Von Hippel-Lindau syndrome is a rare, inherited disease that causes the growth of cysts and tumors in various parts of the body.
The tumors that occur in people with von Hippel-Lindau syndrome are typically benign but can be cancerous. Treatment depends on the size and location of the tumor.
Although a person is born with it, symptoms tend to appear in young adulthood.
This article will review von Hippel-Lindau syndrome, its symptoms, causes, how doctors diagnose this condition, and treatment options.
Von Hippel-Lindau syndrome, or VHL syndrome, is an inherited condition. It is rare, affecting fewer than 50,000 people in the United States. A mutation in the VHL gene is responsible for causing it.
VHL syndrome causes cysts and tumors in different body areas,
- brain
- eyes
- spinal cord
- adrenal glands
- pancreas
- kidneys
- inner ear
- reproductive organs
While VHL syndrome usually causes benign cysts, the tumors can sometimes be cancerous.
In fact, people with VHL syndrome have a
The symptoms that someone with von Hippel-Lindau syndrome can experience depend on the location and size of the tumors.
They
- dizziness
- headaches
- vision problems
- high blood pressure
- trouble walking or problems with balance
- deafness in one ear
- weakness in the limbs
Von Hippel-Lindau syndrome is an autosomal dominant genetic disease. This means that a person has to only receive one copy of a mutated VHL gene — from either birth parent — to inherit VHL syndrome.
Sometimes, the VHL gene can spontaneously develop a mutation, and this can also lead to disease.
The VHL gene is a tumor suppressor gene, which means it stops cells from growing too fast or uncontrollably. A mutation in the gene leads to the production of atypical VHL protein, affecting how cells divide and grow. As a result, cells may grow too fast or uncontrollably, causing cysts and tumors to form.
About 20% of VHL cases are first-in-family cases.
Generally, diagnosing von Hippel-Lindau syndrome requires a molecular genetic test. This test looks for any variants or mutations of the VHL gene that can cause the disease.
Doctors may also use imaging tests to check if tumors have developed in any part of the body. They make a diagnosis when the tumor presents a tumor characteristic of VHL syndrome.
Once a person receives a VHL syndrome diagnosis, they will require monitoring.
The treatment for von Hippel-Lindau syndrome depends on the symptoms a person experiences, their general health condition, and the location of the tumors.
Brain and spinal cord
If a person develops tumors in the spinal cord or brain, doctors may recommend surgery to remove them. This allows the cysts or tumors to deflate and prevents them from applying pressure to the brain, spinal cord, or nearby regions.
In some cases, a specialist may recommend undergoing radiosurgery, but this procedure does not usually provide much positive benefit over time.
Eye
If tumors occur in the eye, laser surgery or cryotherapy can be used to help prevent any vision loss.
Adrenal glands
In the case that cysts form in the adrenal glands, doctors may recommend a partial removal of the adrenal gland with a laparoscopic partial adrenalectomy.
Learn more about adrenalectomy.
Kidney and pancreas
VHL tumors in the kidney may require radiotherapy or cryotherapy, depending on their size and how rapidly they grow. Both these factors may suggest whether the tumor has started spreading around the body.
If a tumor develops in the pancreas, depending on its type, it may not require treatment. However, if a person develops a pancreatic neuroendocrine tumor, this will require treatment. Doctors will consider the tumor’s size, rate of growth, and the VHL gene variant a person has beforehand.
Medications
The Food and Drug Administration (FDA) has also recently approved the first systemic treatment for von Hippel-Lindau syndrome, called belzutifan (Welireg). It
Still, the surgical removal of the tumors remains the primary treatment method for people with VHL.
Once a person receives a VHL diagnosis, they need to attend regular checkup appointments and undergo surveillance tests to look for the formation of any new tumors or cysts. While most lesions are small and easy to treat, some can cause severe health issues.
In general, people with von Hippel-Lindau syndrome can live a long and fulfilling life. However, depending on the severity of the disease and where the tumors develop, it can sometimes cause critical illness.
Here are some commonly asked questions about von Hippel-Lindau syndrome:
What are the symptoms of von Hippel-Lindau syndrome?
The symptoms of von Hippel-Lindau syndrome vary but
- dizziness
- balance or walking difficulties
- weakness in the limbs
- high blood pressure
- deafness in one ear
- vision problems
- headaches
What is the life expectancy of someone with von Hippel-Lindau disease?
The average life expectancy is
However, new medications and treatment techniques are improving and can provide better support to people with VHL syndrome. This can also affect life expectancy.
Is von Hippel-Lindau treatable?
Currently, there is no cure for von Hippel-Lindau syndrome. However, there are several treatment options that can help manage its symptoms and reduce the risk of complications.
Von Hippel-Lindau (VHL) syndrome is a rare, inherited condition that causes cysts and tumors to form in several areas of the body. These tumors are often benign, but in some cases, they can be cancerous. For this reason, after receiving a VHL diagnosis, people need to attend regular checkup appointments to spot any new growth.
People with VHL may experience various symptoms depending on where the tumors develop. This may include dizziness, vision problems, balance issues, and deafness. There is no cure for VHL, but surgery and new systemic medications can help manage the symptoms of the disease and prevent complications.