Von Hippel-Lindau Disease

Von Hippel-Lindau Disease

Von Hippel-Lindau Disease (VHL) is a rare genetic disorder causing multiple tumors both malign and benign in the central nervous system, eye and viscera. VHL disease is inherited and cause by the mutation in VHL tumor suppressor gene. People with VHL have high risk of developing kidney and pancreatic cancer.

Symptoms –

 Symptoms vary depending on the problem of the disease, it includes, high blood pressure, double vision, difficulties with bowel and bladder function, poor muscle coordination, irregular heartbeats.

Diagnosis and Treatment –

Two tumor is sufficient to make a diagnosis, genetic testing is also important for the diagnosis. There is no treatment to reverse the disorder, however early detection is necessary to decrease complication. Treatment includes, surgically removing the tumors, targeted therapy – targeting the cancer specific genes, protein or the tissue.