Von Hippel-Lindau disease (VHL) is a genetic condition caused by genetic changes in the VHL gene that controls cell growth.^1-4 Individuals with VHL disease have an increased risk of developing tumours in multiple parts of the body, such as the brain, eyes, spine, kidneys, pancreas, adrenal glands, inner ears, reproductive tract, and other organs.

Most tumours are non-cancerous (benign) but can cause symptoms and complications if the tumours grow and compress surrounding organs. In some cases, the tumours, particularly those in the kidney, pancreas and adrenal glands, can be cancerous (malignant) and can spread to other parts of the body.

The symptoms of VHL often depend on which organs are affected and can vary between individuals, even between family members that have the same gene variant. Individuals with VHL may develop different tumour types at different stages of life. Currently, there is no way to predict which types of tumours an individual will develop before they occur.

Synonyms: von Hippel-Lindau syndrome; Familial cerebelloretinal angiomatosis; Lindau disease.³

Universal rare disease classifications provide a common language for recording, reporting and monitoring diseases. Please visit the Rare Disease Classifications page for more information about these internationally recognised classifications.

ORPHA:892 Von Hippel-Lindau disease

ICD-11: 5A75 Adrenomedullary hyperfunction

Symptoms vary between individuals and depend on where the tumours occur.^1-3 Most of the tumours are non-cancerous (benign) but in some cases they can still cause symptoms if they press against and affect surrounding organs. Some tumours may be or become cancerous, and lead to further complications.

The types of tumours and associated symptoms that can occur in people with VHL include:

Rare diseases are often serious and progressive, exhibiting a high degree of symptom complexity, leading to significant disability. Majority of the estimated two million Australians living with a rare disease meet the Australian Government’s definition for disability (in accordance to the Australian Public Service Commission and Australian Bureau of Statistics), and many experience severe and permanent disability impacts. If you or someone you care for is experiencing disability-related impacts from a rare condition, please speak with a health or disability professional for advice. Information about relevant disability support can be found at the RARE Portal’s Disability Support Information page.

VHL is a genetic condition. It is caused by disease-causing genetic changes (variants) in the VHL gene on chromosome 3p25.3.⁶ VHL gene is a tumour suppressor gene that can control cell growth in the body.^1,5 When VHL gene is not working properly, cells in some parts of the body grow uncontrollably, leading to abnormal cell growth (tumours).

All individuals have two copies (alleles) of the VHL gene – one on each chromosome that is inherited from each parent. VHL is an autosomal dominant condition, which means that having genetic variant in just one of the VHL gene copies can result in Von Hippel-Lindau disease.¹

The genetic variant can be inherited, which means it can be passed on to the next generation. If a parent has the autosomal dominant gene variant, there is a 50% chance that they will pass that genetic variant to each of their children. More information on autosomal dominant inheritance pattern can be found at Centre for Genetics Education: Autosomal dominant inheritance.

If you would like to learn more about the inheritance and impact of this condition, please ask your doctor for a referral to a genetic counsellor. Genetic counsellors are qualified allied health professionals who can provide information and support regarding genetic conditions and testing. More information about genetic counselling can be found at:

• Information on Genetic Services
• The National and State Services pages underneath the ‘Genetic Counselling’ sections listed

Diagnosis of VHL may be made based on:^4,7,8

• family medical history
• physical examination, including blood pressure measurements and blood tests
• neurological tests (testing balance, coordination and sensory function), eye tests, and hearing tests
• medical imaging to look for tumours, such as magnetic resonance imaging (MRI), computed tomography (CT), positron emission tomography (PET), and ultrasound scan
• confirmation of VHL diagnosis by genetic testing

After a diagnosis of VHL, further screening may be recommended to look for tumours in other areas of the body.

As part of the diagnostic process, doctors may do a differential diagnosis, where they rule out other conditions that have similar symptoms, such as multiple endocrine neoplasia, neurofibromatosis type 1, polycystic kidney disease, hereditary kidney cancers, tuberous sclerosis, Birt-Hogg-Dube syndrome, hereditary pheochromocytoma-paraganglioma syndromes, sickle cell anaemia, BAP1-associated tumour syndrome, MITF-associated tumour syndrome, CDKN2B associated tumour syndrome, renal cysts and diabetes (RCAD) syndrome, neuro-oculo-cutanous- cavaernous hemeangiomas syndrome, FH tumour predisposition syndrome, and Ménière disease.^3,6,7

Please speak to your medical team to learn more about the available diagnostic pathways for VHL.

There is currently no curative treatment for VHL. Management is targeted at monitoring for tumours, and treatment of the tumours on a case-by-case basis.¹⁰ This may involve a multidisciplinary care team.

It is recommended that individuals with VHL undergo regular cancer surveillance to ensure early detection and treatment of tumours before serious complications arise. Surveillance plans vary between individuals and may depend on factors such as an individual’s medical history, history of tumours, and age.^7,10-13 This may include physical examinations, blood tests, eye tests, hearing tests, neurological tests, and imaging of the brain, spinal cord, abdomen, and auditory canal every year or every two years.

Treatment for tumours may include:^4,5,10,12,14

• removal of tumours by surgery
• shrinking of tumours using chemotherapy, radiation, ablation, and other methods
• slowing tumour growth using VHL specific medication

A combination of these approaches may be used. Treatment may be dependent on several factors such as type of tumour, its location, whether it is benign or malignant, the age and health of the affected individual and their preferences.

Please speak to your medical team to learn more about the possible treatment or management options for your condition. Treatment will depend on an individual’s specific condition and symptoms. It is also important to stay connected to your medical team so that you can be made aware of any upcoming clinical trial opportunities.

