Patient Foundation
VHL Alliance
Education, surveillance resources, patient support, and community connection for people living with VHL.
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Rare genetic diseaseLifelong surveillanceMulti-system careHereditary cancer riskClinical trials
Von Hippel–Lindau disease
your guide, one page.
VHL is something a person is born with. It can make growths form in different parts of the body. Most growths are not cancer, but a few — mostly in the kidneys or pancreas — can turn into cancer. The main job after finding VHL is to keep a close eye on the body over time, with a team that knows the condition.
Von Hippel–Lindau disease (VHL) is a rare inherited condition that can cause tumors and cysts to grow in different organs. Some growths aren't cancer but can still cause problems depending on where they are; others, especially certain kidney and pancreas tumors, can become cancerous. The main next step is a lifelong monitoring plan with a care team that understands VHL, plus genetic counseling for the family.
VHL is an inherited condition caused by a change in the VHL gene. It predisposes people to benign and malignant tumors and cysts across several organ systems — including the eyes, brain and spine, kidneys, adrenal glands, and pancreas. Lifelong, multi-organ surveillance coordinated across specialists is the cornerstone of care, and family members may benefit from genetic testing.
Von Hippel–Lindau disease is an autosomal dominant hereditary cancer syndrome caused by germline pathogenic variants in the VHL tumor-suppressor gene. Manifestations include CNS and retinal hemangioblastomas, clear cell RCC and renal cysts, pheochromocytoma/paraganglioma, pancreatic cysts and neuroendocrine tumors, and endolymphatic sac tumors. Management centers on structured lifelong surveillance and lesion-directed therapy, with belzutifan available for select non-surgical disease.
VHL results from biallelic inactivation of the VHL tumor suppressor (3p25.3), impairing pVHL-mediated ubiquitination of HIF-α and driving constitutive HIF-2α–dependent transcription of VEGF, PDGF, and EPO. The resulting pseudohypoxic state underlies the syndrome's hypervascular tumor spectrum and provides the mechanistic rationale for HIF-2α inhibition (belzutifan) in select non-surgical RCC, CNS hemangioblastoma, and pNET disease.
A note before you start
A note before you start — this is a synthesized view, not a replacement for your care team.
VHL can look very different from person to person. Some people have many growths over time; others have fewer problems for many years. This page is meant to help you organize questions, understand the usual monitoring plan, and prepare for visits with specialists. ClinicalMatchMate organizes public clinical-trial and condition information in plain language. It does not diagnose, recommend treatment, guarantee eligibility, or replace conversations with a clinician or research team.
VHL can look very different from person to person. Some people have many growths over time; others have fewer problems for many years. This page is meant to help you organize questions, understand the usual monitoring plan, and prepare for visits with specialists. ClinicalMatchMate organizes public clinical-trial and condition information in plain language. It does not diagnose, recommend treatment, guarantee eligibility, or replace conversations with a clinician or research team.
VHL can look very different from person to person. Some people have many growths over time; others have fewer problems for many years. This page is meant to help you organize questions, understand the usual monitoring plan, and prepare for visits with specialists. ClinicalMatchMate organizes public clinical-trial and condition information in plain language. It does not diagnose, recommend treatment, guarantee eligibility, or replace conversations with a clinician or research team.
VHL can look very different from person to person. Some people have many growths over time; others have fewer problems for many years. This page is meant to help you organize questions, understand the usual monitoring plan, and prepare for visits with specialists. ClinicalMatchMate organizes public clinical-trial and condition information in plain language. It does not diagnose, recommend treatment, guarantee eligibility, or replace conversations with a clinician or research team.
VHL can look very different from person to person. Some people have many growths over time; others have fewer problems for many years. This page is meant to help you organize questions, understand the usual monitoring plan, and prepare for visits with specialists. ClinicalMatchMate organizes public clinical-trial and condition information in plain language. It does not diagnose, recommend treatment, guarantee eligibility, or replace conversations with a clinician or research team.
01 / Roadmap
Your VHL plan, mapped out.
VHL care is less about one single treatment and more about staying ahead of problems before they cause harm.
01
Right now
Confirm the diagnosis and gather records.
Ask whether genetic testing has confirmed a change in the VHL geneThe gene that, when altered, causes VHL. Confirming the exact change helps guide your care and your family's testing.. Gather prior imaging, eye-exam results, labs, surgery reports, and family history. Ask which clinician is coordinating your overall plan.
Questions to bring
- Has VHL genetic testing been completed?
- Which VHL gene change was found?
- Do I need a genetic counselor?
- Who is coordinating surveillance across specialties?
