Von Hippel-Lindau Disease – Symptoms And Treatment

Von Hippel-Lindau Disease

The illness known as von Hippel-Lindau disease (VHL) is hereditary and genetic in nature. Individuals with VHL are susceptible to brain, spinal cord, eye, kidney, pancreatic, and adrenal tumor development beginning in early adulthood. While most of these tumors are benign—that is, not cancer—some can be cancerous.

Von Hippel-Lindau Disease

An uncommon genetic condition known as von Hippel-Lindau disease (VHL), or VHL syndrome, results in the formation of tumors and cysts all throughout the body. Every race and gender is equally susceptible to contracting VHL illness, which is present around the world. VHL causes tumor growth, which is why a number of malignancies are frequently a side effect of the illness.

You should anticipate routine testing for growths and malignancies if you are given a VHL diagnosis. Radiation therapy and surgeries are also frequent. For those who have VHL illness, noncancerous tumors can also result in unfavorable side effects, particularly in the brain, spinal cord, eyes, ears, and eyeballs. Complications can be reduced, though, with attentive observation and care.


Tumors associated with VHL can develop in a variety of body locations. This implies that there isn’t just one main symptom. Depending on the location and size of the tumors, you can have symptoms like these:

  • Headaches.
  • Ear ringing or loss of hearing (tinnitus).
  • Rising blood pressure.
  • Imbalance decline.
  • Loss of coordination or muscular strength.
  • Vomiting
  • Issues with vision.

Causes of Von Hippel-Lindau Disease

A genetic mutation or deletion is the cause of VHL. The condition specifically affects the chromosome’s VHL gene. Your body uses a protein known as a hypoxia-inducible factor (HIF) to regulate how cells utilize oxygen.

The genes that code for another protein, appropriately named the VHL protein (pVHL), are found in your VHL gene. pVHL’s function is to break down HIF. There is an equilibrium between pVHL and HIF when the VHL gene is correctly coded.

However, the pVHL gene’s blueprints are erroneous or absent in people with VHL illness, which prevents the protein from performing its function. This indicates that an excess of HIF protein accumulates in the body, which can result in uncontrolled cell development that appears as tumors or cysts.


Testing to see if you have the gene mutation is the only way to determine if you have VHL. If there is a family member with Von Hippel-Lindau disease, discuss with your doctor if genetic testing makes sense for you.

Frequently, medical professionals diagnose a patient who exhibits signs indicative of a VHL tumor. To identify and diagnose tumors, your physician may employ imaging procedures like an MRI or CT scan.


It’s critical to control the condition since tumors can result in major, occasionally lifelong complications. If you are aware that you have VHL, make sure to visit your doctor as often as necessary to keep an eye on your condition. The illness Von Hippel-Lindau is incurable.

Finding and eliminating tumors as soon as possible, before they have an impact on your health, is the aim of therapy. When feasible, your physician could advise surgery to remove tumors. Furthermore, radiation treatment may be effective for some tumors.

The Bottom Line

An uncommon genetic condition – von Hippel-Lindau disease causes tumors to grow in different regions of the body. Everybody’s sickness progresses differently. Certain individuals will not experience many symptoms. There will be other people who have major health problems.

VHL tumors can result in serious health issues even if the majority of them are not cancerous. Thus, people with the condition can live long, robust lives if they receive early treatment for their tumors & careful monitoring.