Von Hippel-Lindau Disease

Von Hippel-Lindau disease (VHL) is an inherited genetic disorder characterized by benign and cancerous tumors in parts of the body that have a rich supply of blood vessels. It is a rare condition that develops from the abnormal growth of blood vessels as knots (hemangioblastomas) in the brain, spinal cord and eyes. Cancers may also develop in other parts of the body such as the kidneys, pancreas and adrenal glands.

The symptoms of VHL vary depending on the location of the tumors and the structures they compress. Individuals may experience headaches, dizziness, problems with balance, pain, weakness, difficulties with vision and high blood pressure.

When a patient presents to their doctor with a positive family history or symptoms suggestive of VHL, the doctor will review the symptoms and medical history, and perform a thorough physical examination. If there is a known family history of VHL but no symptoms, periodic screening is advised. A DNA test is recommended which can identify VHL mutation. The doctor will examine the eyes, and order imaging tests (CT or MRI scans) of the body to identify the characteristic tumors or other abnormalities.

Treatment depends on the size and location of the tumors and the symptoms produced. Non-symptomatic tumors are monitored on a periodic basis and treated when the need arises. Tumors that are large or found to be compressing on or potentially endangering important structures such as the brain, spinal cord and eye are removed either by surgery or focused radiation. Kidney cancer is treated by removal of part or the entire kidney, followed by replacing the diseased kidney with a healthy organ.