VHL disease is different in every person, so there are no universal treatment recommendations. Appropriate treatment options can only be determined by careful evaluation of each person’s unique situation including symptoms, test results, imaging studies, and general physical condition. Early diagnosis and active surveillance is key to receiving the best treatment.
There are a number of very effective diagnostic tests and treatments for VHL, and more are being developed. A healthcare team experienced with VHL will advise what diagnostic tests and treatments are most appropriate for each patient.
Evaluation of suspicious areas will likely involve some combination of magnetic resonance imaging (MRI), computed tomography (CT) scanning, positron emission tomography (PET) scanning, ultrasound scanning, and fluorescein angiography.
If a tumor is identified, treatment often includes surgery. People with VHL are encouraged to establish care with the experienced teams at VHL Clinical Care Centers. If patients have their care established somewhere else, they can always seek a second opinion with these specialty teams before receiving treatment for a VHL tumor. Standard treatments for the same tumors in patients without VHL can be very different from those recommended for VHL.
Surgical alternatives such as stereotactic radiosurgery are less invasive but they are not appropriate for every patient. Please review pages 22-25 of the VHL Handbook, “Considering Stereotactic Radiosurgery”, talk to your doctor, and consider seeking a second opinion to discuss the best option for you.
Remember: most VHL tumors are benign, but that does not mean they are problem-free! In fact, benign VHL tumors can still be symptomatic. As they grow in size, these tumors and the associated cysts can cause an increased pressure on the structure around them. It is this pressure that can cause the painful symptoms associated with VHL.
Some VHL tumors can become cancerous, such as those in the kidney and pancreas. The goal is to identify these lesions when they are small, before they spread to other parts of the body. The general consensus is that surgery is recommended only when the largest kidney or pancreatic tumor is greater than 3 cm in any one dimension. This “3 cm rule” was developed to take the cancerous tumor out only when cancer has a chance of metastasizing—spreading to other organs in the body. Some patients wonder: why not take out the tumor as soon as it is found, even it if is only 1 or 2 cm large? The 3 cm rule takes into account that VHL patients may develop kidney tumors again and again and again. Removing the tumor ultimately removes a portion of the kidney. The more kidney that is removed, the more kidney function will decrease. The goal is to balance keeping the most kidney function for the longest amount of time with the risk of cancer spreading (metastasizing) to other organs. Please see page 34 of the VHL Handbook for information about the “3 cm rule”.
In addition to early diagnosis, active surveillance, and treatment of tumors, having a healthy lifestyle, including diet and exercise, can help you manage your VHL.