Von Hippel-Lindau Disease
An inherited condition causing tumors and cysts throughout the body
Quick Facts
- Type: Inherited (genetic) tumor syndrome
- Gene involved: VHL tumor-suppressor gene
- Commonly affected: Eyes, brain, spine, kidneys, adrenal glands
- Key to care: Lifelong screening and early treatment
Overview
Von Hippel-Lindau disease (VHL) is a rare inherited condition in which both benign and cancerous tumors, along with fluid-filled cysts, develop in several organs over a person's lifetime. It is caused by a change in the VHL gene, which normally helps control cell growth. When this gene does not work properly, cells in certain tissues can grow abnormally and form tumors.
The organs most often affected include the retina at the back of the eye, the brain and spinal cord, the kidneys, the adrenal glands, the pancreas, and the inner ear. Because these growths can appear at different ages and locations, people with VHL need lifelong, organized monitoring. Found early, many VHL-related tumors can be treated successfully before they cause lasting harm.
Symptoms
Symptoms vary widely depending on which organs are involved and may not appear until adulthood:
- Vision changes or loss from growths on the retina (retinal hemangioblastomas)
- Headaches, balance problems, or weakness from tumors in the brain or spinal cord
- Episodes of high blood pressure, palpitations, sweating, or anxiety from adrenal tumors (pheochromocytomas)
- Blood in the urine or a flank mass from kidney tumors or cysts
- Hearing loss or ringing in the ears from inner-ear tumors
Some growths cause no symptoms and are found only through screening.
Causes
Von Hippel-Lindau disease is caused by a change (mutation) in the VHL gene, which is a tumor-suppressor gene. This gene normally helps prevent cells from growing out of control. When one copy of the gene is altered, the cells in certain organs are more likely to form tumors and cysts.
The condition is inherited in an autosomal dominant pattern, meaning a child has a 50 percent chance of inheriting the altered gene from an affected parent. In a minority of cases the gene change arises new in a person with no family history. Inheriting the gene does not mean every organ will be affected, but it greatly raises lifelong risk.
Risk Factors
- Having a parent or close relative with von Hippel-Lindau disease
- A confirmed VHL gene change identified by genetic testing
- A personal history of certain VHL-associated tumors, even without a known family history
VHL is not caused by lifestyle, diet, or environmental exposures; it is determined by genetics.
Diagnosis
Diagnosis is based on clinical findings, family history, and genetic testing:
- Genetic testing: A blood test that identifies a change in the VHL gene confirms the diagnosis and allows testing of at-risk relatives.
- Eye examination: Detailed retinal exams to detect retinal hemangioblastomas early.
- Imaging: MRI of the brain and spine, and imaging of the abdomen to check the kidneys, adrenal glands, and pancreas.
- Hearing tests and lab studies: To detect inner-ear tumors and adrenal hormone-producing tumors.
Treatment
There is no cure for VHL, so care centers on monitoring and treating individual tumors before they cause harm:
- Regular surveillance: Scheduled eye exams, imaging, and lab tests starting in childhood to catch growths early.
- Eye treatments: Laser therapy or other procedures for retinal tumors to protect vision.
- Surgery: Removal of brain, spinal cord, kidney, or adrenal tumors when they grow or cause symptoms, often timed to preserve as much organ function as possible.
- Targeted medication: Newer drugs are available for some VHL-related tumors, such as certain kidney tumors, that may reduce the need for surgery.
Care is best coordinated through a center experienced with VHL.
Prevention
VHL cannot be prevented because it is inherited, but its complications can be greatly reduced with proactive care:
- Follow a structured, lifelong screening schedule for the eyes, brain, spine, and abdomen
- Seek genetic counseling to understand risks and options for family members
- Report new symptoms such as vision changes or headaches promptly
- Have treatment at a center familiar with VHL when possible
When to See a Doctor
If you have a family history of von Hippel-Lindau disease, talk with a doctor about genetic counseling and screening, even if you feel well. If you have VHL, contact your care team promptly for new or changing symptoms such as:
- Vision changes or loss
- Persistent headaches, dizziness, or balance problems
- Episodes of pounding heartbeat, sweating, and high blood pressure
- Blood in the urine or new flank pain
Frequently Asked Questions
Is von Hippel-Lindau disease hereditary?
Yes. It is inherited in an autosomal dominant pattern, so a child of an affected parent has a 50 percent chance of inheriting the altered VHL gene. Genetic testing can confirm whether a person carries it.
Are VHL tumors cancerous?
Many VHL-related growths are benign, such as retinal and brain hemangioblastomas, but some can be cancerous, particularly certain kidney tumors. This is why regular monitoring and early treatment are so important.
Can von Hippel-Lindau disease be cured?
There is no cure, but the condition is manageable with lifelong screening and timely treatment of individual tumors. Catching growths early often allows them to be treated before they cause serious harm.
What screening do people with VHL need?
Screening typically includes regular eye exams, MRI scans of the brain and spine, abdominal imaging of the kidneys and adrenal glands, hearing tests, and blood or urine tests for adrenal tumors, often starting in childhood.
Should family members be tested for VHL?
Yes, at-risk relatives are usually offered genetic counseling and testing. Identifying who carries the gene lets those affected start screening early and lets others avoid unnecessary monitoring.
References
- National Cancer Institute (NCI). Von Hippel-Lindau Syndrome.
- National Institute of Neurological Disorders and Stroke (NINDS). Von Hippel-Lindau Disease.
- MedlinePlus, U.S. National Library of Medicine. Von Hippel-Lindau syndrome.
- Genetic and Rare Diseases Information Center (GARD). Von Hippel-Lindau disease.