Division of Medical Genetics

Von Hippel-Lindau (VHL) Clinical Care Center

Katherine L. Nathanson, M.D., Director

This center is dedicated to the comprehensive evaluation and management of children and adults with von Hippel-Lindau (VHL) syndrome. VHL is a hereditary cancer syndrome characterized by the development of vascular tumors of the central nervous system and retina, renal carcinomas, pheochromocytomas, pancreatic islet cell tumors, endolymphatic sac tumors, and benign cysts affecting a variety of organs. Through the Center, we provide coordinated multidisciplinary care including diagnosis, medical management, genetic counseling, genetic testing, education, and support. Physicians from both the Hospital of the University of Pennsylvania (HUP) and Children’s Hospital of Philadelphia (CHOP) participate in this center and specialize in:

• Endocrinology
• Hypertension (pheochromocytoma management)
• Medical Genetics
• Neurology
• Neuro-oncology
• Neurosurgery
• Obstetrics and gynecology
• Oncology (renal cancer)
• Otorhinolaryngology (ENT)
• Ophthalmology (retina)
• Surgery
• Urology

All of the physicians who are part of the center are experienced in treating patients with VHL syndrome, including expertise in minimal invasive surgery for renal cell carcinoma, adrenal-sparing surgery for pheochromocytoma, hypertension management, and management of VHL-associated retinal disease. HUP has state-of-the-art imaging techniques with significant expertise in CT and MRI imaging of all organ systems including the kidneys, brain and spine, as well as interventional radiology and nuclear medicine studies.

Visits to the Center are coordinated by the Division of Medical Genetics. Appointments can be made by calling Olga Slotiuk, the Clinic Coordinator at 215-662-4740 or through e-mail at: medgenclinic@uphs.upenn.edu

When a patient with a potential or confirmed diagnosis of VHL contacts the Center at HUP, an initial appointment will be made to be seen in the Medical Genetics Clinic. Before the appointment, someone from the Center staff will speak with the patient briefly to review the medical and family history, and discuss which medical records should be forwarded to the Center for review. These medical records might include: written reports/films of CT or MRI scans, reports of pertinent consultations, surgical or pathology reports and genetic testing results. Release of medical record forms are usually required and will be provided by the Center.

Some procedures, such as an MRI or CT scan, may be scheduled for the day of the visit to the Center. Consultations with other specialists, such as an ophthalmologist or a surgeon, may also be scheduled based on the needs of the individual patient. It is not always possible or preferable to schedule these consultations for the same day as the visit to the Medical Genetics Clinic.

During the visit to the Medical Genetics Clinic, patients will have an opportunity to meet with a clinical geneticist (a physician who specializes in genetic disorders) and a genetic counselor. They will review the medical and family history, perform a physical examination, provide education about VHL, genetic counseling, discuss genetic testing, and information about which family members may also be at increased risk. The physician also will make recommendations for additional consultations or tests, and medical management of VHL.

There are many different insurance companies, and a given company may offer different policies. If there are questions about whether an insurance policy will cover the cost of a visit or needed tests, we request that the patient contact the insurance company directly. Tests and visits with different specialists are billed separately. Therefore, multiple insurance authorizations may be necessary. If several individuals from the same family are to be seen, such as a parent and a child, each will be billed separately.

Following the visit to the Medical Genetics Clinic, a detailed report of the visit will be sent to the patient and to the patient’s doctor(s). This report will summarize the patient’s history, physical findings and recommendations for follow-up care.

Patients seen in the Von Hippel-Lindau Clinical Care Center may be eligible to participate in research studies and clinical trials of cancer drugs. The University of Pennsylvania and its faculty are committed to increasing knowledge about VHL and other genetic disorders, and improving therapies for patients afflicted with VHL.

For more information, see the website of the VHL Family Alliance.