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Von Hippel-Lindau (VHL) Syndrome

What is von Hippel-Lindau (VHL) syndrome?

Von Hippel-Lindau syndrome, or VHL syndrome, is a rare inherited disorder that is characterized by the formation of tumors (hemangioblastomas and pheochromocytomas) and cysts in different parts of the body. These tumors and cysts are typically developed in the retinal area, kidneys, pancreas, and genital tract, but have the potential to occur in up to ten different parts of the body. They can be either cancerous or noncancerous. People with VHL syndrome are also at an increased risk for developing renal cell carcinoma and pancreatic neuroendocrine tumor cancer.

What causes von Hippel-Lindau (VHL) syndrome?

VHL syndrome is a genetic condition caused by a mutation in one of two copies of the VHL gene. This mutation is inherited in an autosomal dominant inheritance pattern. However, about 20% of people with VHL do not have any family history of the condition.

What are the symptoms of von Hippel-Lindau (VHL) syndrome?

Age of onset of VHL symptoms varies from family to family, and even from individual to individual, but the most common symptom of VHL is hemangioblastomas, which are tumors that appear as knots formed by tiny blood vessels. Even though these tumors are benign, they still exert pressure on the brain or spinal cord, causing additional symptoms such as headaches, balance problems, and vision problems. Furthermore, cysts can grow around these hemangioblastomas and cause high blood pressure, panic attacks, heavy sweating, digestive problems, and/or reduced kidney function. VHL can also cause an endolymphatic sac tumor behind the inner ear, which can lead to a loss of hearing and balance problems.

How is von Hippel-Lindau (VHL) syndrome diagnosed?

VHL syndrome is diagnosed after an observation of the characteristic signs and symptoms of the disease, namely, hemangioblastomas or renal cell carcinoma. Since the condition is genetic, a detailed family history is also taken into account, and a VHL diagnosis can be confirmed through genetic testing or DNA analysis of a blood smaple.

What are the available treatments for von Hippel-Lindau (VHL) syndrome?

Treatment for VHL revolves around surgery to remove brain, spinal, and retinal hemangioblastomas, which will then collapse any cysts that have formed around the affected area. This surgical treatment can consist of the following:
  • Cryotherapy
  • Fluid drainage
  • Vitreous surgery
  • Radiation

Where can I find more information on von Hippel-Lindau (VHL) syndrome?

Von Hippel-Lindau (VHL) Syndrome Articles

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