von Hippel-Lindau syndrome (VHL) is a genetic disorder that causes the formation of tumors and fluid-filled sacs (cysts) in many parts of the body. These can be non-cancerous (benign) or cancerous (malignant). One type of tumor that is often seen in people with VHL is a hemangioblastoma, which is a growth that is made from newly formed blood vessels, and may cause headaches, weakness, and poor coordination. Retinal angiomas, which are tumors in the back of the eye, can also develop and may cause vision loss. Cysts can develop in the kidneys, pancreas, and in genital tract. Individuals with VHL are also at risk for a specific type of kidney cancer, called clear cell renal cell carcinoma, and a pancreatic cancer, called pancreatic neuroendocrine tumor, and a tumor in the small hormone-producing glands on top of each kidney (adrenal gland), called a pheochromocytoma. Rarely, tumors in the ear can form, which may cause hearing loss and ringing in the ears (tinnitus).
VHL is caused by changes (mutations) in the VHL gene, which is a tumor suppressor that protects the body from uncontrolled cell growth. VHL is inherited in an autosomal dominant way, which means a mutation in only one of two gene copies a person has is enough to cause VHL, but not enough to actually cause tumor or cyst formation. If a person with VHL has a mutation occur in the remaining VHL gene copy, it can cause uncontrolled cell growth, leading to formation of a cyst or tumor. VHL is usually considered in a person with multiple hemangioblastomas or cysts and is confirmed with genetic testing. There is no cure for VHL, but some tumors and cysts can be removed with surgery if they are causing major issues. Also, surveillance for tumors and cysts will be recommended. If you or your child has been diagnosed with VHL, talk to a doctor about management of the condition. Support groups are available for more information and support.