What is Von Hippel-Lindau?
Von Hippel-Lindau (VHL) is a rare genetic disorder that occurs in approximately 1 in 35,000 people.
Individuals with VHL have tumours or cysts in many different areas of the body.
Most tumours are benign; however, they can exert pressure on nearby structures and cause symptoms.
How and when VHL will present is different for each person, so it is important to have regular check-ups.
What causes Von Hippel-Lindau?
Von Hippel-Lindau is caused by a mutation in the Von Hippel-Lindau gene.
The faulty gene cannot function properly, leading to tumours and cysts throughout the body.
This condition is often inherited from a parent. Research is still ongoing to further understand VHL and detect the condition earlier.
What are the symptoms of Von Hippel-Lindau?
Von Hippel-Lindau affects different areas of the body, so its symptoms can vary. The most common tumours and symptoms include:
- Pheochromocytoma – anxiety, high blood pressure, palpitation, headaches, excessive sweating.
- Retinal hemangioblastoma – loss of vision.
- Brain and spinal cord hemangioblastoma – headaches, dizziness, and sickness.
- Renal clear cell carcinoma – blood in urine, weight loss, lower back pain, fever.
