Jane Churpek, MD, genetic counselor Sarah Nielsen, and Ellen Waller, VHL patient
Medical oncologist Jane Churpek, MD, center, and genetic counselor Sarah Nielsen, MS, CGC, right, meet with a patient in the Duchossois Center for Advanced Medicine.

Von Hippel-Lindau Disease (VHL) Clinical Care Center

About Von Hippel-Lindau (VHL) Disease

Von Hippel-Lindau disease (VHL) is a rare genetic disorder characterized by abnormal growth of blood vessels and benign or cancerous tumor development in various organs, including the following:

  • Adrenal glands
  • Brain
  • Ears
  • Eyes
  • Kidneys
  • Pancreas
  • Reproductive organs
  • Spine

VHL is caused by mutations in the VHL gene. It occurs in about 1 in 32,000 people in the U.S. Symptoms typically develop in the teens or early 20s, though screening may begin at birth.

It's important to diagnose VHL as early as possible so that thorough screenings can begin. With comprehensive surveillance, tumors can be caught early, when they may be easier to treat. A VHL diagnosis requires screenings at least yearly, which may include CT and MRI scans, blood tests, eye exams and physicals. Because VHL affects each person differently and involves multiple organ systems, the best treatment plan requires coordinated care from a team of specialists.

Expert Care for VHL

In 2012, the nonprofit VHL Alliance (VHLA) designated the University of Chicago Medicine as a comprehensive VHL Clinical Care Center for children and adults — the only center in Illinois.

Our VHL center harnesses the combined expertise of specialists from 13 clinical areas, including neuro-oncology, endocrine surgery, genetics, medical oncology, urology, gastroenterology and more. Care is tailored to each patient's needs, and appointments are coordinated across specialties to reduce visits to the medical center.

Our dedicated team provides the full range of genetic services, screening and medical and surgical treatment options for VHL. We offer genetic counseling and genetic testing for individuals and families at risk. For those already diagnosed with VHL, we develop a detailed plan of care and provide resources to help them learn about and adjust to their diagnosis. A comprehensive surveillance plan is initiated to screen for early signs of VHL complications. Specialists are consulted as needed.

The goals of the UChicago Medicine VHL Clinical Care Center are to:

  • Improve the diagnosis and treatment of VHL
  • Provide coordinated and compassionate care across medical specialties
  • Provide a resource center for patients and physicians who are new to VHL
  • Actively contribute to the body of clinical and molecular VHL research