Symptoms of Von Hippel-Lindau Disease

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Von Hippel-Lindau (VHL) disease is a genetic condition that causes abnormal blood vessel growth throughout your body. These abnormal growths can develop into noncancerous or cancerous tumors and cysts.

The symptoms of VHL tumors vary depending on the area of the body they affect. In this article, the symptoms of these tumors will be discussed, as well as the causes of VHL disease.

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VHL Disease Symptoms

VHL disease itself has no obvious symptoms, but the tumors related to VHL disease may have noticeable signs. The symptoms vary depending on where the tumors are located within the body.

Hemangioblastomas: These are the most common VHL-related tumors and typically occur in the spine, brain, or eye. These tumors are benign (noncancerous) but can be dangerous if they put pressure on the structures within the brain and spinal cord. Symptoms depend on where the tumor forms but include:

  • Balance problems
  • Impaired vision
  • Muscle weakness
  • Headache
  • Backache
  • Neck pain

Pheochromocytomas: Pheochromocytoma is a malignant (cancerous) tumor of the adrenal gland. Symptoms include:

Renal cell carcinoma (RCC): RCC is a cancerous tumor of the kidney. Symptoms of kidney cancer include:

Endolymphatic sac tumors: These are malignant tumors of the inner ear. If left untreated, they can lead to permanent hearing loss. Symptoms include:

  • Hearing loss
  • Tinnitus (ringing in the ears)
  • Vertigo (dizziness)
  • Facial paralysis

Pancreatic neuroendocrine tumors: A pancreatic neuroendocrine tumor is cancer that forms within the hormone-producing cells of the pancreas. The symptoms of these tumors vary depending on which hormone is affected. Some symptoms are:

  • Yellowing of the skin or whites of the eyes (jaundice)
  • Diarrhea
  • Indigestion
  • Pain in the belly or back
  • A lump in the belly
  • Weight loss

Many of these symptoms are likely to be caused by other conditions. Still, if you have any of these symptoms, it’s important to have them checked by your healthcare provider so that the cause can be found and treated if needed.

Recap

The symptoms of VHL-related tumors depend on where in the body the tumors are and can vary from person to person.

For example, tumors in the brain may cause headaches, inner ear tumors may cause dizziness, and blood in your urine may be the result of a kidney tumor.

VHL Disease Genetic Causes

VHL disease is a genetic condition. This means that the risk of developing it can be passed from generation to generation. Inheriting a deletion or mutation (alteration) in the VHL gene gives a person an increased risk of developing VHL-related tumors.

How Is VHL Inherited?

VHL disease is caused by a mutation in one copy of the VHL gene. As genes come in pairs (one from each parent), a person with VHL disease has one altered VHL gene and one normal VHL gene. When people carrying these genes have children, either the altered gene or the normal gene is passed on to each child. 

Each person with an affected parent, therefore, has a 50% chance of inheriting the altered gene.

Not all people with VHL disease will have inherited the gene from an affected parent. In 20% of cases, the altered gene may have started with the currently affected person. This is called a de novo mutation.

Other Risk Factors

There are no specific risk factors that stop the development of VHL-related tumors as the genetic condition cannot be prevented or cured.

However, conditions related to VHL, such as renal cell carcinoma (RCC), can be influenced by a number of risk factors, including:

  • Smoking: People who smoke are 50% more likely to develop RCC. Smoking is thought to be responsible for 30% of kidney cancers in males and 25% of kidney cancers in females.
  • Obesity: People who are overweight or obese (have a body mass index greater than 30) are more likely to develop kidney cancer. Obesity is thought to be responsible for 1 out of 4 kidney cancers.
  • High blood pressure: Men with high blood pressure, also called hypertension, may be more likely to develop kidney cancer.
  • Workplace exposures: Studies have suggested that workplace exposure to certain substances, such as trichloroethylene (a chemical mostly used in industrial solvents and refrigerants), increases the risk for RCC.

The rate of VHL is 1 in 36,000 births, affecting males and females and all ethnic groups equally, and occurring in all parts of the world. Tumors seem to develop in early adulthood but can affect people of any age.

Recap

VHL disease is a genetic condition, mostly passed through generations, but in 20% of cases, it happens in someone with no family history of the disease.

The risk of developing kidney cancer with VHL disease is increased by smoking, obesity, high blood pressure, and exposure to certain chemicals.

Summary

VHL itself does not have symptoms. VHL-related tumors can occur in many areas of the body, and symptoms will depend on where the tumors are. VHL is a genetic condition and is mostly passed down from parent to child. However, in 20% of cases, the disease occurs in someone with no family history.

A Word From Verywell

VHL disease is a genetic condition that cannot be cured or prevented. If you have a parent who is a carrier of a faulty VHL gene, you have a 50% chance of this being passed on to you.

If you know you are a carrier of VHL disease, your healthcare provider will be able to arrange regular screening to check for tumors. Early diagnosis and treatment will greatly improve your prognosis and put you on a path to live a long, fulfilling life.

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7 Sources
Verywell Health uses only high-quality sources, including peer-reviewed studies, to support the facts within our articles. Read our editorial process to learn more about how we fact-check and keep our content accurate, reliable, and trustworthy.
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