Von Hippel-Lindau syndrome is a hereditary cancer syndrome.
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
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.
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.
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.
There are 3 types of results you may receive:
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.
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.
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).
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.
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.
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.
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.
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.
Note: The conditions associated with a faulty VHL gene and their risk estimates may change as more information is available.
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:
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.
You may be clinically diagnosed with VHL if you meet two or more of following criteria:
You should consider genetic testing if you or your family members meet one or more of the following criteria:
The genetic testing criteria and guidelines for VHL testing may change as more information is available.
Personalised managementThere 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.
Familial implicationsYour 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.
Frequent and regular screening is recommended for early detection of tumours/cancers, so that interventions or treatment can happen in a timely manner.
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.
Q: Who is the best person in the family to undergo genetic testing?A: Genetic testing is initially recommended for a family member whose cancer diagnosis/medical history is most suggestive of a hereditary cause (e.g., young or unusual cancer/tumours). It is usually not advisable to test someone without a history of cancer, tumours or clinical features suggestive of VHL.
The genetic test results of an asymptomatic individual may have limitations:
Once the faulty gene in the family is identified, genetic testing can be offered to other family members (including those who do not have cancer) to understand if they have inherited the faulty gene and if so, tailor their management to manage or reduce their risks.
If my genetic test result is positive, it means that I have or will have tumours/cancer, or my tumours/cancer will recur.
FALSE. The genetic test result cannot determine the likelihood of tumour/cancer recurrence or the presence of a tumour/cancer. A positive result only indicates an increased risk of developing a tumour/cancer or a new tumour/cancer developing.
If I test positive, it means that my children will also have VHL.
FALSE. If you have a positive genetic test result where a faulty gene(s) is identified confirming VHL, it means each of your children has a 50% (1 in 2) chance of inheriting the same faulty gene(s).Your grandchildren would only be at risk if their parent (i.e., your child) has inherited the faulty VHL gene. The faulty VHL gene does not skip generations.Even if an individual inherits the faulty gene, it does not guarantee that they will develop tumours/cancer associated with VHL. They only have an increased risk as compared to the general population.
My daughter looks a lot like me, so she must have inherited the faulty gene(s) since I have it.
FALSE. Genes that govern your appearance are different from the genes that determine the risk of VHL syndrome like VHL. All firstdegree relatives (siblings, children, parents) have a 50% (1 in 2) chance of inheriting the faulty VHL gene.
I have two brothers, so one will inherit the faulty gene(s) and one will not, because there is a 50% chance.
FALSE. Each first-degree relative (parents, siblings, children) has a 50% (1 in 2) chance of inheriting the faulty gene(s). The genetic test result of one sibling does not determine the chances of the other sibling.
Download the Von Hippel-Lindau Syndrome brochure.
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