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What Is Von Hippel-Lindau (VHL) Disease?
Von Hippel-Lindau (VHL) is a genetic disorder that causes individuals to have an increased chance or likelihood of developing multiple types of tumors and cysts. In VHL, both benign and malignant tumors can occur and must be monitored or managed by physicians with expertise in this condition.
Germline mutations in the VHL gene are identified in 99% of cases and over 80% of individuals have a family history of this disease. Up to 20% of patients have a new/de novo manifestation (first in their family) and any combination of features may be required to make the diagnosis. For information on Diagnosing VHL >
There are many manifestations of VHL throughout the body. Tumors in the central nervous system (cerebellum and spine), eyes (retina), adrenal, kidney, pancreas, and reproductive organs can occur with most patients having several disease manifestations. Various specialists are often required to manage VHL and providers such as urologic surgeons, neurosurgeons, general surgeons, ophthalmologists, endocrinologists, neurologists, medical oncologists, genetic counselors, audiologists, and medical geneticists may be involved in the care of VHL. Many VHL Care Centers are led by disease champions that are experts across various disease sites and strive to minimize the number of providers needed to reduce the tremendous burden our patients have meeting screening requirements.
With improvement in our understanding of the disease over the last few decades, patients can enjoy good quality and quantity of life. However, multiple surgical treatments may be required to ensure the disease manifestations do not cause irreversible harm.