Gayun Chan-Smutko, CGC and the VHL Family Alliance have createdThe VHL Handbook Kids’ Edition: A Handbook for Parents and Kids Living with von Hippel-Lindau
What is von Hippel-Lindau (VHL) disease?
VHL is a rare genetic disease that can cause tumors to develop in many areas of the body. The tumors can be benign or cancerous and -- depending on where they occur -- can cause many serious issues for patients. Certain types of brain, spinal, kidney and adrenal tumors are common expressions of VHL.
VHL can manifest in many different ways, including but not limited to the following lesions:
- Clear cell renal carcinoma
- Endolymphatic sac tumors
- Epididymal papillary cystadenoma
- Pancreatic serous cystadenomas
- Pancreatic neuroendocrine tumors
Why should those at risk be tested? Is there a cure?
There is no cure for VHL – yet. While researchers continue to search for a way to end VHL, clinicians and patients work together to monitor and manage the condition.
It’s important to diagnose VHL as early as possible so active screening can begin. Monitoring starts in childhood with annual eye exams, physicals and blood tests. As patients reach adulthood – when tumors are more likely to develop – screening includes more comprehensive tests, including CT Scans and MRIs.
Scans provide physicians with baseline information, and help track the symptoms and progress of the disease. This allows patients and their medical teams to determine the best time for intervention.
Who should be tested for VHL?
Those with a personal history of VHL-associated lesions may be tested for VHL, particularly if they have multiple lesions, a family history of these conditions, or develop these lesions at a young age. Symptoms of VHL typically do not develop until adolescence or adulthood, and some carriers may be completely asymptomatic.
Although VHL is a relatively rare disease, affecting 1in 32,000 people, its impact within carrier families is enormous. It’s important to discuss your family medical history with your doctor and/or a genetic counselor to spot patterns that might point to VHL or other genetic conditions.
If I have VHL, how will that affect my children or chances to start a family?
Since those with VHL have a 50% chance of passing the condition on to each of their children, it’s common for us to treat and counsel multiple family members.
If a patient is diagnosed prior to starting a family we can discuss the different options available to the patient and his/her partner. For example if a couple is interested in testing options prior to birth we can discuss the option of prenatal testing through the Mass General Obstetrics Program or work with Mass General’sPre-implantation Genetic Diagnosis Program. Pre-implantation genetic diagnosis, or PGD, helps couples with an increased risk for a specific genetic condition to have a child unaffected by that particular disease.
We also help those with VHL discuss options for having their children tested and how to talk to kids about VHL. We encourage parents with VHL to have their children tested so screening and discussion can begin early, and offer many resources – including thePACT Program– to help families cope. TheVHL Family Allianceis another great resource for patients and their loved ones.
If you have questions about VHL or other genetically-inherited cancer risk factors, contact theCenter for Cancer Risk Assessmentat 617-724-1971.