People who have VHL disease may experience tumors and/or cysts in up to ten parts of the body including the brain, spine, eyes, ears, kidneys, pancreas, and adrenal glands.
VHL is highly penetrant. Research demonstrates that 95% of those who test positively via a genetic test will exhibit some manifestation of the disease by age 60; 99% will have a manifestation by age 70. Most people with VHL experience tumors in a few areas, but in some cases, VHL patients may only be affected in one organ. Because of the uncertainty of exactly how VHL will manifest, active surveillance is very important to effectively manage the disease.
VHL lesions in the CNS, eye, ear, and adrenal gland will not metastasize. However, lesions in these organs can cause serious problems: CNS lesions can press on the structures around them; retinal and ear lesions can leave to blindness and hearing loss, respectively; and lesions on the adrenal glands disturb the balance of catecholamines.