When is the next VHL patient event?

Please visit out Events page and Latest-News for the latest information on patient events. Don’t forget our fundraising calendar has listings of when our #vhlwarriors are next fundraising!

I am a Medical Professional – how can I be made aware of future VHL events to communicate to patients?

Please join our mailing list where we will send out quarterly notifications of upcoming events , Latest-News and patient support information. Please also feel free to keep a check on our website on these pages for more information. Don’t forget you can Contact-Us for any specific questions.

I am a Medical Professional – How can I connect my patient with the charity?

VHL UK/Ireland is run by volunteers and we have setup a fantastic network of support within the charity and for its patents and carers.

Don’t forget our social media pages too! Links are on the top of any page you visit within the VHL UK/Ireland website. We also have a Facebook Group where there is a fantastic support network of #vhlwarriors always helping each other. Don’t forget our Contact-Us page where a member of the charity will receive your enquiry and come back to you as soon as possible.

England, Scotland, Wales and Northern Ireland

Email: uk@vhl-uk-ireland.org
Tel: +44 (0)808-189-0891 (Free phone)

Write to us :
VHL UK/Ireland
47 Tiln Lane
DN22 6SN

Southern Ireland

Email: ireland@vhl-uk-ireland.org – Gloria Proby
Tel: +44 (0)808-189-0891 (Free phone)

I have questions related to a recent diagnosis – who can i speak to?

This is a worrying time for anyone including carers. Sadly each diagnosis for each individual is different. VHL UK/Ireland recommend you seek information and advice from your Local Genetic Centre who can provide you with information. Our website is packed full of information. Don’t forget our social media pages at the top of the screen and of course our Facebook-Group has many patients and their carers who are always on hand to share information, and as always you can Contact-Us for any specific questions. There are many #vhlwarriors who have inspired so many others to stay positive and stay focused. The disease is only a part of you – it does not define you. Check out our Your-Story page and read about other patients, carers and friends who battle with the disease every day.

Where is my nearest genetic centre?

Download the list of Genetic Centres in the UK. These genetic centres are an excellent starting point for yourself and to assist your GP in the screening process, specialist requirements and more information on these genetic diseases VHL HLRCC and BHD.

I have been diagnosed with VHL – what are my next steps?

This is a worrying time for anyone including carers. Sadly each diagnosis for each individual is different. Some patients experience symptoms in their early 20’s, some don’t experience any symptoms until their 30’s. Some don’t show symptoms at all. VHL UK/Ireland recommend you seek information and advice from your Local Genetic Centre who can provide you with information. Our website is packed full of information. Don’t forget our social media pages at the top of the screen and as always you can Contact-Us for any specific questions. There are many #vhlwarriors who have inspired so many others to stay positive and stay focused. The disease is only a part of you – it does not define you. Check out our Your-Story page and read about other patients, carers and friends who battle with the disease every day.

How can i fund-raise for VHL ?

There are many ways to help raise awareness and fund-raise for VHL UK/Ireland. Please visit our fundraising page for the most up to date information on fundraising, where you can create your sponsorship page and fundraising downloads such as sponsorship forms etc.

I have completed my fundraiser – how do i send you the money raised?

If you have used an online sponsorship page such as the ones mentioned above, funds will automatically be paid to the charity.  However you may receive cash / bank transfer donations and cheque donations.

You can use our Donate page using the button at the top of the screen to PayPal the funds to the charity, or you can Contact-Us / Email us for banking details.  Let us know if you need the UK or Ireland banking details to transfer to.  We advise to use a bank transfer as we do not incur any costs, but if it is easier you can PayPal them across.

For cheques: please make payable to VHL UK/Ireland  and send to VHL UK/Ireland, 47 Tiln Lane, Retford, Notts, DN22 6SN.

What is being done about research?

This is where our charity comes in. VHL is one of the diseases that has benefited from the developments in genetic research. Genetic testing has been possible for over 15 years. Now scientists are working to understand how the protein that the VHL gene codes for works. Various treatment trials in VHL are ongoing throughout the world.One benefit of research would be if it led to a drug treatment that could be taken when the VHL tumours first appear, causing them to stop growing or even shrink. This is not yet possible but hopefully in the next ten or 20 years such treatments may become available. VHL UK/Ireland have funded many research projects so far and we have only just started.  With your help we can help fund more research and find a cure that not only would help VHL patients, but also those who suffer with other cancers.

Reactions to VHL

Some people experience a range of emotions when they are told they have VHL. Anger, shock, anxiety, worry about your health, guilt about possibly passing the gene on to children are all normal reactions.Uncertainty is another problem. Because VHL is variable, even within families, we can’t say how any one person will be affected in the future. As several family members can be affected this can also be difficult. Screening results and possible treatment interventions may be different for family members at different times. People in the family that do not inherit the gene can feel guilty when other close relatives have

What causes VHL?

VHL is often inherited from a parent. About a quarter of all people diagnosed with VHL have no family history of the disease, but can pass VHL on to their children.Our bodies contain thousands of coded messages called genes that send instructions to our body on how to function; for example, what colour to make our eyes or how tall we will grow. The VHL gene makes a protein that is important for the normal function of cells. A mutation (fault) in this gene alters the message the gene sends to the body and causes an increased chance of one of the VHL tumours developing.

You may hear many different words used to describe a gene that is not working properly. The gene may be said to be faulty, altered or changed. The technical term is a mutation which means that the instruction that the gene sends to the body may be different, just as a spelling mistake may alter the meaning of a word.We all have two copies of each of our genes; we get one copy from our mother, the other copy from our father. People with VHL have one faulty copy and one normal copy. When we have children we pass just one of each copy on; the other comes from the other parent.Therefore, each of the children of someone with VHL has a one in two (50%) chance that they will inherit the altered gene. If a person has not inherited a mutation, then they cannot pass it on to their children

How is VHL diagnosed?

