Update on VHL: Cleveland 2002

The U.S. National Conference was held in conjunction with the Cleveland Clinics. Dr. David Goldfarb, Head of Renal Transplantation at the Cleveland Clinic and Dr. Robert Uzzo of Fox Chase Cancer Center in Philadelphia co-chaired an outstanding continuing medical education event. Fifteen physicians, two nurses, two genetic counselors, and 55 patients and family members met at the Cleveland Marriott to learn the latest advice in health management with VHL.

Fifteen outstanding presenters gave us a clear and concise overview of the major issues in VHL. The material was carefully prepared and well-honed for a well-informed lay audience.

On Friday morning before the medical meeting began Joyce Graff met with 42 family attendees for "VHL 101," an introductory session on the concepts and terminology that would be used in the medical sessions. As each person told his or her story we heard clearly the diversity of experience among people with VHL, and the breadth of topics needed to cover the interests of the entire group. Experiences ranged from people in their fifties with no more than a retinal angioma or two, to people with serious deficits.

The one theme predominant throughout was that early diagnosis, conscientious screening, and appropriate treatment are the keys to living well with VHL. While this is in part the responsibility of the physicians, the primary person in charge of patient care is the patient himself or herself. The patient has a responsibility to make the appointments, show up for testing, and share sufficient information with the physician so that the physician can do a good job. And it is also the responsibility of the patient to manage the health care team.

Often there is not one clear course of action. The patient has to approach the problem as objectively as if it were car repair or house repair -- gather information from multiple experts, listen to their recommendations and estimates (not just money but human cost), and then choose the course of action that feels right. As Patricia Rasmussen, VHLFA Director of Clinical Care, told the audience, "You are the Chief Executive Officer (CEO) of your body."

In his opening remarks, Dr. Goldfarb noted that "As a medical community, we know more about the location and mutation of this gene than perhaps any other. Practically speaking, this means that patients and their family members at risk are diagnosed earlier than ever before and therefore receive medical attention long before they become symptomatic, allowing them an unprecedented opportunity to be proactive in the approach to their care." We still face significant challenges in ensuring that new patients whose families do not realize they are at risk for VHL obtain timely diagnosis.

"It is our collective medical hope," he said, "that the familiarity we have with the VHL gene will provide unique insight into the mechanisms of malignant transformation, namely how a mutated gene, through its protein products, induces uncontrolled cellular growth and proliferation. The protein product of the VHL gene has been identified (pVHL) and an intense search is now underway to identify the pathways and targets of pVHL in an effort to develop novel therapeutic strategies for treatment. This search has profound implications not only for patients afflicted with hereditary forms of cancer such as VHL, but for patients with sporadic cancers as well."

Dr. Uzzo defined the problem of VHL. As a multi-system disorder, it is a challenge to all the doctors involved to analyze the presenting problem and delegate it to the right specialist. We don’t yet know why it affects so many organ systems in different ways.

Dr. Louis Liou and Dr. Brian Clark explained the intricacies of DNA testing, and Dr. Clark spoke about preimplantation testing, a process of fertilization in vitro, DNA testing, and then implanting an unaffected fertilized egg into the womb.

Dr. Erick Remer presented advances in diagnostic imaging. Dr. Peter Weber spoke about ELST, and Dr. Jonathan Sears about the eye. The Central Nervous system tumors and treatments were explained by Dr. Gene Barnett, and the pancreas by Dr. Matthew Walsh. Drs. Uzzo, Novick, Goldfarb, and Olencki gave an excellent series on the state of the art in kidney diagnosis and treatment, followed by an explanation of laparoscopic approaches to the adrenals by Dr. Andrew Steinberg.

Dr. Frederick Frost surveyed advances in rehabilitation following surgery, and Dr. Joseph Locala explained psychosocial concerns. Dr. Victoria Vance gave an excellent talk on insurance issues and legal concerns.

Dr. Goldfarb again stressed the importance of being a proactive patient. "Patients with VHL and their families face unique circumstances and problems. We hope that this "Update on VHL" provides some insight into the basic mechanisms of the disease, its diagnosis and the latest treatment strategies. Patients with VHL must use their physicians and other health care providers, their genetic counselors, social workers, and lawyers as resources to guide them through these issues. However, they must also remain proactive in the management of their disease through organizations such as the VHL Family Alliance."

This conference was supported in part by a grant from the U.S. National Cancer Institute, Bethesda, Maryland.