What is VHL?

What does it have to do with Pheochromocytoma?

• Von Hippel-Lindau, abbreviated VHL, is a genetic condition involving the abnormal growth of blood vessels in some parts of the body which are particularly rich in blood vessels.
• While blood vessels normally grow like trees, people with VHL sometimes develop "little knots of capillaries" which occur in some bodily areas. These "little knots" are called angiomas. An angioma is a tumor composed chiefly of blood vessels or lymph vessels. These angiomas are sometimes referred to as hemangioblastomas.
• These angiomas may cause problems, and problems can develop around them. For this reason they need to be carefully monitored by the medical team.
• The disease can be different in every patient. Even in the same family, people may show only one, or several of the symptoms of VHL. Since it is impossible to predict which one or more symptoms of VHL each person will have, it is important to check for all the possibilities.
• Pheochromocytoma is very common in some families, while renal cell carcinoma is very common in other families. Individuals in a family may differ as to which of the family tumor types they express.

How VHL was named:

Dr. Eugen von Hippel described the angiomas in the eye in 1904. His name is usually associated with VHL in the retina, though even in his original case study his patients had tumors in places other than the eye.

Dr. Arvid Lindau described the angiomas of the cerebellum and spine in 1926. His name is usually associated with occurrence of VHL in the central nervous system. 

Types of Angiomas:

The angioma may occur in a delicate place where the pressure it exerts may cause symptoms. Angiomas in the brain or spinal cord, for example, may press on nerve or brain tissue and cause symptoms such as headaches.

As the angioma grows, the walls of the blood vessels may weaken and some blood leakage may occur, causing damage to surrounding tissues. Blood leakage from angiomas in the retina can interfere with vision. Early detection and careful monitoring of the eye are very important to maintain healthy vision.

Cysts may also grow around angiomas. Cysts are fluid-filled sacs which may exert pressure or create blockages which can cause symptoms. Some male patients experience tumors in the scrotal sacs. These tumors are almost always benign, but should be examined by a urologist.

Cysts and tumors may also occur in the kidney, pancreas, liver, or adrenal glands. Symptoms here may include high blood pressure. Some of these tumors are benign, while others are cancerous. Early detection and careful monitoring are particularly important for these organ systems, usually with CT, MRI, or ultrasound scanning yearly.

How Do People get VHL?

Von Hippel-Lindau is a genetically transmitted condition. It is caused by a dominant gene. Even in people who have this gene, however, there is a wide variation in the date of onset of the disease, the organ system in which the problem occurs, or the severity of the involvement. As stated before, every person is different

Early Detection is Important:

Because VHL varies so widely, there is not a consistent set of symptoms in each person. Each possible evidence of the disease has its own diagnostic evaluation.

If someone has a family history of VHL, it is important to begin screening early, before any symptoms occur. The doctor should be consulted about the best time to begin screening, and the right schedule for return visits. It is generally recommended to begin regular screening at age six, or even earlier.

One clear screening does not necessarily mean there is no VHL present. The serious issues may occur for the first time later in life. The definitive test for VHL is DNA testing.  Using DNA testing, people with no symptoms have been found to have a change in the VHL gene past age 80.  Even though they themselves have no symptoms, their children were still at risk for VHL.

Depending on the outcome of screening, the doctor will determine what particular symptoms need to be followed closely. Certainly any vomiting, headaches, balance problems, or persistent pain lasting more than 1 to2 days and which stays in one place, should be checked with a doctor.

Once VHL has been diagnosed in any one part of the body, it is important to undergo a full screening for other possible evidences of the disease in other parts of the body, and to return for additional screening on the schedule recommended by the medical team.

VHL Pheochromocytoma: Surgery after adequate blocking with medication. Special caution is warranted during surgical procedures of any type, and during pregnancy and delivery. There is currently some debate over the wisdom of leaving in place pheos which do not appear to be active.

With early detection and treatment, there is more hope today for families with von Hippel-Lindau disease than ever before. Research on VHL and related diseases has led to better methods of diagnosing and treating it.

Bibliography:

• The VHL Alliance

• Questions answered by VHL Medical Personnel

• UCSF-Stanford University Medical Library

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