Both males and females of all ethnic backgrounds are affected by von Hippel-Lindau disease. It is estimated to occur in 1 individual per 36,000 people. The average age at diagnosis is 26 years.
Symptoms
Different types of tumors may develop in von Hippel-Lindau disease:
- Eye tumors – called retinal hemangioblastomas (masses of tangled blood vessels), they are not cancerous but may cause problems in the eye such as vision loss and increased eye pressure (glaucoma).
- Brain tumors – called hemangioblastomas (masses of tangled blood vessels), they are not cancerous but may cause neurological symptoms (such as difficulty walking) because of the pressure they put on parts of the brain.
- Kidney tumors – called renal cysts, they have a great tendency to become cancerous. This type of cancer, called renal cell carcinoma, is the leading cause of death for people with von Hippel-Lindau disease.
- Adrenal gland tumors – called pheochromocytomas, they are not usually cancerous, but may cause excess adrenaline to be secreted.
- Other tumors such as pancreatic tumors, which are not usually cancerous, but occasionally a cancerous tumor may develop.
Diagnosis
Since many different types of tumors may develop in von Hippel-Lindau disease, there are three criteria that can be used for diagnosis:
- More than one tumor in the brain or eye, or
- A single tumor in the brain or eye plus one elsewhere in the body, such as in the pancreas, kidney, liver, or adrenal gland, or
- Definite family history of von Hippel-Lindau disease plus any one of the above tumors.
Treatment
Medical care for people with von Hippel-Lindau disease depends on which tumors they have. Many tumors can be removed by surgery; some do not need to be removed unless they are causing symptoms (for example, a brain tumor pressing on part of the brain). Individuals with von Hippel-Lindau need to have complete physical examinations regularly, including magnetic resonance imaging (MRI) or computed tomography (CT) scans of the brain, abdomen, and kidneys to watch for new tumors. Eye examinations should also be done regularly, since eye tumors may develop.
Close watch should be kept over any kidney cysts. These may be removed surgically to reduce the risk of developing kidney cancer. The risk of someone with von Hippel-Lindau disease developing kidney cancer by age 60 is 70%. The good news is that if cancer does not develop by then, it will most likely not develop at all.
Genetic testing can also be helpful to identify family members at risk of developing von Hippel-Lindau disease. The disease is inherited in autosomal dominant fashion, meaning only one defective gene is needed for the disease to develop. Children of an affected person each have a 50% chance of developing the disease.
Information for this article was taken from:
Evans, J. P. (2002). von Hippel-Lindau disease. eMedicine, accessed at http://www.emedicine.com/ped/topic2417.htm
