Von Hippel Lindau Syndrome
What is it?
Von Hippel-Lindau syndrome is a rare genetic disorder that causes the growth of tumors or cysts in various parts of the body. It is caused by mutations in the VHL gene, which normally helps to suppress tumor growth.
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Additional names
This group contains additional names:
- VHL
Signs & symptoms
Symptoms of VHL syndrome can vary widely depending on the location of the tumors or cysts. Some common symptoms include:
* Hemangioblastomas: These are tumors that develop in the brain, spinal cord, or retina of the eye. Symptoms may include headaches, nausea, vomiting, vision changes, or difficulty with coordination or balance.
* Kidney Cysts and Tumors: Individuals with VHL syndrome may develop cysts or tumors in the kidneys, which can lead to kidney failure or high blood pressure.
* Pancreatic Tumors: Tumors in the pancreas can cause abdominal pain, nausea, vomiting, and weight loss.
* Endolymphatic Sac Tumors: These are tumors that develop in the inner ear, which can cause hearing loss or vertigo.
Diagnosis
Diagnosis of VHL syndrome typically involves a physical examination, medical history, and genetic testing to look for mutations in the VHL gene. Imaging tests such as MRI or CT scans may be used to look for tumors or cysts in various parts of the body.
Treatment
Treatment for VHL syndrome may involve a combination of surgery, radiation therapy, and medication to manage symptoms or prevent the growth of tumors or cysts. In some cases, regular monitoring and surveillance may be recommended to detect and treat tumors or cysts early before they cause significant damage.
☝️ This is not a substitute for professional medical advice. Please consult with your physician before making any medical decision.
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Source of Information - We analyze big data of more than 23 million patients de-identified medical records from the following sources:
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