Our von Hippel-Lindau Program, one of Stanford Health Care’s Neurogenetic Cancer Programs, brings together specialists from across Stanford Health Care to match your unique needs. This approach ensures you receive coordinated, personalized care and support to help you manage this complex condition.
What is von Hippel-Lindau syndrome?
Von Hippel-Lindau syndrome (VHL) is a rare genetic disorder that causes an increased risk of certain kinds of cancerous (malignant) and noncancerous (benign) tumors. Two eye doctors—von Hippel in Germany and Lindau in Sweden—were the first to publish descriptions of tumors in patients' eyes and brains, hallmarks of von Hippel-Lindau syndrome. In the 1960s, the disease was named VHL, von Hippel-Lindau, to recognize their contributions to characterizing the disease.
What causes von Hippel-Lindau syndrome?
VHL is caused by a change (mutation) in the VHL gene. This gene codes for a protein that helps regulate cell division. When the VHL protein doesn't work properly, it can lead to uncontrolled cell growth and tumors. In the U.S., VHL syndrome affects about one in 30,000 people.
Usually, people with VHL inherit the mutated gene from one of their parents. VHL inheritance follows an autosomal dominant pattern, meaning that a parent has a 50% chance of passing the gene to their child.
But about 10% to 20% of cases have no family history. These cases occur due to a random mutation in the VHL gene very early in development. A mutation in the VHL gene increases your risk of developing certain types of tumors.
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Understanding Von Hippel-Lindau Syndrome
Symptoms of Von Hippel-Lindau Syndrome
Tumors associated with VHL most commonly appear between ages 18 and 30, although they can occur at any age. The most common type of tumor is a hemangioblastoma. Hemangioblastomas are noncancerous tumors made up of newly formed blood vessels. Usually, they occur in the eye, brain, and spinal cord. About half of people with VHL develop hemangioblastomas in the retina, the layer of eye tissue that senses light.
Hemangioblastomas can cause a range of symptoms, depending on their location. Hemangioblastomas in the eye can lead to glaucoma or blindness, while those in the brain and spinal cord can cause:
Noncancerous cysts and tumors can also develop in the kidneys, pancreas, and genital tract, but they rarely cause symptoms.
People with VHL also have a higher risk of developing adrenal gland tumors called pheochromocytomas and related tumors called paragangliomas. Paragangliomas are made of adrenal gland tissue but are located outside the adrenal gland, usually in the head and neck. Your adrenal glands produce hormones that control many processes in your body. Pheochromocytomas and paragangliomas can cause the glands to overproduce certain hormones, which can lead to symptoms such as:
Most pheochromocytomas and paragangliomas are noncancerous, but some can be cancerous.
Other types of cancerous tumors associated with VHL include:
- Endolymphatic sac tumors in the inner ear, often on both sides. These tumors can be locally aggressive and cause ringing in the ears (tinnitus), facial weakness, and hearing loss. They do not spread to other areas of the body.
- Pancreatic neuroendocrine tumors, a rare type of pancreatic cancer that forms in the pancreas’ hormone-producing cells. These tumors can cause a range of symptoms depending on the type of hormone the affected cells produce. High-grade pancreatic neuroendocrine tumors can spread to other parts of the body.
- Renal cell carcinoma, a type of kidney cancer that can spread to other parts of the body.
Von Hippel-Lindau Syndrome Risk Factors
You are at higher risk of VHL if you have a parent or family member who has the disorder.
If you have a family member with VHL, your doctor may recommend genetic testing. This test can determine if you also have the mutation that causes VHL, even if you do not have symptoms. Our genetic counselors can also help you understand the risk of passing on the condition to a child if you are planning a pregnancy.
Diagnostic Tests for Von-Hippel Lindau Syndrome
Genetic testing is the main test for confirming a diagnosis of VHL. Your doctor may suspect VHL and recommend genetic testing based on your family history or the presence of one or more tumors.
Tests that can help your doctor detect VHL-associated tumors include:
- Fundoscopy to detect hemangioblastomas of the eye
- Hearing tests to evaluate hearing loss associated with endolymphatic sac tumors
- Imaging tests, such as MRI, CT scan, and ultrasound tests, to look for tumors in your brain, spinal cord, and other areas of your body
- Laboratory tests to identify abnormal levels of hormones or other substances in your blood or urine
If your tests identify a tumor, you may need a biopsy. During this procedure, your doctor collects a small amount of tissue. A pathologist examines the tissue under a microscope to determine what type of tumor it is and whether it is cancerous.
Screening for Von Hippel-Lindau Syndrome
Early detection of VHL through routine screening (active surveillance) can help identify tumors early and reduce your risk of complications. The VHL Alliance recommends active surveillance according to the following schedule:
- Dilated eye exam every six to 12 months starting before age 1 to check for retinal hemangioblastomas
- Blood pressure and pulse measurements every year starting at age 2 to detect pheochromocytomas and paragangliomas
- Annual bloodwork every year starting at age 5 to screen for pheochromocytomas and paragangliomas
- Audiology evaluation every two to three years starting at age 11 to detect early hearing problems
- MRI of the brain and spinal cord every two years starting at age 11
- MRI of the inner ear once at age 15 to detect endolymphatic sac tumors
- MRI of the abdomen every one or two years starting at age 15
Von Hippel-Lindau Syndrome (VHL)
Our doctors provide routine screening to identify VHL-related tumors early. You receive complete, multispecialty treatment using the latest technology.
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