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Von Hippel-Lindau Syndrome

Von Hippel-Lindau Syndrome - Symptoms

Body parts commonly affected in VHL

  1. Brain and spine
    Tumours called hemangioblastomas can occur in the brain and spinal cord.
  2. Kidneys
    Increased risk of developing a type of kidney cancer.
  3. Pancreas
    A type of pancreatic cancer called pancreatic neuroendocrine tumour can occur. Pancreatic cysts can also occur.
  4. Reproductive tract
    Benign tumours/cysts can occur in the genital tract.
  5. Retina (eyes)
    Tumours can occur at the back of the eye (retina).
  6. Inner ears
    Non-cancerous tumours can occur in the inner ear.
  7. Adrenal glands
    Tumours called phaeochromocytomas can occur in the adrenal glands.

What are the symptoms that patients with VHL may have?

  1. Brain and spine

    Tumours known as hemangioblastomas can form in the blood vessels of the brain and along the spinal cord. While these tumours are non-cancerous, they can cause symptoms depending on where they are located.

    • Brain. Headaches, nausea, vomiting and loss of coordination and balance
    • Spinal cord. Muscle weakness and numbness

  2. Kidneys

    Cysts in the kidneys are also common in individuals with VHL. Individuals are also at increased risk of developing a type of kidney cancer called clear cell renal cell carcinoma.

  3. Pancreas

    Individuals with VHL may develop cysts in their pancreas which are non-cancerous. A tumour called a pancreatic neuroendocrine tumour (pNET) can also develop in the pancreas. These tumours can be benign (non-cancerous) or malignant (cancerous).

  4. Reproductive tract

    Benign tumours/cysts called cystadenomas can develop in the reproductive tract of both females and males. These tumours or cysts can cause discomfort or pain and surgery can be considered to remove them.

  5. Retina (eyes)

    Tumours can occur at the back of the retina and are called retinal angiomas. These tumours can lead to problems with vision or even blindness if not treated. Symptoms affecting vision usually present early in life.

  6. Inner ears

    Non-cancerous tumours can form in the endolymphatic duct of the inner ear, which regulates the balance of an individual. These tumours are called endolymphatic sac tumours, which can cause problems such as hearing loss or deafness. Other symptoms include ringing in the ears, balance problems and dizziness.

  7. Adrenal glands

    Adrenal glands are found on top of the kidneys and are involved in hormone regulation. A type of tumour called a phaeochromocytoma can occur within the adrenal glands. While these tumours are usually non-cancerous, they can cause symptoms such as high blood pressure, headaches, excessive sweating and a fast heart rate, which can lead to other more serious medical complications (such as a heart attack) if undetected and untreated.

It is important to seek prompt medical action when you experience any of the above symptoms associated with VHL, as it will help to minimise irreversible complications and also to ensure you receive screening for the early detection of any tumours and cancers.

What are the tumour and cancer risks associated with VHL?

Individuals with VHL can develop tumours and cysts in various parts of their body, such as their eyes, ears, brain, spinal cord, kidneys, adrenal glands, pancreas and reproductive tract.

Lifetime tumour and cancer risks for individuals with a faulty VHL gene
Tumour/cancer type VHL carrier risk General population risk
Blood vessel tumours
(retinal angiomas)
Up to 92%0.15% for all eye cancers
(cerebellar hemangioblastomas)
Up to 85%Less than 1% for malignant tumours
(spinal hemangioblastomas)
Up to 50%Less than 1% for malignant tumours
Cancers / tumours
Kidney cancer
(renal cell carcinoma)
Up to 80%1 - 2%
Adrenal gland
Up to 30%Rare
(neuroendocrine tumours)
10 - 17%Around 0.03%
(endolymphatic sac tumours)
Up to 4%Less than 1%
Reproductive tract
(epididymal cystadenoma)
For males only
Up to 54%Rare
Reproductive tract
(broad ligament cystadenomas)
For females only

Note: The conditions associated with a faulty VHL gene and their risk estimates may change as more information is available.

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Von Hippel-Lindau Syndrome - Post-surgery care