Because VHL varies so widely, there is no consistent set of symptoms in each person. Each possible feature of the disease is detected in a different way.
If you have a family history of VHL, it is important to tell your doctor, or your child’s pediatrician, and begin screening early, before any symptoms occur. Most VHL lesions are much easier to treat when they are small. Confer with your doctor about the best time to begin screening, and the right schedule for return visits. We recommend to begin regular screening of children at risk by age 1-3 years, especially for eye examinations, and to inform the pediatrician of the family’s history of VHL.
Nearly all of us at one time or another have wondered if it is better not to know — perhaps if we just don’t go through the testing, we’ll be okay. And for some years, that may seem to be true. But some of the possible complications of VHL are sneaky — you may not even have symptoms until the problem has developed to a critical level. It’s a little like not taking care of your house or car — you may get away with it for awhile, and then it all catches up with you and it costs you a great deal all at once. There is clear, documented evidence that you will stay healthier longer if you use medical diagnostic techniques wisely and are watchful.
Detection of affected individuals by DNA analysis of a blood sample is now possible for nearly all VHL families. The accuracy of the testing, and its usefulness in more families, is increasing rapidly. DNA testing can be used to determine which members of the family need to be followed closely. It can also determine which members may be reassured that they do not carry the altered VHL gene. If they do not have the altered VHL gene, they will not need further testing, and they cannot pass the altered gene to their children.
If you are a known VHL gene carrier, or if genetic testing does not yet work for your family, you will need to continue regular medical evaluation. One normal screening examination does not necessarily mean there is no VHL present, since the first evidence of VHL may occur later in life. Occasionally a person may be so mildly affected that VHL may seem to skip a generation. VHL has been diagnosed for the first time in people as old as 80, often because their children or grandchildren developed VHL tumors.
Even when only one of the features of VHL is found, and even if there is no family history of VHL, a diagnosis of VHL should be considered and a full diagnostic evaluation of other areas of the body should be carried out. It is quite possible for someone to be the first in the family to have VHL. In some studies, twenty percent of the patients were the first in their family to have VHL.
Depending on the outcome of your screening, your doctor will tell you what particular signs need to be followed closely. In general, vision problems, vomiting, headaches, balance problems, progressive weakness in arms or legs, or persistent pain lasting more than 1-2 days and that stays in one place, should be checked by your doctor.
Once VHL has been diagnosed in any one part of the body, it is important to undergo screening for possible evidences of the disease in other parts of the body, and to return for additional screening on the schedule recommended by your medical team.
I am not a doctor or an expert by any means. Please visit VHL Family Alliance website for more information. www.VHL.org