The Mystery of Von Hippel Lindau

By Gabriela

After checking into the hospital, Bravo was tested thoroughly in hopes to find out what was going on inside his body. What nobody expected to find was large and small tumors in his brain. The doctors knew what was wrong, the only task now was to find out the cause of these tumors, and how to cure Bravo.

Before reading this post, please watch the video on this website.

Von Hippel Lindau, more commonly referred to as VHL, is an extremely rare genetic disorder. In fact, VHL is so rare that only 1 in 36,000 people are infected with Von Hippel Lindau.  My father is that one in 36,000 affected by VHL.  So, just what is this rare disease? And why is it called Von Hippel Lindau?

Von Hippel Lindau is defined by Webster’s Dictionary as “a rare genetic disease that is characterized by hemangiomas of the retina and cerebellum and often by cysts or tumors of the liver, pancreas, and kidneys and that is typically inherited as an autosomal dominant trait”. According to the MD Anderson Cancer Center, the most common manifestations of VHL include cysts and tumors of the retina, brain, spinal cord, kidney, pancreas and inner ear.

For patients similar to my father, tumors develop mostly in the brain. These growths, depending on location and size, can affect your every day functions. In my father’s case, loss of motor skills, muscle control, coordination, and blurred vision were all caused by the size and locations of the tumors in the brain. For other VHL patients it is very common for partial or complete loss of vision to occur, as tumors frequently develop on the retina. Headaches are another very common symptom of VHL caused by hemangioblastomas, or tumors in the central nervous system. Though they are not cancerous, hemangioblastomas can cause serious problems inside your body. In my father’s case, a loss of strength, headaches, and obscured vision quickly became a problem.

All this information may lead you to the question, is there a cure for VHL? Unfortunately, there is no one cure for Von Hippel Lindau.  Why do you think this is true? Fortunately, there are surgeons who can remove the hemangioblastomas caused by VHL, or start radiation therapy and then closely monitor progress to ensure that you are recovering well. But, just where does one find a surgeon or hospital that can care for such a rare disease? And how many surgeons or hospitals have knowledge of this disease? If you have VHL caused pheochromocytomas, something that can cause wild fluctuations in blood pressure, surgery is the most common form of treatment. Special blood pressure controlling medications is required to be taken a couple of weeks before the surgery. During this surgery, it is not uncommon for the adrenal gland, a gland that produces hormones necessary for life, to be removed. If this happens, patients must take hormone supplements for the rest of their lives. Why would doctors remove such a vital gland? Patients with tumors on the retina have a crucial time span for detection and treatment, if the tumors on the retina go undetected or untreated for too long, loss of vision is a problem a patient is likely to face. Because the retina is a highly sensitive location, surgeries are suggested over treatment to try and ensure that minimal damage will be done to the patient’s eyes and vision. What forms of treatment would there be for tumors on the retina?

As stated previously, Von Hippel Lindau is a hereditary condition; this means the children of people with this rare genetic disorder are at a high risk for inheriting VHL. What is the percent likelihood of a VHL patient’s child having VHL? VHL is a dominant gene, meaning that if your genes code for VHL, VHL will be expressed in your body. Does this mean you will have tumors in your body? No. VHL may be in your genes, but it does not have to manifest itself to the point where tumors form. Genetic testing is highly suggested for children, such as me or my sister, with parents who have Von Hippel Lindau. One form of testing would be to draw a blood sample and test for the specific strain of VHL that the parent of the child is carrying. Brain and retinal scans are also highly suggested forms of testing. For VHL positive offspring, this will allow patients to see if VHL has manifested itself in the form of tumors throughout the body.

VHL is a scary disease, but the treatment and skilled doctors make it a disease you can live with. Family support groups can play a key role in dealing with VHL, and early treatment and scanning can help to prevent serious VHL related medical issues.

  • Anonymous

    Great post, Gabby! I’m so sorry to hear that your dad has VHL? Was he one of the patients that got this special surgery? I hope he’s okay, but I really liked how you chose to write about something that is very relevant to you, personally. I did some more research on VHL and I found that the average life expectancy for a VHL patient is 49 years. However, with proper care and treatment, a person with VHL can live longer than that. Most patients are diagnosed around 25 years old, but the disease can be diagnosed at any time in a person’s life. It is a pretty serious condition, and like Gabby said, affects the brain, retina and has severe effects on a VHL sufferer.

