Von Hippel–Lindau syndrome
February 3, 2023
Von Hippel-Lindau (VHL) syndrome is a rare, inherited condition characterized by the growth of multiple tumors and cysts in different parts of the body. It is caused by mutations in the VHL gene, which provides instructions for making a protein that helps regulate cell growth and the formation of blood vessels. People with VHL syndrome are at increased risk of developing benign (noncancerous) and malignant (cancerous) tumors in the brain and spinal cord, eyes, inner ear, adrenal glands, and other organs.
The tumors associated with VHL syndrome can cause a variety of symptoms, depending on the location and type of tumor. For example, tumors in the brain and spinal cord can cause headaches, seizures, and problems with vision and coordination, while tumors in the adrenal glands can lead to the overproduction of hormones and high blood pressure.
Diagnosis of VHL syndrome is based on a combination of genetic testing, medical history, and physical examination. Treatment may involve surgical removal of tumors, radiation therapy, or other forms of medical therapy, depending on the type and location of the tumors.
People with VHL syndrome are also at increased risk of developing other conditions, such as kidney cancer and endolymphatic sac tumors, which can affect hearing and balance. Regular monitoring, including imaging tests and clinical exams, is important for early detection and treatment of tumors and other symptoms associated with the condition.
NutraHacker examines the following gene related to Von Hippel–Lindau syndrome:
For more information about your own genetic profile as related to Von Hippel–Lindau syndrome, please check out our NutraHacker Critical Genetics Basic Report Description.
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