02
This month
Build your VHL care team.
Most people with VHL need more than one specialist. Your exact team depends on your findings, but it may include genetics, ophthalmology, neurology/neurosurgery, urology, endocrinology, oncology, ENT/audiology, radiology, and primary care.
Questions to bring
- Which organs need to be checked first?
- Do I need a VHL specialty center or hereditary cancer clinic?
- How will results be shared between specialists?
03
Next few months
Create a surveillance schedule.
SurveillanceChecking for VHL-related growths on a schedule — before they cause symptoms — so problems are caught early. means checking for VHL-related growths before they cause symptoms. A typical plan may include eye exams, blood-pressure checks, lab tests for adrenal tumors, MRI of the brain/spine, abdominal imaging, and hearing-related evaluation. The exact schedule should be personalized by your team.
Questions to bring
- What scans and tests do I need this year?
- How often should each test repeat?
- What symptoms should I report between visits?
04
Long term
Track changes and revisit treatment options.
Many VHL-related growths are watched over time. Some need surgery, focused treatment, or medication. Newer targeted therapy — including belzutifanAn oral medicine that blocks the HIF-2α pathway driving some VHL tumors. An option for certain adults whose tumors don't need immediate surgery. for certain adults — has changed the conversation for some VHL-associated tumors that don't require immediate surgery.
Questions to bring
- Which findings are being watched, and which need treatment?
- What size or symptom change would trigger treatment?
- Are there trials, registries, or natural-history studies worth discussing?
02 / What to monitor
VHL is a multi-system condition.
VHL can involve different organs at different times. Not everyone develops every finding.
Results that matter
Genetic result
VHL gene pathogenic variant, if confirmed
Confirms the inherited condition and helps relatives understand whether they may need testing or surveillance.
AskWhat exact VHL variant was found, and what does it mean for my family?
Eyes
Retinal hemangioblastomas
These can affect vision if not detected and treated early.
AskWhen is my next dilated eye exam?
Brain / spine
CNS hemangioblastomas
Can cause headaches, vomiting, balance problems, weakness, or coordination changes.
AskDo I need brain and spine MRI, and how often?
Kidneys
Renal cysts & clear cell RCC risk
VHL increases risk of kidney cysts and clear cell renal cell carcinoma.
AskAre any kidney lesions present, and what is the monitoring plan?
Adrenal glands
Pheochromocytoma / paraganglioma
Can cause high blood pressure, headaches, sweating, palpitations, or panic-like episodes.
AskDo I need blood or urine metanephrine testing?
Pancreas
Cysts & neuroendocrine tumors
Pancreatic cysts and neuroendocrine tumors can occur in VHL.
AskAre my pancreas findings cysts, neuroendocrine tumors, or something else?
Inner ear
Endolymphatic sac tumors
Can cause hearing loss, tinnitus, dizziness, or balance problems.
AskShould I have audiology testing or inner-ear imaging?
Surveillance dashboard
A general orientation only. Your care team may adjust timing based on your age, symptoms, prior findings, family history, pregnancy plans, and local guidelines.
| Area monitored | Common test or visit | Why it matters | Ask your care team |
|---|---|---|---|
| General symptoms | Annual clinical visit | Reviews headaches, balance, vision, hearing, and blood-pressure symptoms. | Who owns my yearly VHL checklist? |
| Eyes | Dilated eye exam | Looks for retinal hemangioblastomas before vision changes occur. | Should I see a retina specialist familiar with VHL? |
| Brain & spine | MRI brain + total spine | Looks for CNS hemangioblastomas. | Do I need contrast? How are scans compared over time? |
| Abdomen | MRI of kidneys, pancreas, adrenals | Tracks kidney, pancreatic, and adrenal findings. | Which lesions are being measured and followed? |
| Adrenal hormones | Blood pressure + plasma/urine metanephrines | Screens for pheochromocytoma / paraganglioma. | What symptoms should prompt earlier testing? |
| Hearing / balance | Audiology, sometimes internal auditory canal MRI | Looks for hearing changes or inner-ear tumors. | What if I notice tinnitus, vertigo, or sudden hearing change? |
| Mental health & logistics | Psychosocial support, care coordination | VHL can create scan anxiety, family stress, and appointment fatigue. | Are patient navigators or social-work supports available? |
03 / Genetic testing
VHL is inherited in an autosomal dominant pattern.
Autosomal dominantOne altered copy of the gene is enough to cause the condition — and each child has a 50% chance of inheriting it. means a person with a disease-causing VHL gene change has a 50% chance of passing it to each child. Some people are the first in their family to have VHL, because of a new gene change.
