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When healthy, the von Hippel-Lindau gene makes a protein that helps control cell growth. When the gene mutates, it does not produce healthy copies of that protein. Cells act as if they are starved of oxygen. This causes the body to produce abnormally high numbers of blood vessels around the affected cells. Tumors and cysts may then form in those areas.
According to the National Institutes of Health, one in every 36,000 people in the United States is affected by the disease. Most cases are passed down from parent to child. A parent with von Hippel-Lindau disease has a 50% chance of passing the disease on to his or her children. Some VHL cases are not inherited. They are new mutations that develop before the patient is born.
von Hippel-Lindau types and tumors
There are two major categories of VHL: type 1 and type 2. People with type 1 disease rarely develop a tumor known as pheochromocytoma. People with type 2 VHL develop it 10-15% of the time.
Tumors caused by VHL appear most often in the eyes, ears, lower part of the brain, spine, pancreas, adrenal glands and kidney. Most of these tumors are benign (not cancer), meaning they do not spread to other parts of the body. Benign tumors can still grow and cause damage to organs. VHL also can cause malignant (cancer) tumors in the kidney or pancreas that damage nearby tissue and can spread.
The specific types of tumors caused by VHL include the following:
Endolymphatic sac tumors
About 10% of VHL patients develop endolymphatic sac tumors. These are benign growths that occur in a tube that runs from the inner ear to the skull. They can cause hearing loss, balance problems and tinnitus.
Between 60% and 80% of patients with VHL develop hemangioblastomas, a type of benign tumor, in the cerebellum (part of the brain), the spinal cord or the brain stem. The average age for developing hemangioblastomas is 33, but they have been found in patients as young as 9. Although these are benign tumors, they can cause problems in brain or spinal cord function because of their size, number or location in the nervous system.
Up to 60% of people with VHL develop retinal hemangioblastoma, a type of tumor that starts in the retina, a part of the eye that helps you see. The median age for people with VHL to develop a retinal hemangioblastomas is 25, although they can occur as early as 1 year. They can grow in both eyes or multiple sites within the same eye. Because tumors can occur when a person with VHL is young, it is essential that eye examinations start as early as possible, so appropriate treatment can be given.
About 40% of people with VHL disease develop renal cell carcinoma, the most common type of kidney cancer. This is also the most common cause of disease-related death in people with VHL. Renal cell carcinoma can start as a single tumor in one kidney or as multiple tumors in both kidneys. Learn more about kidney cancer.
Pancreas tumors and cysts
Between 20% and 50% of people with VHL develop cysts or serous cystadenomas in the pancreas. These cysts are benign and usually do not cause problems. Sometimes they grow large and press on surrounding pancreatic tissue or other organs in the body, causing blockage of the pancreas, pain or problems with other organs.
Pancreatic neuroendocrine tumors are found in 15% of patients with VHL. They often do not have symptoms. However, they may behave like true cancers and may spread to other organs in the body. Neuroendocrine tumors usually spread only if they grow larger than three centimeters (slightly more than one inch). The average age for people with VHL to develop pancreatic tumors or cysts is 35. Learn more about pancreatic neuroendocrine tumors.
Pheochromocytoma is a tumor of the adrenal glands.
The body has two adrenal glands, one on top of each kidney. Each has two parts:
- The cortex, or outer part, makes hormones that help maintain blood pressure and salt balance.
- The medulla, or inner part, is made up of nerve cells and is a source of catecholamines, hormones that play a part in the body’s response to stress.
Pheochromocytoma starts in the adrenal medulla and causes it to make too many catecholamines. This can cause symptoms like high blood pressure, a rapid heartbeat and more.
Sometimes a catecholamine-producing tumor starts in nerve cells located outside the adrenal glands. These are called paragangliomas. However, they often are referred to as pheochromocytomas.
Although a pheochromocytoma is a tumor, it is rarely malignant (cancer) in von Hippel-Lindau disease, meaning it is unlikely to spread to other places in the body. If found early, pheochromocytomas are not difficult to treat. However, if not treated, they may cause dangerously high blood pressure during physical stressors such as accidents, surgery or childbirth.
About 10% to 15% of people with VHL type 2 have pheochromocytomas in one or more areas of the body.
von Hippel-Lindau Disease Risk Factors
A risk factor is anything that increases a person’s chances of developing a disease. As a genetic disease, having a parent with VHL is the primary risk factor. A person with a parent with VHL has a 50% chance of inheriting the disease.
Learn more about von Hippel-Lindau Disease:
- von Hippel-Lindau Disease symptoms
- von Hippel-Lindau Disease diagnosis
- von Hippel-Lindau Disease treatment
As a genetic condition, von Hippel,Lindau disease runs in families. If you have von Hippel-Lindau disease, or if you have a family history of the disease, we recommend genetic counseling. Visit our genetic testing page to learn more.
Why choose MD Anderson for von Hippel-Lindau disease treatment?
The experts in MD Anderson's Genitourinary Cancer Center provide highly specialized, customized genetic testing, diagnosis, screening and treatment for each patient and family with von Hippel-Lindau disease.
This team of highly focused physicians, which has a high degree of expertise in the complexities of the disease, personalizes your care to ensure the most advanced therapies with the least impact on your body.
At MD Anderson, we see more patients with VHL than most physicians in the nation, giving us a remarkable level of experience and skill that can make a difference in the success of your treatment and your quality of life. We are designated as a Comprehensive Clinical Care Center by the national VHL Alliance.
It is very important that patients and families living with VHL have their care coordinated by a team of doctors and counselors with expertise in the various aspects of their care. Proper genetic testing, appropriate screening and appropriately timed therapies are all important factors of any treatment plan for VHL.
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