What is Von Hippel Lindau Disease?

Von Hippel Lindau disease is an inherited mutation of the von Hippel Lindau gene, which is a protein in the body’s cells. It can affect several different parts of the body and cause several types of problems.

The disease was first described at the beginning of the 20th century by Eugen von Hippel and Arvid Lindau.

The mutation causes the cells to lose their ability to process information properly, and they act as if they are starved of oxygen. This makes other cells around the affected cells produce abnormally high numbers of blood vessels. Tumors and cysts may then form in those areas of the body.
The eyes, lower part of the brain, spine, pancreas, adrenal glands and kidney are affected most often. While most of these tumors are benign (not cancer), they may grow and cause damage to organs. VHL also can cause malignant (cancer) tumors in the kidney or pancreas.

What about it?

Your body has two adrenal glands, one on top of each kidney. Each gland 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.

A pheochromocytoma is a tumor that starts in the adrenal medulla and causes it to make too many catecholamines, particularly normetanephrine (a breakdown product of norepinephrine). About 10% to 15% of people with VHL II have pheochromocytomas in one or more areas of the body.

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.

Key facts :

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.

Kidney cancer affects up to 40% of people with von Hippel Lindau disease and is the most common cause of disease-related death in people with VHL. Kidney cancer can start as a single tumor in one kidney or as multiple tumors in both kidneys. The key to treatment is early detection, which can be achieved with CT (computed axial tomography) scans at regular intervals.

Up to 60% of people with von Hippel Lindau disease have retinal hemangioblastomas, 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.

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 von Hippel Lindau disease. 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 3 centimeters (slightly more than 1 inch). The average age for people with VHL to develop pancreatic tumors or cysts is 35.

There are two major categories of VHL: type 1 and type 2. The main difference is that people with Type 1 disease rarely develop pheochromocytomas.
Von Hippel Lindau disease is a genetic condition that 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.
The experts in ACH 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 ACH, we see more patients with von Hippel Lindau disease 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 care center by the national VHL Family 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.