Von Hippel-Lindau, abbreviated VHL, is one of more than 7000 known inherited disorders. Tumors will develop in one or more parts of the body. Many of these tumors involve the abnormal growth of blood vessels in different organs of the body.
While blood vessels normally branch out like trees, in people with VHL little knots of blood capillaries sometimes occur in the brain, spinal cord, or retina. These little knots are called angiomas, or hemangioblastomas. In other parts of the body the tumors of VHL are called by other names.
These tumors themselves may cause problems, or problems may develop around them. For this reason they need to be carefully monitored by your medical team.
VHL is different in every patient. Even in the same family, people may show only one or several features of VHL. Since it is impossible to predict exactly which one or more manifestations of VHL each person will have, it is important to continue to check for all the possibilities throughout a person’s lifetime.
Dr. Eugen von Hippel, a German ophthalmologist, described the angiomas in the eye in 1893-1911. His name was originally used only in association with VHL in the retina.
Dr. Arvid Lindau, a Swedish pathologist, first described the angiomas of the cerebellum and spine in 1926. His description included a systematic compilation of all other published patients, including those of von Hippel, and described changes in different abdominal organs. We now understand that both these physicians were describing different aspects of the same disease.
Von Hippel-Lindau (VHL) is different from most other conditions in that it has no single primary symptom, that it does not occur exclusively in one organ of the body, and that it does not always occur in a particular age group. Generally the condition is hereditary, but the health problems of the involved families and the specialties of the attending physicians are so varied that the common cause may not be recognized. In addition, the appearance and severity of the condition are so variable that many members of the family may have only some relatively harmless issue, while others may have a serious illness.
With careful monitoring, early detection, and appropriate treatment, the most harmful consequences of this gene can be greatly reduced, or in some cases even prevented entirely.
Researchers are also finding that a significant number of new cases are occurring. As many as 20 percent of the families seen at centers around the world are the first in their family ever to have VHL. We do not yet understand why this is happening, but it underscores the importance of the need for careful differential diagnosis in all people, not just those in families known to be at risk for VHL.
I am not a doctor or an expert by any means. Please visit VHL Family Alliance website for more information. www.VHL.org