Von Hippel-Lindau Disease
Also known as: Hippel-Lindau disease, Von Hippel-Lindau syndrome, VHL.
What is Von Hippel-Lindau disease?
Von Hippel-Lindau disease is a rare inherited disorder that causes non cancerous cysts and tumors and/or cancerous tumors to grow in various organs of the body. Frequently these include the development of retinal (back of the eye) and central nervous system (brain and spinal cord) hemangioblastomas (blood vessel tumors), pheochromocytomas (tumors of the adrenal glands found at the top of each kidney), cysts and cancers in the kidneys, and pancreas and benign (non cancerous) cystic tumors of the epididymis (in boys) and broad ligament (in girls).
What causes Von Hippel-Lindau disease?
Von Hippel-Lindau disease is almost always caused by a genetic mutation in a specific gene on chromosome 3. It is usually inherited from a parent who has the disease but may result from a new mutation (change) that occurs in the mother’s egg or fathers sperm. A few children with VHL have what is called a “ genetic mosaic” where one set of cells carries normal genes and the other population of of cells carries the genetic abnormality.
What are the symptoms of Von Hippel-Lindau disease?
Symptoms of Von Hippel-Lindau disease vary based on what part of the body is affected. Frequently appearing between 10-30 years of age, they can include aches, pains, lumps or a swelling that is unexplained, headaches, vomiting, vision loss, ringing in the ears or dizziness, abdominal pain, increases in blood pressure, weakness, loss of coordination and other symptoms.
What are Von Hippel-Lindau disease care options?
Treatment depends on the type of growth, its location and size. In general growths are only treated when they cause symptoms, however in the brain they may be treated before they cause symptoms. Some children with Von Hippel-Lindau disease require no treatment, in others radiation. cryotherapy, laser therapy, surgery, immunotherapy. chemotherapy and other treatments may be used to shrink or remove the tumors.
Reviewed by: Jack Wolfsdorf MD.
This page was last updated on: September 09, 2020 11:28 AM