Confirmatory testing
Blood or saliva test
May identify a disease-causing change in the VHL gene.
AskHas my diagnosis been confirmed by molecular testing?
Family testing
Test relatives for the known variant
If the family's VHL variant is known, relatives can be tested for that specific change.
AskWhich relatives should be offered testing?
Children
May be discussed in childhood
Testing can be considered early because surveillance may begin in childhood.
AskWhen should children in the family be evaluated?
Negative in a relative
May not need the same surveillance
A relative who didn't inherit the known family variant may not need the same lifelong plan.
AskDoes this result change their screening plan?
Uncertain result
Variant of uncertain significance
Sometimes testing finds a change that doesn't fully answer the question.
AskIs this result clearly disease-causing, or uncertain?
04 / Treatments
Treatment depends on what is growing, where, and the risk.
Some VHL-related tumors are watched closely; others are treated before they cause permanent damage. Decisions balance two goals: preventing serious harm while avoiding unnecessary procedures.
| Situation | Common approach | Why it may be used | Questions to ask |
|---|---|---|---|
| Retinal hemangioblastoma | Laser, cryotherapy, or surgery | Early treatment may protect vision, depending on size and location. | Is this lesion near the optic nerve or threatening vision? |
| CNS hemangioblastoma | Monitoring, neurosurgery, or focused radiation | Symptoms, growth, cysts, and location affect timing. | Is this causing symptoms or pressure? Risks of waiting? |
| Kidney lesions / RCC risk | Surveillance, nephron-sparing surgery, ablation, or systemic therapy | Aims to treat concerning tumors while preserving kidney function. | What size or growth pattern would trigger treatment? |
| Pheochromocytoma / paraganglioma | Endocrine workup and surgery | Hormone-producing tumors can cause dangerous blood-pressure problems. | Do I need medication before surgery? |
| Pancreatic neuroendocrine tumor | Monitoring, surgery, or systemic therapy | Size, growth, symptoms, and spread risk matter. | Is this a cyst, a neuroendocrine tumor, or both? |
| Endolymphatic sac tumor | ENT/audiology evaluation, imaging, possible surgery | Early evaluation may help preserve hearing and balance. | What should I do if hearing changes suddenly? |
| Multiple tumors not needing immediate surgery (adults) | Belzutifan may be considered | Targets the HIF-2α pathway involved in VHL tumor biology. | Am I a candidate? What side effects and monitoring are needed? |
Medication spotlight
Belzutifan
Belzutifan is an oral HIF-2α inhibitorA medicine that blocks a signaling pathway VHL tumors rely on to grow new blood vessels and survive. approved for adults with VHL who need treatment for associated renal cell carcinoma, CNS hemangioblastomas, or pancreatic neuroendocrine tumors that do not require immediate surgery.
This does not mean every person with VHL should take it. It is a treatment option to discuss when the tumor type, timing, risks, and goals fit the indication.
- Which of my tumors, if any, could belzutifan target?
- Do I need surgery now, or is medication an option?
- What blood tests or oxygen monitoring are needed during treatment?
- How would we know if the medication is working?
- What symptoms or side effects should I report?
+ / Care team
Your VHL care team, mapped.
VHL care is shared across specialists. Here's who may be involved and when.
Primary care / VHL coordinator
Keeps the overall surveillance plan organized and helps coordinate referrals.
At diagnosis & yearly planning
Genetic counselor
Explains testing, family risk, and reproductive options.
At diagnosis, before family testing, before pregnancy planning
Ophthalmology / retina
Screens for and manages retinal hemangioblastomas.
Early & regularly — often from childhood for at-risk people
Neurology / neurosurgery
Monitors and treats brain or spinal-cord hemangioblastomas.
When CNS lesions or neurologic symptoms appear
Urology / kidney cancer
Monitors and treats kidney lesions while preserving function.
When kidney cysts or tumors are present
Endocrinology
Manages pheochromocytoma / paraganglioma and hormone issues.
When BP symptoms, lab abnormalities, or adrenal lesions appear
Oncology
Discusses systemic therapy such as belzutifan, and helps evaluate trials.
When treatment beyond surveillance is considered
ENT / audiology
Evaluates hearing, tinnitus, vertigo, and endolymphatic sac tumors.
When hearing/balance symptoms occur, or during surveillance
05 / When to seek care
When to seek care.
If something feels urgent, contact your doctor — or, for emergencies, call your local emergency number.
