von Hippel-Lindau Disease Diagnosis

It can be challenging to diagnose von-Hippel Lindau disease (VHL). The disease often affects more than one part of the body and the symptoms are often vague. However, diagnosing VHL disease and finding VHL tumors and cysts early may increase the chance for successful treatment and better quality of life.

As a genetic condition, VHL itself is diagnosed through genetic testing. Genetic testing involves analyzing a blood sample for specific changes in the DNA, or genetic information. Learn more about genetic testing.

Screening for von Hippel-Lindau tumors and cysts

Patients who have the VHL genetic mutation should be screened regularly for the development of VHL tumors and cysts. The VHL Alliance is an organization of patients, researchers and physicians dedicated to improving care for VHL patients. The alliance publishes screening guidelines that help doctors and patients know when and how often patients should be tested for specific tumors. View the screening guidelines.

Doctors use several techniques to screen and diagnose VHL tumors. These include:

• Imaging exams. These exams can be used to locate a tumor, track its growth and monitor its response to treatment. Learn more about imaging exams.
• Blood and urine tests. These tests can also be used to monitor a tumor and its response to treatment.
• Biopsy. A biopsy involves removing a small portion of tumor tissue and studying its cells under a microscope. Biopsies are typically used to identify the exact tumor type.

Getting a second opinion at MD Anderson

The experts at MD Anderson are highly experienced in diagnosing VHL and its associated conditions. We welcome the opportunity to provide second opinions.

As a genetic condition, von Hippel-Lindau disease runs in families. If you have von Hippel-Lindau disease, or if you have a family history of the disease, we recommend genetic counseling. Visit our genetic testing page to learn more.