Healthcare professionals involved in the care of people with VHL may include general practitioners (GP), paediatricians, clinical geneticists, genetic counsellors, oncologists, neurologists, ophthalmologists, endocrinologists, urologists, radiologists, audiologists, and nurses.^4,6 The need for different healthcare professionals may change over a person’s lifetime and extend beyond those listed here.

Clinical care for rare diseases often involves a multidisciplinary team of medical, care and support professionals. Please note that the information provided here is as a guide and that RVA does not necessarily monitor or endorse specific clinics or health experts.

For many rare diseases, palliative care services may be relevant and useful. Palliative care services are available for people (adults, children and their families) living with a life-limiting illness. Palliative care services provide assistance, support, resources and tools to help people manage their illness and the symptoms, ease pain, and improve comfort and quality of life. Palliative care is not only for end-of-life care. It can also help at any stage of illness from diagnosis onwards, and will look different for different people. For more information about palliative care and how it can help you, please visit:

• Australian Institute of Health and Welfare: Palliative care Overview
• Australian Government Department of Health, Disability and Ageing: Palliative care
• Palliative Care Australia

We are not aware of any clinical care guidelines for VHL in Australia. If you know of any relevant care guidelines, please let us know via the Contribute page.

The following guidance is available from international experts outside Australia; however, there may be information that is not relevant or applicable to the Australian context, and may not be up to date:

• Guidelines for surveillance of patients with von Hippel-Lindau disease: Consensus statement of the International VHL Surveillance Guidelines Consortium and VHL Alliance developed by international experts in each VHL disease manifestation, published in 2023.

• von Hippel-Lindau disease: Updated guideline for diagnosis and surveillance developed by Danish experts, published in 2022.

Individuals living with rare diseases may have complex medical issues and disabilities, which are not always visible. It is often useful to refer to their medical history as well as personal information such as a medical card, doctor’s letter, or if available, a rare disease passport, for relevant information.

There are specific considerations around participating in rare disease research, including clinical trials. It is important to be mindful of issues such as data privacy, research ethics, consent and differences in research regulations between Australia and other countries.

If you are interested in finding clinical trials for your condition, please visit the following websites; however, there may not be any clinical trials available:

• Australian Clinical Trials
• ClinicalTrials.gov

It is best to discuss your interest in any clinical trials with your medical team to determine suitability and eligibility.

Australian Organisations:
We are not aware of any rare disease organisations specifically for VHL in Australia. If you are aware of any, please let us know via the Contribute page. The following organisations provide support for people affected with cancers:

Rare Cancers Australia
Website: https://www.rarecancers.org.au/knowledgebase/cancer-types/von-hippel-lindau-vhl/
Rare Cancers Australia is a charity whose purpose is to improve awareness, support and treatment of Australians with rare and less common (RLC) cancers.

Neuroendocrine Cancer Australia
Website: https://neuroendocrine.org.au/
Neuroendocrine Cancer Australia (NECA) provide resources and educational programs to improve patient care and understanding of neuroendocrine tumours.

International Organisation:
VHL Alliance (United States of America)
Website: https://vhl.org/

Please note that RVA does not monitor or endorse each group/organisation’s operational governance and activities. When engaging with a group, please consider the information on the RARE Portal’s Finding Helpful Peer and Community Supports page.

VHL varies between individuals, and each person’s experience is unique.

This research article, published in 2014, highlighted the perspectives of Australian living with VHL: Through the looking glass: an exploratory study of the lived experiences and unmet needs of families affected by Von Hippel–Lindau disease

If you would like to share your personal story with RVA, please visit the Rare Voices Australia: Share Your Story page. RVA will consider your story for publishing on our website and inclusion on the RARE Portal.

Neuroendocrine Cancer Australia: NET Nurse is a free telephone information and support service for those diagnosed and living with neuroendocrine tumours (NET), including individuals with Von Hippel-Lindau syndrome and their families.

For information on available government and social services that provide support for individuals with a rare disease, please visit the National and State Services pages.

People living with a rare disease, including families and carers, often face unique challenges such as diagnostic delays, misdiagnoses, limited treatment options, and limited access to rare disease specialists and support. These challenges may impact people’s emotional wellbeing and quality of life. Many people find it helpful to seek mental health and wellbeing support to cope with ongoing stress and uncertainty. Connecting with people who have shared experiences through a support group may also be helpful. Information about relevant mental health and wellbeing support can be found at:

• Mental Health and Wellbeing Support for Australians Living with a Rare Disease
• The National and State Services pages underneath the ‘Mental Health’ sections listed

Further information on VHL can be found at:

• NSW Government & eviQ: Facts for people and families with Von Hippel-Lindau disease
• NeuroEndocrine Cancer Australia: Von Hippel-Lindau (VHL): Understanding and Management
• Rare Cancers Australia: von Hippel-Lindau (VHL)
• VHL Alliance: What is VHL?
• Genetic and Rare Diseases (GARD) Information Center: Von hippel-lindau disease
• National Organization for Rare Disorders (NORD): Von Hippel-Lindau Disease

NSW Government & eviQ: VHL (von Hippel-Lindau) disease – risk management

NSW Government & eviQ: VHL – genetic testing

GeneReviews®: Von Hippel-Lindau Syndrome

Online Mendelian Inheritance in Man, OMIM^®:#193300 Von Hippel-Lindau syndrome; VHLS

Orphanet: Von Hippel-Lindau disease

This page has been developed by Rare Voices Australia (RVA)’s RARE Portal team.

If you are aware of any additional information that may benefit stakeholders with an interest in this page, or if you notice any broken links or inaccurate information, please let us know via the Contribute page.