  • Anonymous

    Great post Gabriela. Did some more research and found that a child of a VHL patient has a 50 % percent chance of getting VHL But the age that the tumors can start to grow is unknown.

  • Anonymous

    Cool post gabby. I did a little research and found out about treatments for tumors in the retina. Oneway to remove the tumor from the eye is to do radioactive plaque therapy. A radioactive plaque looks like a flattened gold penny with a central bump. In the bump is a small amount of radioactive iodine. what happens is the radioactive plaque is sewn onto the sclera ( white part of the eye) so it lays over the tumor. After several days the plaque is removed. Another way remove the tumor is to do Transpupillary Thermotherapy. what happens is that a near-infrared 810 nm wavelength laser destroys the cancerous cells by concentrating a focused hot beam on the tumor leaving the surrounding healthy tissue undisturbed.

  • Anonymous

    This is a fascinating post, Gabby. I hadn’t known about this disorder, likely because it isn’t publicized as much as other rare disorders like elephantiasis. I’d also like to respond to your question ” Why is there no one cure for Von Kippel Lindau?” I researched treatments for benign tumors, most were medicines or surgical removal, and chemo therapy is rarely used. However, some tumors react differently to different treatments and some may be buried too deep to be removed surgically without damaging the surrounding tissue.

  • Anonymous

    Gabby, this is a wonderful post, I had no idea about this genetic disorder. I looked into where VHL tumors or cysts can be when u first get it and its not just in the kidney, liver or pancreas it can actually be in anywhere in the body but there is a very very small chance of that happening. This was one of the best posts i have ever read and was very interesting! You can read alot more about at these websites!

  • Anonymous

    Wow, Gabby, great post. I had never heard of Von Hippel Lindau syndrome, as it is quite uncommon and not widely known, like you said. I did more research and found that it was an autosomal dominant disorder, in which sex distributions are equal, and 20% of cases are familial. Blindness and permanent brain damage were once the outcome of this disorder, however, new medications are working on bettering the lives of VHL patients. Symptoms of VHL can be different depending on the organ involved, but tumors are often common. For more info, look at this link:

  • Anonymous

    Wow Gaby this is incredible! In my research i found that there is a 40% of an offspring getting this cancer. That is a decently high chance to get this. VHL is a agreeably a scary cancer, where any cancer is scary. I’m happy that you were able to pick a topic that related to yourself. I was very surprised that it is treatable, not to full health but to live, with affecting your eye and your spinal cord. I know that the Spinal Cord is the nerve “highway.” And I would think you would be paralyzed. In my research i found out that you could only be paralyzed for a minimal time, and some patients aren’t as lucky, and are fully paralyzed.

  • Anonymous

    Great Post Gabby! I’m really sorry to hear about your dad having VHL, and I really hope that you or your sister don’t inherit it! This seems like a really hard disease to control, with all the risky surgeries and no way to get around it completely. I wanted to find out some more about the disease so I did some more research on the topic. According to my research, VHL is found in every ethnic group. I also found out that you have a 4,400,000 chance of getting the disease if it is not already in your families genes. This is 1/6 of your chance of having quadruplets. Signs that you have the disease usually appear when you are in your teens or your twenties. It also states that although your DNA information can not totally predict whether or not your going to have the rare disease, it gives you better chance of finding out if you are going to have it. The information also states that different machines and types of research are constantly being created to make finding and stopping the disease more possible.

  • Lucyannrichardson

    Hi Gabby,

    I wanted to make you aware of a VHL conference on June 18th. MD Anderson is partnering with the Von Hippel Lindau (VHL) Family Alliance to host the 2011 VHL national meeting at MD Anderson’s Dan L. Duncan Building.

    The meeting is open to patients, family members and health care providers involved in the treatment of Von Hippel Lindau disease. Experts from the National Institutes of Health,
    MD Anderson and around the country will discuss recent advances in VHL
    therapy. Attendees are encouraged to arrive the night before so that
    they can meet the speakers in an informal setting.

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