Von Hippel-LIndau disease (VHL) is a rare and inherited condition where abnormal tumor growths occur in various parts of the body. Different types of tumors may grow in different areas but commonly occur where a large number of blood vessels are present. The areas where VHL tumors commonly occur include the brain, central nervous system, the retina in the eyes, kidneys, adrenal glands, pancreas, and other areas of the nervous system. The treatment for VHL varies depending on the type of tumor, the size of the growth, and its location.
Approximately 60-80% of patients will develop hemangioblastomas, which are benign tumors that occur in nests of blood vessels in the body. These occur in the brain, brain stem, and the spinal cord (central nervous system). Patients develop these tumors as young as age 9 but commonly average 33 years of age before development occurs. Though benign, these tumors can cause problems due to the stress and pressure they put on the nervous system. Treatment for these types of tumors includes removal through surgery or specific types of focused radiation therapy. Generally these tumors grow slowly and are monitored, but the faster growing tumors are removed or treated as soon as possible.
The development of tumors in the retina of the eyes commonly occurs in about 60% of patients who suffer from VHL. The average age when these tumors occur is around 25 years of age but they have been known to occur in children as young as 1 year old. The treatment for this type of tumor is done as soon as possible, as early detection and treatment is critical to prevent vision loss. Tumors present in critical areas of the eye are not treated because the potential for damaging the eye is too great. Laser photocoagulation, cryotherapy, or surgical treatments can all be used to treat tumors located on the outer area of the retina.
About 40% of VHL patients may develop kidney cancer as a result of this disease. It may occur as a single tumor in one kidney or even multiple tumors in both kidneys. Early detection is the best treatment for these types of tumors and any suspicious growths of the kidney are removed when they exceed the size of 3 centimeters or are observed to be growing rapidly.
Thanks to advancements, treatment no longer requires the removal of the kidneys in patients suffering from multiple tumors. Partial nephrectomry, cyroabalation, and radiofrequency ablation can be used to remove the tumors, or a single tumor, safely while sparing the kidney. Should the cancer spread to other parts of the body, it is more difficult to treat. New therapies as well as the existing treatments of chemotherapy and immunotherapy can be used to stop the progression of the spreading kidney cancer.
Pheochromocytoma is used to refer to tumors that occur either just outside or inside of the adrenal glands. These types of tumors are more likely to occur in more than one location in or near the adrenal glands, and develop in about 10-15% of patients with VHL. This condition also only occurs in patients with VHL type II. The resulting tumors are rarely malignant, but if not removed can lead to death due to tumors causing the production of certain chemicals in the body and their reaction with high blood pressure as a result of other factors.
The typically treatment for pheochromocytoma is surgery. Special blood pressure medications are given for up to three weeks before the surgery can take place in order to make sure that blood pressure does not cause problems. Surgery may be laparoscopic or open surgery, depending on the situation. Sometimes the removal of the adrenal gland(s) is required if the problem is severe enough. Patients whose adrenal glands have been removed are prescribed lifelong treatments of the proper hormones that their body no longer produces on its own.
Of the three types of pancreatic developments due to VHL, cysts and cystadenomas occur in 20-50% of VHL patients, while pancreatic tumors occur in about 15% of VHL patients. The typical age for these three manifestations of VHL is about 35 years. Though none of these manifestations of the disease are malignant, they can be serious health risks as the tumors can spread to other parts of the body, while the cysts can enlarge and cause problems with the pancreas or other organs.
Treatment of these types of cysts and tumors is rare as they don’t always require any treatment. In situations where cysts become too large, the fluids can be evacuated. The pancreatic tumors associated with VHL should be monitored as they are known to spread. Should a tumor grow larger than 3 centimeters, surgery should be used to remove it.