Von Hippel Landau Syndrome
Symptoms of hemangioblastomas depending on location
- Difficulty walking and muscle coordination
- Double Vision
- Decreased feelings in the arms, legs and body
- Difficulty walking
- Difficulties with bowel and bladder function
- Decreased feeling in arms, legs and body
- Walking difficulties
- Swallowing difficulties
- Poor Coordination
The gene associated with VHL is also called VHL. A mutation in this gene gives increased chance of developing kidney cancer and other symptoms of VHL.
How it is inherited
VHL is inherited in an autosomal dominant pattern. Most people with VHL inherit an altered gene from the affected parent.
How VHL can be treated
As of now, there is no known cure for VHL, but the associated tumors can be treated. Microsurgical treatment of tumors of the CNS is often ineffective, because the tumors usually come back sometime after surgery. Stereotactic Raditherapy may present a better alternative.
How To Diagnose
X-rays can provide visual evidence of tumors in the CNS, brain, brain stem, or spinal cord indicating Von Hippel Lindau Syndrome. Also, in young patients, VHL can be suspected with multiple bilateral clear cell renal cell carcinoma.
It is not popular in only a certain group of people and also has nothing to do with location. Approximately 1 in every 30,000 people have VHL. However 20% of people do not have any family history of the condition. They instead have a de novo, which is a new mutation of the VHL gene.
What I discovered..
- VHL is not as common as I originally expected.
- VHL can lead to other types of kidney cancer.
- It is mostly inherited, however 20% of people with VHL have no family history of the condition.
Von Hippel-Lindau Syndrome
A VHL Story (Von Hippel Lindau Disease)