Von Hippel-Lindau Disease

By: Victoria Summerlin

Von Hippel-Lindau Disease is a rare genetic disorder that causes irregular growth of tumors in different parts of the body. Blood vessels grow out of control and eventually become cluster-like tumors called “hemangioblastomas” which grow in the central nervous system, or specifically called “angiomas” which develop in the eye. These hemangioblastomas may grow in the brain, the retina, and other areas of the central nervous system. Sometimes other tumors develop in the adrenal glands, kidneys, and the pancreas. Eugen Von Hippel first found angiomas in the eye in 1904 and Avrid Lindau first found hemangioblastomas in the cerebellum and spine in 1927. Von Hippel-Lindau Disease influences male and females of all different ethnic backgrounds and will most likely affect 1 in 36,000 people.
Symptoms of Von Hippel-Lindau disease are tumors of the eye, brain, kidney, and adrenal glands. It is also possible that tumors will develop in other parts of the body. The tumors may cause headaches, problems with balance, dizziness, weakness, blurred vision, and high blood pressure. The prognosis is dependent on the patient’s situation with the tumors, but for most Von Hippel-Lindau disease may lead to blindness and permanent brain damage; also death may occur if there are difficulties with brain tumors or tumors in the kidneys.
Von Hippel-Lindau disease is autosomal dominant. It is caused by an abnormal change in a gene on chromosome 3, which functions to produce a protein that acts as a suppressor of tumor growth.
There is no known cure for Von Hippel-Lindau disease, but treatments usually depend on the type of tumors. Surgery is common to remove the tumors before they become dangerous.
There is no way to prevent Von Hippel-Lindau disease, however you can been regularly screened to detect Von Hippel-Lindau disease symptoms and being treated immediately. Also, things you can do daily to reduce the risk for cancer, (which is affiliated with Von Hippel-Lindau disease) are eating lots of fruits and vegetables, not smoking, and limiting alcohol consumption. The only true way to prevent complications involved with Von Hippel-Lindau disease is to know your family medical history.

Sources:
http://healthlibrary.epnet.com
http://www.ninds.nih.gov
http://rarediseases.about.com
http://ghr.nlm.nih.gov