What Are the Symptoms of Von Hippel-Lindau Disease? Know The Signs Of This Rare Genetic Disease

"Over 90 percent of cases, it is just… a mutation of the gene that is passed on, but about 10 percent are not, you know, there is not a family member that it was passed on from," Dr. Rogers said. It should be noted, however, that while Dr. Rogers says about 10 percent of people with VHL did not have a family history of the disease, Dr. Tobias Else, an endocrinologist who leads the Comprehensive Clinical Care Center for Von Hippel-Lindau disease at the University of Michigan Health Rogel Cancer Center, puts that number at about one-third of VHL patients. And then that person starts a cycle where the mutation has a 50 percent chance of being passed on to their children.

"In Von Hippel-Lindau disease, we also see a good proportion of what we call de novo mutation, so meaning you are the first one in the family, it just happened during development or prior to fertilization at some point, but you are just the first one," Dr. Tobias Else told SurvivorNet.

Where Do Manifestations of Von Hippel-Lindau Disease Occur?

VHL can cause tumors or cysts one or many in various parts of the body, including, but not limited to, the following below:

• The brain and/or spine
• The eyes
• The adrenal glands
• The kidneys
• The pancreas
• The inner ear
• The reproductive organs

With that being said, it is impossible to predict exactly how the disease will present or progress for any particular person making regular surveillance exceedingly important for people living with this disease.

What are the Signs & Symptoms of Von Hippel-Lindau Disease?

The disease can present at any point in life. As mentioned, this makes regular surveillance exceedingly important for people living with VHL. The average age of onset for the condition is 26 years old, according to the National Organization for Rare Disorders, and 97% of people with the VHL gene mutation will experience symptoms by age 65. VHL can look very different as far as symptoms and manifestations of the disease. "It varies in how it is expressed in different patients and families," Dr. Rogers explained.

Signs of the disease may differ significantly depending on how many tumor(s) arise there can be one or multiple and where those tumors are exactly located. "If there are tumors affecting the eyes what we call retinal angiomas it may affect vision, and they may need to go to an ophthalmologist and find these tumors," Dr. Rogers explained. "If there is a tumor pressing on the brain, it may affect things like their ability to walk (gait), do things like perform normal daily activities, or cause headaches." Although VHL tumors can be either cancerous or benign (noncancerous), even benign tumors can lead to severe unwanted health problems.

The tumors that occur in the eyes and the brain are pretty much always benign, according to Dr. Rogers. "They are what we call hemangioblastomas, which are blood vessel based benign tumors. So, they cause harm by pushing on things, not by spreading," he said. "They may eventually lead to blindness or someone could be wheelchair bound or have issues with walking because of these brain tumors that have been removed or are pushing on things."

Some people with VHL develop tumors in their adrenal glands small, triangular-shaped glands located on top of both kidneys which can cause issues with their blood pressure and even lead to stroke or heart attacks. "Maybe their primary care physician is trying to figure out why their blood pressure is so high and why they suffer from occurring headaches," Dr. Rogers said. "So, you can see multiple sorts of portals of entry where somebody could have symptoms."

Kidney and pancreas tumors from Von Hippel-Lindau Disease, on the other hand, are less likely to cause symptoms, according to Dr. Else. He says a little bit of blood in the urine (hematuria) can be a sign of cancerous kidney tumors, but usually, only once the tumor "has become bigger." Please note that if you notice blood in your urine, this is always abnormal, and you should be evaluated by your physician as soon as possible. "The kidney tumors, those are cancerous tumors called renal cell carcinoma that can lead to metastasis and even death," Dr. Rogers explained.

Pancreatic neuroendocrine tumors, or islet tumors, on the other hand, do not really have symptoms, says Dr. Else. "They really only cause concerns once they are too big or once they have started to metastasize elsewhere. Furthermore, that is also why we cannot rely on symptoms alone," Dr. Else said. "That is why we need diagnostic imaging there and for the kidney cancer."

Overall, a VHL diagnosis should absolutely not be considered a death sentence. There are people who live long and productive lives with the disease, according to Dr. Rogers. "There are plenty of patients that do that now because of close monitoring, picking it up early, medications … there are patients that will live a very long time with this," he says.

Final Thoughts

Von Hippel-Lindau Disease is a rare condition, and clinical trials are ongoing to provide more treatment and management options. The goal of therapy is to stop the cancerous tumors from growing and spreading while also managing the non-cancerous benign tumors from causing unwanted complications. Routine surveillance is of utmost importance to catch and mitigate any signs and symptoms as early as possible. Ensure you regularly communicate with your clinical care team to stay well educated on developing therapies and treatment options. Doing so will keep you on the right path to better health.  Check out VHL Alliance for other helpful information about the condition.

Moving Forward – Questions to Ask Your Doctor

• What are the main symptoms I should watch for if I have VHL?
• Where am I most likely to develop VHL tumors?
• How can I treat my VHL?
• What pharmacological treatment options are currently available for my symptoms?
• What is the surveillance plan for VHL?

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