Tumors and cysts develop in von Hippel- Lindau syndrome, with symptoms such as headaches, vision changes, abdominal pain, hypertension, and more. Von Hippel-Lindau syndrome, also known as VHL, is a genetic disease in which cysts (fluid-filled sacs) and tumors develop in multiple areas of the body. Although not all of the tumors are cancerous, people living with VHL are at an increased risk of
Von Hippel-Lindau syndrome, also known as VHL, is a genetic disease in which cysts (fluid-filled sacs) and tumors develop in multiple areas of the body. Although not all of the tumors are cancerous, people living with VHL are at an increased risk of developing certain types of cancer.
The VHL gene functions as a tumor suppressor gene, which keeps normal cells from growing out of control. When there is a mutation in this gene, VHL can no longer function normally. This causes cells to divide too quickly and grow out of control. This abnormal growth then forms the cysts and tumors associated with this disorder.
The symptoms seen in VHL often depend on the type and location of the developing tumors. This article will review the symptoms of VHL and the complications this syndrome may cause.
The most common symptoms of VHL are the development of cysts and tumors in the body. Many of these cannot be felt or seen from the outside of the body, but they have the potential to cause a variety of symptoms, some of which can be severe.
Hemangioblastomas (noncancerous, highly vascular, slow-growing tumors) are a common type of tumor seen in VHL. The most common cysts and tumors in VHL and the symptoms they cause are:
The most significant complication of VHL is when the growing tumors become cancerous. This is most likely to happen in certain organs, specifically the kidneys and the pancreas.
The type of kidney cancer that VHL causes is called clear cell renal cell carcinoma. The symptoms of ccRCC include:
The type of pancreatic cancer associated with VHL is pancreatic neuroendocrine tumor (pNET). This type of pancreatic cancer starts in the cells of the pancreas that produce hormones. Symptoms of pNET can include:
As VHL is often an inherited disorder, the evaluation for the presence of the mutated VHL gene may be done during childhood. Once this disorder is diagnosed, screening tests and imaging may be ordered at regular intervals to check on any tumors or cysts that develop. The screening tests may include:
If someone has a known diagnosis of VHL and any of the side effects above develop, they should notify their healthcare provider.
Von Hippel-Lindau is a genetic disorder in which a mutation in the VHL gene causes the development of tumors and cysts to form in the body’s organs. Many of these tumors are not cancerous, but this disorder can cause pancreatic and renal cell cancers.
The symptoms associated with VHL vary depending upon the location of the tumor or cysts but can include headaches, dizziness, blood pressure elevation, vision loss, and blood in the urine.
Receiving a diagnosis of VHL may cause someone a lot of fear and anxiety. It is important to keep up with scheduled imaging and testing to look for the development of any new tumors. It’s also important to report any additional symptoms to your healthcare team so they can evaluate them if necessary. Obtaining a personal family history can be important as well.Symptoms of Von Hippel-Lindau Syndrome View Story