Von Hippel-Lindau (VHL) Syndrome
Von Hippel-Lindau Syndrome is a rare condition that is caused by a mutation in the VHL gene.
The VHL gene plays a role in regulating the growth of blood vessels throughout different areas of the body and when this gene is faulty, it allows benign (non-cancerous) and malignant (cancerous) cancers and cysts to develop in multiple organs, including the brain, spinal cord, kidneys, and pancreas. Many of these are classified as neuroendocrine in origin.
COMING SOON – VHL booklet
Because VHL can affect many different parts of the body, people with the condition require regular surveillance to detect cancers and cysts early, when treatment is most effective. Comprehensive monitoring and tailored treatment plans play a key role in reducing complications and supporting the overall health of those with VHL.
COMING SOON – Surveillance checklist
Most common cancers associated with VHL syndrome and key symptoms.Â
VHL is inherited in an autosomal dominant pattern, meaning that only one parent needs to carry a faulty copy of the VHL gene to pass it on to their child. In approximately 20% of cases, VHL can also arise from a de novo pathogenic variant, where the genetic change occurs spontaneously and is not inherited from either parent. Family members who may be at risk are encouraged to consult a clinical genetics service or a familial cancer centre to discuss the option of predictive genetic testing.
Helpful Resources
Understand your VHL diagnosis and browse our resources in your own time.
Booklets & Guides
COMING SOON
VHL Booklet
Fact Sheets
COMING SOON
VHL Surveillance checklist
Fact Sheets
COMING SOON
VHL Questions to ask
Fact Sheets
COMING SOON
VHL Treatments
Fact Sheets
COMING SOON
VHL Belzutifan fact sheet
Fact Sheets
5HIAA
Causes & Risk Factors
Abdominal Pain in NETs
Booklets & Guides
About NETs
Booklets & Guides
Acronyms & Terminology for Neuroendocrine Cancer Patients
Find a VHL specialist near you
Find experienced doctors and multidisciplinary teams across Australia who specialise in diagnosing and managing VHL.
VHL Patient Stories
Chris, NSW & LA
- Von Hippel-Lindau Syndrome (VHL)
I hope that Belzutifan will be easily accessible in Australia soon because if it does not, it would mean that eventually, my family would have to permanently live in America so that my son Billy, who also has VHL, could take this medication as well when he would need it.Â
Mary, Joyce and Mishy, QLD
- Von Hippel-Lindau Syndrome (VHL)
Belzutifan. It is very expensive. What is the point of having the medication if no one can use it? We really want to get this (Belzutifan) accessible for everyone. This medication helps a lot of people, not just VHL, it helps people who have kidney cancer, pancreatic cysts, brain tumours, and kidney tumours.
Ryan, NSW
- Von Hippel-Lindau Syndrome (VHL)
I urge the Australian Government to place Belzutifan on the PBS. If we can minimise the tumour growth, if not reduce the size, that then reduces the chances of needing surgeries and that reduces the impacts of potentially more disabilities. I’m pretty stuffed as it is. I don’t really want to get any more.
Simon, VIC
- Von Hippel-Lindau Syndrome (VHL)
We need greater awareness of VHL, better education for healthcare professionals, and up-to-date resources to guide patients through diagnosis and care.
Vanessa, ACT
- Von Hippel-Lindau Syndrome (VHL)
I was in my late twenties when I first realised something wasn’t right. I began experiencing numbness in my back, and after months of tests and uncertainty, doctors discovered a cluster of tumours in my spine. That’s when I was diagnosed with VHL.
Sometimes you just need to talk.
Review our list of VHL support services below:
