic cysts. Many cysts, even very large ones, may be present without causing symptoms, in which case no treatment is required.


Pancreatic tumors are found in up to 17% of people with VHL. Serous microcystic adenomas are the most common. They are benign and appear as honeycombed clusters of small cysts that look solid on the scans. These generally do not need to be removed, unless they are causing obstructions to the normal flow of fluids and enzymes that cannot be managed otherwise.

Although rare, the most serious pancreatic issue is solid tumors, not cysts, arising within the islet cells of the pancreas. In VHL, these are most commonly pancreatic neuroendocrine tumors (pNETs). Most of these tumors do not metastasize. Although the minority, pNET that do metastasize typically spread to the liver, bone, or other organs. Hence, careful evaluation of pNETs, while they are localized, is necessary to allow timely resection. PNETs are almost never functional in VHL, meaning they do not release hormones that cause symptoms, so chemical blood or urine tests will not help to determine their nature. MRI using gadolinium as the contrast dye is the preferred routine surveillance method for the abdomen, unless MRI is contraindicated, in which case contrast-enhanced CT may be used.

VHL is associated with a usually benign type of tumor occurring in the adrenal glands, called a pheochromocytoma (pheo). Pheos occur more frequently in some families than others. They are rarely malignant (less than 7% of the time) among people with VHL. Detected early, pheos do not cause problems, but they are potentially lethal if not treated. This is especially true during times of heightened stress (surgery, accidents, childbirth, etc.).


Pheos that develop outside of the adrenal glands are called paragangliomas (paras) and are very rare, even in VHL patients. Paragangliomas may occur anywhere on the sympathetic nervous system, which includes anywhere along a line drawn from the groin to the ear lobe, on either side of the body. Multiple tests may be needed to find them.


Research indicates that adrenal tumors are as much as four times more common among people with VHL than previously thought. Even in families that have not previously had a pheo, it is still important to test for the presence of these tumors.