Von Hippel-Lindau disease is a rare, hereditary condition where abnormal tumors grow in the body. Specifically, the tumors are made up of blood vessels that do not belong in the system. The nest or group of blood capillaries is called "hemangioblastomas". As a rule, they are benign but for patients suffering with VHL, they are more prone to incidences of cancer, particularly kidney cancer. Because the vessels are abnormal or diseased, the condition is referred to as "angiomatosis".
Von Hippel-Lindau disease is characterized by symptoms dictated by the size of the tumors and the location of the tumors within the central nervous system. For example, tumors have occurred in the brain, around the retina, on the spinal cord, and in the adrenal glands. Various problems may include visual impairment, headaches, high blood pressure. dizziness and issues with balance, and weakness in the arms and legs. In addition, cysts and other types of tumors may appear around the nest of blood vessels, which in turn can cause the same symptoms. And these "other" tumors may be either benign or cancerous.
Like the symptoms, treatment of von Hippel-Lindau disease will depend on the size of the tumors and the location. Pressure may be present on the part of the body where the tumors reside. The delicate issue of treating the growths is the fine line that exists between treating when they are small enough, as to not cause permanent damage, but at the same time when symptoms present themselves. In many instances, the tumors must be surgically removed, although there have been cases where irradiation has been used. Irradiation is exposing the area to radiation.
Von Hippel-Lindau disease research is actively pursued and in fact, many clinical trial research studies are being conducted. An example of one study completed in 2007, and sponsored by the National Eye Institute, was to determine whether the drug "ranibizumab" could inhibit or reduce the growth of the blood vessel tumors in the back of the eye, commonly found on the retina. Ranibizumab has been used with some success in the treatment of Macular Degeneration. Consequently, eye injections were given over a six month period to patients with Von Hippel-Lindau Syndrome.
Since VHL is a genetic mutation and although it is considered rare, von Hippel-Lindau disease research has determined that as many as one in thirty-two thousand people around the world suffer from the syndrome. It is also believed that new mutations are developing and that the disease is not indigenous to one ethnicity or another. It affects all ethnic groups. It is believed that most people will begin to experience symptoms or problems related to the disease by the time they are in their late teens and early twenties.
Additionally, von Hippel-Lindau disease research helps the medical community determine which types of equipment are required for the diagnosis and treatment of the disease. For example, how accurate are MRIs and CAT scans at finding the tumors and how soon can they be detected? The research also helps to eradicate invasive treatment. Ideally, patients should be treated when the tumors are small, and optimum care would be in the form of medicines rather than surgeries.
Lastly, von Hippel-Lindau disease research helps to remove discrimination in the medical field and within insurance companies. If patients are denied insurance based on pre-existing conditions or based on this specific disease alone, then research can help to remove these barriers. In relation to the medical field, there is much controversy in whether DNA should be modified or altered to create a perfect DNA. Proponents against this have voiced their opinions using von Hippel-Lindau disease as an example.
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