A rare genetic disorder that significantly increases the risk of developing benign (noncancerous) and malignant (cancerous) tumors to grow throughout the body is called Von Hippel-Lindau disease (VHL). Physicians may also refer to this condition as Von Hippel-Lindau syndrome. It often occurs due to a mutation (change) of certain genes. The most common treatment recommended for people with this disorder is surgery to remove the tumors.
The abnormal gene that causes VHL is often inherited. According to some research, approximately 95% of people who carry this gene will develop tumors caused by VHL.
Cancerous Tumors Associated with Von Hippel-Lindau Disease
If you develop this genetic disorder, you are at increased risk of developing the following types of cancer. Examples include:
- Clear cell renal carcinoma (ccRCC) – This type is one of the most common types of renal cell carcinoma (kidney cancer). About 25% to 60% of people who develop this type of cancer also have VHL.
- Pancreatic neuroendocrine tumors (pancreatic NETs) – In such cases, VHL causes tumors that begin to develop in the pancreas’ endocrine cells. This type of cancer occurs quite rarely, and affects between 9% and 17% who have this genetic disorder.
- Pheochromocytoma – This is a rare type of cancer that usually can be treated. The tumor begins to grow in the adrenal glands. However, not all tumors that develop in the adrenal glands are cancerous. Sometimes, they are benign (noncancerous). Moreover, roughly 15% of people with VHL develop pheochromocytomas.
- Broad ligament cystadenomas – This type of cancer negatively affects about 10% of females with VHL. Thus, a tumor begins to develop near the fallopian tubes.
Noncancerous Tumors Associated with Von Hippel-Lindau Disease
One of the most common benign tumors caused by VHL is a hemangioblastoma. This benign tumor often grows in the blood vessels of the spinal cord, retina, or brain. However, these tumors do not spread from the location where they originate, but can grow large enough to put pressure on nearby structures or organs, causing serious conditions. Check below some types of hemangiomas often linked with VHL:
- Retinal hemangioblastoma – This is a benign tumor that develops in the eye and may cause vision loss. Approximately 60% of people with VHL develop retinal hemangioblastomas, according to some research.
- Brain stem and cerebellar hemangioblastomas – In such cases, the tumor develops in the brain and may cause problems with balance when it grows large enough. This type of hemangioblastoma may affect about 13% to 72% of people with VHL.
- Spinal cord hemangioblastoma – Between 13% and 50% of people who experience Von Hippel-Lindau disease develop this type of benign tumor.
However, VHL may also increase the risk of developing other noncancerous tumors as well as cysts. For example:
- Epididymal cystadenomas – This type of benign tumor often negatively affects men. It develops in the small tube-like structure in the body called the epididymis, which is localized near the testicles. The range of men with VHL who develop epididymal cystadenomas is between 25% and 60%.
- Endolymphatic sac tumors (ELST) – This tumor develops very rarely, usually in the inner ear of a person with VHL. Approximately 17% of people with VHL develop ELST.
- Cysts – These are certain fluid-filled growths that often develop on the kidneys or pancreas in people with VHL.
In general, this is a rare genetic disorder that impacts 1 in 36,000 people. Usually, people with VHL develop symptoms during early adulthood.
Symptoms
Commonly, people with VHL experience different symptoms because it depends on which part of the body is affected, the type and size of the tumor, and other factors. Check below some common symptoms that a person with VHL may experience:
- Loss of balance
- Hypertension (high blood pressure)
- Hearing loss
- Tinnitus (ringing in the ears)
- Headaches
- Vision problems
- Vomiting
- Loss of muscle strength or coordination
Do not hesitate to contact your healthcare professional if any of the symptoms listed above occur.
Causes
This genetic disorder often occurs due to an abnormal gene that is passed from biological parents to their biological children. It is known as the abnormal form of the VHL gene (a tumor suppressor gene that is responsible for managing cell growth). This gene produces specific proteins that put the brakes on growth that may cause cancer.
Furthermore, this condition follows an autosomal dominant inheritance pattern. It means there is a 50% chance of developing VHL if you get only one abnormal VHL gene from one biological parent. Some research shows that approximately 10% of people with VHL have a family history of the disease.
How to Prevent Von Hippel-Lindau Disease?
Unfortunately, it is not possible to prevent this condition, especially if you have a family history of the disease. However, you can perform genetic tests to check for the abnormal gene. It is very important to understand the risks of having children with Von Hippel-Lindau disease. Consult with a genetic counselor if you plan to have a baby.
Diagnosis
Usually, doctors suspect VHL if you experience symptoms of a condition associated with this genetic disorder. These include hemangioblastomas, clear cell renal carcinomas, and others. However, the only way to confirm or rule out this disorder is a genetic test. Discuss it with your healthcare professional for further information.
Treatment
VHL cannot be cured. That’s why the treatment goal is to reduce the symptoms and prevent life-threatening complications. Check below some common treatments often recommended for people with VHL:
- Chemotherapy
- Radiation therapy
- Surgery (this procedure is used to remove the tumors)
- Targeted therapy, including tyrosine kinase inhibitors (TKI) and peptide receptor radionuclide therapy (PPRT)
- Immunotherapy
- Hormone therapy
Frequently Asked Questions
Is there a cure for VHL?
While this genetic disorder cannot be cured, there are multiple treatments that can ease the symptoms and improve your quality of life. Usually, the primary treatment for people with VHL is surgery to remove the tumors.
When should I seek care?
Immediately visit a healthcare professional if you experience any of the following symptoms. For example:
- Sudden increase in blood pressure
- Vision or hearing changes
- Nausea or vomiting without an obvious reason
- Problems with walking, balance, or coordination
What is the life expectancy of someone with VHL syndrome?
Currently, the life expectancy of a person with VHL is estimated to be around 67 years for men and 60 years for women. Ask your healthcare provider if you have additional questions.
