von Hippel-Lindau Disease (VHL)
People with von Hippel-Lindau disease (VHL) have an increased risk of having cancerous and noncancerous tumors that can develop throughout their bodies. Healthcare providers may call this disorder von Hippel-Lindau syndrome. VHL is a rare genetic disorder that happens if you inherit a specific genetic mutation. Treatment is surgery to remove tumors.
von Hippel-Lindau disease (VHL) is a rare genetic disorder that significantly increases the chance that you’ll have certain kinds of cancerous (malignant) tumors and noncancerous (benign) tumors and cysts. Healthcare providers may call this condition von Hippel-Lindau syndrome.
The condition happens if you inherit a specific genetic mutation (change). Research shows that by the time they’re 65 years old, 97% of people who carry this genetic mutation will develop tumors and other conditions that VHL causes. Surgery is the most common treatment for conditions that von Hippel-Landau disease may cause.
This condition causes tumors throughout your body, which means you may have several different symptoms depending on where tumors develop and the tumors’ sizes. Symptoms may include:
- Headaches.
- Hearing loss or tinnitus.
- High blood pressure.
- Loss of balance.
- Loss of muscle strength or coordination.
- Vision issues.
- Vomiting.
von Hippel-Lindau syndrome is an inherited disorder that may happen when one of your biological parents passes on an abnormal version of the VHL gene, a tumor suppressor gene that manages cell growth.
These genes make special proteins that put the brakes on cell growth that may cause cancer. When tumor suppressor genes mutate (change), it’s as if they switch from pressing on the brakes to hitting the gas pedal, suddenly putting cell growth into overdrive.
This disorder follows an autosomal dominant inheritance pattern. That means if you inherit an abnormal VHL gene from one of your biological parents, there’s a 50% chance that you’ll have von Hippel-Lindau disease. That being said, research shows up to 10% of people with VHL don’t have a family history of the disorder.
People with hEDS may have:
- joint hypermobility
- loose, unstable joints that dislocate easily
- joint pain and clicking joints
- extreme tiredness (fatigue)
- skin that bruises easily
- digestive problems, such as heartburn and constipation
- dizziness and an increased heart rate after standing up
- problems with internal organs, such as mitral valve problems or organ prolapse
- problems with bladder control (urinary incontinence)
Currently, there are no tests to confirm whether someone has hEDS.
The diagnosis is made based on a person’s medical history and a physical examination.
Classical EDS (cEDS) is less common than hypermobile EDS and tends to affect the skin more.
People with cEDS may have:
- joint hypermobility
- loose, unstable joints that dislocate easily
- stretchy skin
- fragile skin that can split easily, especially over the forehead, knees, shins and elbows
- smooth, velvety skin that bruises easily
- wounds that are slow to heal and leave wide scars
- hernias and organ prolapse
Vascular EDS (vEDS) is a rare type of EDS and is often considered to be the most serious.
It affects the blood vessels and internal organs, which can cause them to split open and lead to life-threatening bleeding.
People with vEDS may have:
- skin that bruises very easily
- thin skin with visible small blood vessels, particularly on the upper chest and legs
- fragile blood vessels that can bulge or tear, resulting in serious internal bleeding
- a risk of organ problems, such as the bowel tearing, the womb tearing (in late pregnancy) and partial collapse of the lung
- hypermobile fingers and toes, unusual facial features (such as a thin nose and lips, large eyes and small earlobes), varicose veins and delayed wound healing
Kyphoscoliotic EDS (kEDS) is rare.
People with kEDS may have:
- curvature of the spine – this starts in early childhood and often gets worse in the teenage years
- joint hypermobility
- loose, unstable joints that dislocate easily
- weak muscle tone from childhood (hypotonia) – this may cause a delay in sitting and walking, or difficulty walking if symptoms get worse
- fragile eyes that can easily be damaged
- soft, velvety skin that is stretchy, bruises easily and scars
Some people have problems caused by hypermobility, but do not have any of the specific EDS conditions. They may be diagnosed with hypermobility spectrum disorder (HSD), which is treated in the same way as hEDS.
Healthcare providers may suspect you have VHL if you have symptoms of one of the conditions that von Hippel-Lindau disease may cause, like a hemangioblastoma or clear cell renal carcinoma. But genetic testing is the only way to confirm that you have the condition. If anyone in your family has von Hippel-Lindau disease, ask your healthcare provider if genetic testing is right for you.
Treatments vary depending on the type of tumor or cyst that VHL causes. Your healthcare provider will explain your treatment options. Common treatments are:
- Surgery to remove tumors.
- Chemotherapy.
- Radiation therapy.
- Targeted therapy, including peptide receptor radionuclide therapy (PPRT) and tyrosine kinase inhibitors (TKI).
- Immunotherapy.
- Hormone therapy.
If you have this condition, you may have regular tests to monitor for signs of specific kinds of diseases. Finding and treating tumors early on may reduce the impact that von Hippel-Lindau syndrome may have on your life.
No, it can’t. von Hippel-Lindau disease occurs when a biological parent passes a genetic mutation onto their child. If you have a family history of VHL, genetic tests will determine whether you’re carrying the mutation.
While you can’t prevent von Hippel-Lindau disease, it’s helpful to know your risk and understand how VHL may affect you. If you know you’re at risk, healthcare providers can watch for signs of VHL-related tumors and move quickly to remove those tumors.
If you carry the VHL gene and plan to have a baby, a genetic counselor can help you understand the risks of passing the gene to your child.
Living with VHL can mean living with uncertainty. If you inherit the genetic mutation that causes von Hippel-Lindau disease, there’s a 50% chance you’ll have the condition. If you do, there’s a 97% chance you’ll have certain kinds of cancer and other serious illnesses.