Call 911 / emergency
- Sudden weakness, numbness, trouble speaking, severe confusion, or seizure
- Severe headache with vomiting, fainting, new trouble walking, or severe balance problems
- Sudden vision loss
- Sudden major hearing loss, especially with severe dizziness or neurologic symptoms
- Chest pain, severe shortness of breath, or fainting
- Very high blood pressure with severe headache, chest pain, or neurologic symptoms
Call your care team promptly
- New or worsening headaches
- New balance problems, dizziness, coordination changes, or limb weakness
- New vision changes, floaters, or eye pain
- New ringing in the ears, hearing loss, vertigo, or ear fullness
- Pounding heartbeat, sweating, severe anxiety-like spells, or BP spikes
- Blood in the urine, new flank pain, or unexplained abdominal pain
- New symptoms after surgery, radiation, or a medication change
Bring up at your next visit
- You're not sure who is coordinating your surveillance
- You're missing older scans or test results
- You want help explaining VHL to family members
- Scan anxiety or appointment burden is affecting your life
- You want to know whether a registry, natural-history study, or trial fits your situation
06 / Research & trials
Research can matter early in VHL.
Not only after standard options run out. Because VHL is rare, research often includes more than drug trials:
Natural-history studies that track how VHL changes over time
Imaging studies seeking better ways to detect or measure tumors
Registries that capture patient experiences and outcomes
Drug trials testing new or existing therapies
Supportive-care studies on stress, resilience, and quality of life
Worth discussing when a tumor is being monitored, is growing but doesn't clearly need immediate surgery, when systemic therapy is on the table, or when you want to contribute to rare-disease research.
07 / Questions
Questions to ask your care team.
Diagnosis & genetics
- Has my VHL diagnosis been confirmed with genetic testing?
- What exact VHL variant was found?
- Should I meet with a genetic counselor?
- Which family members should consider testing?
- Should children in the family be evaluated, and when?
Surveillance
- What organs need to be monitored for me right now?
- What is my annual VHL checklist?
- How often should I have eye exams, MRIs, abdominal imaging, and labs?
- Who compares my new scans with older scans?
- What symptoms should make me contact you before my next visit?
Treatment decisions
- Which findings are safe to watch right now?
- Which findings may need treatment soon?
- What size, growth rate, or symptom change would trigger treatment?
- Are we preventing symptoms, preserving organ function, reducing cancer risk, or all three?
- Should I be seen at a VHL specialty center?
Research & trials
- Are there registries or natural-history studies I should know about?
- Are there trials matching my tumor type or surveillance needs?
- Would a trial change my usual care, or add monitoring on top of it?
- What are the travel, time, cost, and follow-up requirements?
08 / Support & resources
People and places that get it.
Patient organizations, foundations, and references that focus on this condition. Save any of these to keep them on your dashboard.
Educational
VHL Handbook
A lay-language handbook for people living with VHL, families, and medical teams.
Genetic Counseling
NSGC directory
Find a genetic counselor by location and specialty through the National Society of Genetic Counselors.
Educational
NCI PDQ: VHL
Clinician-level information on genetics, screening, manifestations, and management from the National Cancer Institute.
Educational
GeneReviews: VHL
Detailed genetics-focused reference with surveillance and family-testing information.
Educational
MedlinePlus Genetics
A plain-language NIH genetics overview of Von Hippel–Lindau syndrome.
09 / Takeaways
Key takeaways.
- VHL is a rare inherited condition that can cause tumors and cysts in several organs over a person's lifetime.
- The most important first steps are confirming the genetic diagnosis, connecting with genetic counseling, and building a lifelong surveillance plan.
- VHL care often involves multiple specialists, so care coordination matters.
- Some VHL-related findings are watched; others may need surgery, focused treatment, or medication.
- Clinical trials, registries, and natural-history studies may be especially relevant because VHL is rare and treatments are evolving.
Review, sources, and disclaimer
Review, sources & disclaimer.
Medical review
Pending — in editorial & medical review. This page will list the reviewing clinician and review date before publication.
Content version 0.1 · Template rare_genetic
Sources
- Von Hippel-Lindau Disease (PDQ®) — Health Professional Version· government
- Von Hippel-Lindau Syndrome — GeneReviews· other
- Von Hippel-Lindau syndrome — MedlinePlus Genetics· patient education
- FDA approval of Welireg (belzutifan) for VHL-associated tumors· government
- Guidelines for surveillance of patients with Von Hippel-Lindau disease· guideline
- VHL Handbook & Resources — VHL Alliance· patient education
This page is educational, not medical advice. Talk with your care team about decisions that apply to you. If something feels urgent, contact your doctor — or, for emergencies, call your local emergency number.