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Von Hippel-Lindau Syndrome

Von Hippel-Lindau Syndrome - What is it for

Von Hippel-Lindau syndrome is a hereditary cancer syndrome.

What is von Hippel-Lindau syndrome (VHL)?

Von Hippel-Lindau syndrome (VHL) is a hereditary condition where cancerous and non-cancerous tumours and cysts can grow in certain parts of the body.

VHL is associated with a faulty (disease-causing) copy of the VHL gene.

Individuals who carry a faulty VHL gene face an increased risk of certain tumours and cancers over their lifetime, but it does not mean that they will definitely develop cancer/tumours.

What is hereditary cancer?

Hereditary cancer makes up about 5-10% of all cases of cancer. Some genes function to protect us from cancer. When they are not working well, it causes hereditary cancer. We refer to genes that are not working well as faulty genes.

Individuals who carry a faulty cancer gene(s) have a higher chance of developing certain cancers over their lifetime compared to the general population. The types of cancers that they may be at increased risk of will depend on the gene(s) involved.

If you have a faulty cancer gene, you may be at increased risk of developing certain cancers. As genes are shared among family, other family members may have inherited the faulty gene and may be at increased risk of cancer too.

What is genetic testing?

Genetic testing is offered to individuals where a hereditary cause of their personal and/or family history of cancer is suspected.

Genes contain the instructions that our body reads to carry out different functions. Genetic testing involves analysing your genes to understand if there are faults (i.e., mutations) that may increase the risk of diseases like cancer.

How is genetic testing done?

  • Genetic testing is typically a one-time blood test.
  • If a blood sample cannot be taken, other sample sources (e.g., skin or saliva) may be used.

What are the possible results of genetic testing?

There are 3 types of results you may receive:

Positive Uncertain - Variant of Uncertain Significance (VUS) Negative
Faulty gene(s) identifiedUncertain gene change(s) identified, unclear if these change(s) increase risk for tumours and cancersNo faulty gene(s) identified
Increased risk of developing certain tumours and cancers (depends on faulty gene(s) involved)May be clarified by testing other family membersTumour and cancer risk is similar to that of general population
Your family (parents, siblings, children and extended relatives) may have inherited the faulty gene(s) and should consider genetic testing to clarify thisMay be reclassified over time as ‘positive’ or ‘negative’ when more information is knownTest limitations will be explained in the context of your personal and family history of clinical features

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.

Von Hippel-Lindau Syndrome - How to prevent?

Von Hippel-Lindau Syndrome - Causes and Risk Factors

How is VHL inherited?

VHL runs in families and can be passed down. It can affect both males and females.

VHL follows a dominant inheritance pattern. This means that having one faulty copy of the VHL gene can cause the condition.

Everyone has 2 copies of each gene in their body’s cells:

  • 1 copy comes from our father
  • 1 copy comes from our mother
Dominant inheritance pattern - Von Hippel-Lindau Syndrome
  • A parent with a faulty gene(s) has a 50% chance of passing down their faulty gene(s) to their children.
  • A child, sibling or parent of a family member with a faulty gene(s) has a 50% chance of also inheriting the same faulty gene(s).
  • Extended relatives may also inherit the faulty gene(s).

While VHL may run in families, an estimated 20% of individuals with VHL may have acquired a faulty VHL gene at birth (de novo). Therefore, genetic testing may be offered in the absence of relevant family history if an individual’s personal history is suspicious for VHL.

Von Hippel-Lindau Syndrome - Diagnosis

How is VHL diagnosed by doctors?

You may be clinically diagnosed with VHL if you meet two or more of following criteria:

  • Two or more hemangioblastomas of the retina, spine or brain, or a single hemangioblastoma in association with multiple kidney or pancreatic cysts
  • Renal cell carcinoma
  • Phaeochromocytoma
  • Endolymphatic sac tumours (ELST), papillary cystadenomas of the epididymis or broad ligament, or neuroendocrine tumours of the pancreas

Who should undergo genetic testing for VHL?

You should consider genetic testing if you or your family members meet one or more of the following criteria:

  • Clinically diagnosed with VHL
  • Clear cell renal cell carcinoma before the age of 40
  • Bilateral or multifocal clear cell renal cell carcinoma
  • Retinal angioma before the age of 40
  • Brain hemangioblastoma before the age of 30
  • Phaeochromocytoma before the age of 50
  • A family history of phaeochromocytoma/paraganglioma
  • Pancreatic neuroendocrine tumour
  • ELST at any age
  • Consideration of pregnancy with a known family history of VHL
  • A previously identified faulty VHL gene in the family

The genetic testing criteria and guidelines for VHL testing may change as more information is available.

How can your genetic test result help you?

  1. Personalised management
    There are several hereditary conditions (associated with different genes) which can predispose to features/symptoms similar to what is seen in individuals with VHL.

    Genetic testing is therefore beneficial to confirm a diagnosis of VHL, to determine whether personalised recommendations such as early and regular screenings are necessary to reduce risks associated with the condition.

    As VHL is a hereditary condition, testing can also help inform of reproductive risks, and help determine if testing is necessary for your family members and facilitate testing if so.

  2. Familial implications
    Your genetic test result can also help you understand if other family members are at risk of VHL. They can subsequently consider their own testing (predictive testing) to clarify their carrier status to determine tumour and cancer risks.

    Family members who have inherited the same faulty VHL gene may be at increased risk of tumours and cancer and can benefit from management options such as screening (to detect tumours and cancer at an early and manageable stage) or surgery (to reduce their risk of cancer).

    Family members who did not inherit the faulty VHL gene can avoid unnecessary screening and worry. Their children will also not be at risk.

Von Hippel-Lindau Syndrome - Treatments

What can I do to manage my increased risk of tumours and cancer?

Frequent and regular screening is recommended for early detection of tumours/cancers, so that interventions or treatment can happen in a timely manner.


  • General
    • Regular MRI scans focusing on the brain stem, spine and abdomen to check for tumours
    • Consider abdominal ultrasounds to detect for pancreatic tumours and kidney cancers
    • Report unusual symptoms (especially in your vision/hearing/balance) to your doctor
  • Adrenal tumours (phaeochromocytomas)
    • Blood pressure measurement
    • Blood/urine test to test for hormone levels
    • Further imaging such as CT/MRI scans may be ordered when there are abnormal blood test results
  • Eye tumours (retina angiomas)
    • Regular eye examinations by an eye specialist
    • Report unusual symptoms such as changes in vision
  • Ear tumours (endolymphatic sac tumours)
    • Regular hearing tests
    • Further imaging (CT/MRI) may be ordered when hearing problems are reported

Your managing doctor(s) will discuss screening recommendations with you in greater detail. The age and onset of screening may depend on your personal and/or family history of cancer. Screening guidelines may change as more information is known.

Von Hippel-Lindau Syndrome - Preparing for surgery

Von Hippel-Lindau Syndrome - Post-surgery care

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