But no one can predict exactly how VHL may affect your life. Here are some things you can do that may help you manage those challenges:
- Consider mental health support: One study showed the emotional impact that a VHL diagnosis can have, including anxiety and panic attacks.
- Protect your overall health: Eat a balanced diet of lean protein, whole grains, leafy greens and lots of vegetables. Get some exercise (it may help ease stress) and ask your healthcare team about vaccinations that make sense for you.
You should call your healthcare provider if you experience:
- Changes to your vision or hearing.
- Headaches.
- Nausea or vomiting not caused by other illnesses.
- A sharp increase in blood pressure.
- Sudden difficulty with walking, balance or coordination.
You’ve just learned you have a family history of von Hippel-Lindau disease. Here are some questions you may want to ask your healthcare provider:
- What do the results of my genetic test mean?
- Should other family members have genetic tests?
- How often should I have tests to detect early signs of conditions associated with VHL?
Having this condition increases the chance you’ll have one or more of the following kinds of cancer:
- Clear cell renal carcinoma (ccRCC): This is the most common form of renal cell carcinoma (kidney cancer). Experts estimate 25% to 60% of people with VHL disease have this cancer.
- Pancreatic neuroendocrine tumors (pancreatic NETs): These are rare tumors that start in your pancreas’ endocrine cells. Between 9% and 17% of people with von Hipple-Landau disease develop pancreatic NETS.
- Pheochromocytoma: This is a rare but treatable tumor that starts in your adrenal gland. Pheochromocytomas start as noncancerous tumors but can be cancerous. Between 10% and 20% of people with von Hippel-Lindau disease have pheochromocytomas.
- Broad ligament cystadenomas: This condition affects 10% of females who have von Hippel-Lindau disease. A broad ligament cystadenoma is a tumor that starts near your fallopian tubes.
Hemangioblastomas are the most common noncancerous tumor that may happen if you have von Hippel-Landau disease. A hemangioblastoma is a noncancerous tumor that grows in the blood vessels in your brain, spinal cord or retina.
These tumors don’t spread from where they started (metastasize), but they can grow large enough to affect nearby tissue and cause serious health issues. Hemangioblastomas associated with von Hippel-Landau disease are:
- Retinal hemangioblastoma: This is a type of eye tumor that can cause vision loss. Research shows that 60% of people with von Hippel-Lindau syndrome develop retinal hemangioblastoma.
- Brain stem and cerebellar hemangioblastomas: These are brain tumors that may affect your balance and cause other issues. They may affect 13% to 72% of people with von Hippel Landau disease.
- Spinal cord hemangioblastoma: Between 13% and 50% of people with VHL have this type of hemangioblastoma.
Having von Hippel-Landau disease may also increase your risk of developing the following noncancerous tumors and cysts:
- Epididymal cystadenomas: These tumors affect males. They develop in your epididymis, the small tube-like structure near your testicles that stores sperm. Between 25% and 60% of males with von Hippel Lindau disease develop this type of tumor.
- Endolymphatic sac tumors (ELST): This is a very rare tumor that may develop in your inner ear if you have VHL. Between 10% to 25% of people with von Hippel-Lindau disease have this condition.
- Cysts: Cysts are growths filled with fluid. People with VHL may have cysts on or in their kidneys and pancreas.
This is a rare disorder that affects 1 in 36,000 people. Most people with VHL develop symptoms in their mid-20s.
EDS can be inherited, but it happen by chance in someone without a family history of the condition.
The 2 main ways EDS is inherited are:
- autosomal dominant inheritance (hypermobile, classical and vascular EDS) – the faulty gene that causes EDS is passed on by 1 parent and there’s a 1 in 2 chance of each of their children developing the condition
- autosomal recessive inheritance (kyphoscoliotic EDS) – the faulty gene is inherited from both parents and there’s a 1 in 4 chance of each of their children developing the condition
A person with EDS can only pass on the same type of EDS to their children.
For example, the children of someone with hypermobile EDS cannot inherit vascular EDS.
The severity of the condition can vary within the same family.
References
- American Society of Clinical Oncology. Von Hippel-Lindau Syndrome (https://www.cancer.net/cancer-types/von-hippel-lindau-syndrome). Updated 7/2020. Accessed 2/12/2024.
- Ge H, Wang H, Cai J, et al. Endolymphatic sac tumor: case report and literature review (https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7398243/). Chin Neurosurg J. 2020 May 9;6:16. Accessed 2/12/2024.
- Gossage L, Eisen T, Maher ER. VHL, the story of a tumour suppressor gene (https://pubmed.ncbi.nlm.nih.gov/25533676/). Nat Rev Cancer. 2015 Jan;15(1):55-64. Accessed 2/12/2024.
- National Institute of Neurological Disorders and Stroke (U.S.). Von Hippel-Lindau Disease (https://www.ninds.nih.gov/health-information/disorders/von-hippel-lindau-disease-vhl) (VHL). Updated 11/28/2023. Accessed 2/12/2024.
- Papadakis GZ, Millo C, Sadowski SM, et al. Epididymal Cystadenomas in von Hippel-Lindau Disease Showing Increased Activity on 68Ga DOTATATE PET/CT (https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5014623/). Clin Nucl Med. 2016 Oct;41(10):781-2. Accessed 2/12/2024.
- Varshney N, Kebede AA, Owusu-Dapaah H, et al. A Review of Von Hippel-Lindau Syndrome (https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5541202/). J KidneyCancer VHL. 2017 Aug 2;4(3):20-29. Accessed 2/12/2024.
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