Von Hippel-Lindau (VHL) Syndrome

What is von Hippel-Lindau (VHL) syndrome?

Von Hippel-Lindau syndrome, or VHL, is a rare inherited disorder that is characterized by the formation of tumors and cysts in different parts of the body. These tumors and cysts are typically developed in the retinal, brain, spine kidneys, pancreas, adrenal, endolymphatic sac (inner ear), and genital tract, but have the potential to occur in up to ten different parts of the body. The tumors are highly vascularized, appearing as knots formed by tiny blood vessels. They can be either cancerous or noncancerous.

People with VHL syndrome are also at an increased risk for developing renal cell carcinoma (RCC) and pancreatic neuroendocrine tumors (pNETs).

What causes von Hippel-Lindau (VHL) syndrome?

VHL syndrome is a genetic condition caused by a mutation in one of two copies of the VHL gene. This mutation is inherited in an autosomal dominant inheritance pattern. However, about 20% of people with VHL do not have any family history of the condition.

What are the manifestations of von Hippel-Lindau (VHL) syndrome?

The age of onset of VHL manifestations varies from family to family, and even from individual to individual. The average age of first manifestation is in the early 20’s, but can occur earlier in life or into one’s middle age. The most common manifestation of VHL is hemangioblastomas in the retina, brain or spine. Even though the tumors are benign, the brain and spine tumors and/or cysts can exert pressure on the brain or spinal cord, causing additional symptoms such as headaches, balance problems, and vision problems. Adrenal tumors can cause high blood pressure, panic attacks, heavy sweating, digestive problems. Retinal tumors can lead to blindness and endolymphatic sac can result in loss of hearing and balance problems. Depending on location, pancreatic tumors can lead to changes in pancreatic function.

How is von Hippel-Lindau (VHL) syndrome diagnosed?

The only way to diagnose VHL is with genetic testing. Nearly all people with VHL will be found to have a genetic mutation in their VHL gene once tested.

VHL is suspected when a person has:

• Multiple hemangioblastomas of the brain, spinal cord, or eye, or
• 1 hemangioblastoma and clear cell kidney cancer, pancreatic cysts, pheochromocytoma, endolymphatic sac tumor, or a epididymal cyst
• In young patients, VHL is also suspected with multiple bilateral clear cell renal cell carcinoma, meaning cancer in both kidneys

If a person has a family history of VHL, they are suspected of also having VHL if the person has any 1 symptom, such as hemangioblastoma, kidney or pancreatic cysts, pheochromocytoma, or kidney cancer.

What are the available treatments for von Hippel-Lindau (VHL) syndrome?

Without a pharmacological treatment available, treatment for VHL revolves around surgery to remove the tumor is the only option. 

One of the greatest needs towards developing better tools to manage VHL is patient data for use in VHL research. The MyVHL: Patient Natural History Study is an online registry where patients can contribute to VHL research by participating and sharing their stories.

Where can I find more information on von Hippel-Lindau (VHL) syndrome?

·         VHL Alliance 

·         National Organization for Rare Disorders (NORD)

·         NIH