Detection of the type of tumors specific to VHL is critical to properly diagnosing the disease. For individuals who have a family history of VHL, detection of only one type of tumor specific to VHL may be sufficient to make a diagnosis. For those patients without a family history of the disease, at least two types of VHL tumors should be identified to confirm a diagnosis. Genetic testing also may helpful in diagnosing the disease. Please contact your GP or your consultant for a blood test should you suspect you have this condition.

It is possible to look for a specific fault in the gene in an affected person. This can be done from a blood sample, since blood cells contain copies of all of our genes. This result will take a couple of months. It is known that current techniques are not yet good enough to find all gene changes, even when the diagnosis of VHL is certain.If the fault in the gene is found then this information can be used to test other members of the family to see whether or not they also have the faulty gene. This test is much quicker taking two to four weeks for a result.If the faulty gene has not been identified, then it may be possible to follow the gene through the family using DNA markers. This will give us a very good indication as to who is likely to carry the faulty gene within a family. Taking this information, alongside screening results, it may be possible to stop the screening programme on those people who are unlikely to have inherited the faulty gene.

Your family history may suggest there is a possibility that you have inherited VHL disease, for example children of a parent with VHL disease each have a one in two (50%) risk of developing the disease regardless of whether they are boys or girls.In the past all children at risk were offered screening very like that offered to people with definite VHL. The screening began with regular eye checks at five years and other checks were added in as the children grew into adulthood.The development of a gene test for VHL has meant that children can be tested, (usually around the age of four or five) to see whether or not they need screening. Those who test negative are not at risk of passing VHL on to their own children in the future. Those with the faulty gene will be screened appropriately.Some parents decide that they would rather the child made his or her own decision about gene testing when they are older. Therefore the child would be screened with eye checks and testing is then offered to them as they grow older and understand more about VHL and their risk. This test for children is only possible if we have been able to identify the specific VHL mutation in the family.

What is a Hemangioblastoma?

A hemangioblastoma is a benign, highly vascular tumor that can occur in the brain, spinal cord, and retina (the light-sensitive tissue that lines the back of the eye). This tumor accounts for about 2% of brain tumors. As it enlarges, it presses on the brain and can cause neurological symptoms, such as headaches, weakness, sensory loss, balance and coordination problems, and/or hydrocephalus (a buildup of spinal fluid in the brain). Most hemangioblastomas occur sporadically. However, some people develop hemangioblastomas as part of a genetic syndrome called von Hippel-Lindau syndrome. These people usually develop multiple tumors within the brain and spinal cord over their lifetime.

How is VHL treated?

Hemangioblastomas of the central nervous system

Microsurgical treatment of hemangioblastomas of the CNS is often ineffective, as the tumors tend to recur after surgery. Stereotactic radiotherapy, a safe, non-invasive method for shrinking tumors, may present a better alternative. It has been shown that small- and medium-sized tumors don’t tend to re-grow after this type of treatment.

Hemangioblastomas of the retina / optic nerve

Hemangioblastomas of the retina are typically treated with a laser, cryotherapy, or plaque radiotherapy .

Renal cell carcinoma

Depending on the extent of the disease, renal cell carcinoma may either be treated with nephron-sparing surgery (removing the tumor while sparing the unaffected portion of the kidney) or a radical nephrectomy (removal of the whole kidney).  It is important for you to understand and in some cases educate your consultant on VHL as the removal of the tumor should be done to help prevent the spread of the cancerous cells to other parts of the body, but should only be done if the tumour reaches a certain size.  Speak to your specialist for further information.

Complications of VHL disease are much easier to treat if they are detected early. For this reason, once the diagnosis is made it is recommended that patients enter an annual screening programme where different parts of the body involved in VHL can be checked out.In this region, patients are offered an annual appointment at a joint neurological/genetics clinic. During the visit they have a consultation and general check up with a clinical geneticist, neurologist and genetic counsellor. They may have their blood pressure checked and a neurological examination performed. The patient also has a detailed eye examination with a consultant ophthalmologist at least once a year.Depending on the age of the patient, MRI scans of the abdomen, brain or spinal cord are arranged. Finally, patients are asked to make a 24-hour urine collection after clinic to check for phaeochromocytomas.

9Von Hippel-Lindau disease (VHL)The frequency of the different tests and screening programme reflects the natural history of the different features of VHL. For example, eyes and kidneys are checked on an annual basis. On the other hand, brain and spinal cord tumours grow slowly, and we know they can be present on scans for many years without causing symptoms. Therefore, some patients choose to have brain or spine scans only if they have symptoms. Other people prefer to have a brain or spine scan every few years.If tumours are detected which need treatment the patient is referred to the specialist for that part of the body. They will discuss in detail how the particular problem should be treated. The majority of VHL tumours can be treated successfully, particularly when detected early.

Can VHL be cured?

Although there is no cure for VHL, the associated tumors can be treated. Early detection and treatment of tumors significantly improves a patient’s diagnosis. Left untreated, VHL may result in blindness, permanent brain damage, or death. Depending on the location of the tumors, our neurosurgical specialists may also collaborate with urologists, ophthalmologists, endocrinologists, and other physicians.

What is VHL disease?

von Hippel Lindau (VHL) disease patients battle a series of malignant and benign tumours/cysts their whole lives.

The gene that is involved in VHL is also involved in other more common cancers, such as kidney cancer and breast cancer. If researchers are able to overcome the gene mutation for VHL, they may be able to do the same for other cancers. Manifestations commonly occur on the retina,
brain and spinal cord, kidneys, pancreas, inner ears and adrenal glands (pheochromocytoma).
VHL disease occurs in 1 in 36,000 births.

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