What is Von Hippel-Lindau Syndrome (VHL)? Let's talk about it simply.

Have you ever heard of Von Hippel-Lindau Syndrome? You probably haven't. It may sound a bit complicated, but it is a very rare genetic condition. Simply put, a mutation in a gene called VHL causes tumors and fluid-filled cysts to form in various parts of the body. Don't be alarmed when you hear this. Let's talk about it clearly and simply.

What exactly is VHL syndrome?

VHL is a condition caused by a change in our genes. This can cause various parts of your body, for example,

• Eyes
• Brain
• Spinal cord
• Inner ear
• Adrenal glands
• Pancreas
• Kidneys
• Reproductive organs

Tumors can form in places like...

The best part is that most of these growths are benign . That means they are not cancerous. However, someone with this condition has a slightly higher risk of developing kidney and pancreatic cancer than others. That's why it's important to be aware of this.

Why does this VHL syndrome occur?

Normally, the VHL gene in our body controls the growth of tumors by preventing cells from dividing uncontrollably. It's like a guard in our body. But in someone with VHL syndrome, this gene is mutated or changed. Then that guard's job doesn't work properly. As a result, abnormal cells grow out of control and start to form tumors.

There are two main ways this situation can occur:

1. Inheritance from parents: About 8 out of 10 people with VHL inherit it from either their mother or father. It is inherited in an autosomal dominant pattern, meaning that if one parent has the condition, each of their children has a 50% chance of inheriting it.

2. Random occurrence: In about 2 out of 10 cases, this is not something that is inherited from the parents. This condition can occur due to a random change in genes ( spontaneous mutation) during the early stages of development as an embryo.

What are the symptoms of VHL?

The symptoms of VHL can vary greatly from person to person. This is because the symptoms depend on where in your body the tumor is located. Some people can go for years without any symptoms.

Although symptoms often begin around age 26, some people may not develop major symptoms until age 65. The age at which symptoms begin also varies depending on the type of tumor. For example:

• Eye tumors (retinal hemangioblastomas): 12-25 years old
• Tumors of blood vessels in the brain or spinal cord (hemangioblastomas): 18-35 years old
• Kidney tumors or cancer (renal cell): between 25-50 years old
• Inner ear tumors (endolymphatic sac tumors): between 24-35 years old

How is VHL diagnosed?

If someone in your family has the condition, or if your symptoms make your doctor suspect you have VHL, he or she will refer you for a genetic test . This is done with a blood sample. This is the only way to know for sure if you have a change in the VHL gene.

Common situations in which a doctor may suspect VHL include:

• Finding an eye tumor (eye hemangioblastoma) at a young age.
• Kidney cancer before the age of 40.
• Having multiple tumors (hemangioblastomas) in the brain or spinal cord.
• Having multiple tumors or cysts in the kidneys or pancreas.

If you are diagnosed with VHL, the next most important step is active surveillance.

What is Active Surveillance?

This may sound like a big deal, but in simple terms, it means that even if you don't have symptoms, your medical team will be monitoring you regularly. This means that if a new tumor develops or an old one gets bigger, it can be identified very quickly and the necessary treatment can be started. This is the heart of VHL management.

These tests vary depending on your age.

• From an early age (1-4 years): Have your eyes checked by an ophthalmologist every 6 to 12 months. After 2 years, have your blood pressure checked every year.
• Childhood (5-10 years): Eye exams continue. Also, urine or blood tests (metanephrines) are done to check for adrenal gland tumors (pheochromocytomas).
• Adolescence (from age 11): Every few years, an MRI scan is done to look at the brain and spinal cord. Hearing is also checked.
• Adulthood (from 15 years of age): An MRI scan of the abdomen is done every two years to check the kidneys, pancreas, and adrenal glands.

Your doctor will tailor this schedule to suit you.

What are the treatments for VHL?

Treatment for VHL depends on the type, size, and location of the tumor. If the tumor is noncancerous, small, and benign, observation may be sufficient without any treatment.

There are several main treatment methods:

1. Medication: The recently introduced drug belzutifan (Welireg) has been very successful in shrinking and stopping the spread of a number of VHL-related tumors (kidney cancer, hemangioblastomas).

2. Surgery: The most common treatment for VHL is surgery. Cysts that are causing symptoms, are growing, or are showing signs of cancer are removed surgically.

3. Radiation therapy: The use of high-energy rays to destroy tumors. This is used especially for some tumors that occur in the brain and ear.

4. Other treatments: There are modern treatments for kidney cancer such as Ablation (destroying the tumor using extreme heat or extreme cold) and Immunotherapy .

Your medical team will decide what treatment is best for you.

Living with VHL and mental well-being

It's normal to feel scared, anxious, and confused when you learn you have a rare condition like VHL. The stress ("scanxiety") is especially high when you're getting ready for a scan and waiting for the results.

There are several things you can do to live a healthy and happy life with this condition:

• Healthy diet: Eat a balanced diet with plenty of vegetables, fruits, lean meats, and proteins like fish. Avoid smoking completely.
• Exercise: Simple exercise like walking daily can reduce stress and keep your body healthy.
• Mental relaxation: Do things like yoga, meditation, etc. Make time for things that bring you peace of mind (like reading a good book, listening to a song).
• Ask for help: Talk to your family and close friends about this. Share your feelings. If you need help (seeing a doctor, help with homework), don't be afraid to say so.
• Trust your medical team: Ask your doctor any questions or concerns you have. It's also helpful to keep a journal of your symptoms and test results.

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