Rare Conditions: Von Hippel-Lindau Syndrome

Von Hippel-Lindau syndrome (VHL) is a unique hereditary condition triggered when a mutated gene causes the onset of multiple blood vessel tumours known as hemangioblastomas. These tumours can affect any part of the human body, but typically develop in the brain, spinal cord and eye.

Aside from being a unique hereditary condition, VHL is also quite rare. According to cancer.net only 1 in every 30,000 people is diagnosed withv Hippel-Lindau syndrome, and of those diagnosed only 20% ever develop VHL with no family history of the disease. This means that the overwhelming majority of people diagnosed with VHL are aware, due to their family history, that they might be carrying the faulty VHL gene and thus might develop VHL at some point in their lives.

What are the symptoms of von Hippel-Lindau syndrome?

VHL is associated with a noncancerous type of tumour, known as pheochromocytoma. Many people with VHL might experience no physical or mental symptoms at all. That being said, possible symptoms of VHL can include:VHL-affected organs

- Increased anxiety.

- Heavy sweating.

- Headaches and migraines.

- Increased blood pressure.

- The onset of multiple hemangioblastomas of the brain, spinal cord, and eye.

- The sudden development of numerous kidney cysts, pancreatic cysts, and pheochromocytoma (tumour of the adrenal gland).

- The onset of a hemangioblastoma and any one of the previous conditions. This symptom combination should be of real concern to a doctor or medical professional as it is typically a common indicator of VHL.

How is von Hippel-Lindau syndrome diagnosed?

VHL is often diagnosed in one of two ways. Firstly, a diagnosis will be made by a medical professional if an individual displays any number of the symptoms of VHL as listed above. Secondly, a diagnosis of VHL can be made as a result of regular medical check-ups such as a yearly eye examination.

It is particularly important for those with a family history of VHL to ensure that they commit to regular physical examinations as a means of checking for common signs of VHL. Yearly physical examinations will often include a urine test to check the condition of the kidneys, an abdominal ultrasound to check the condition of VHL effected organs such as the kidneys, pancreas and adrenal glands, and in some cases an MRI scan to check the condition of the spine.


As of writing, there is no known cure for this rare condition. To prevent the onset of some types of cancer associated with VHL, regular medical check-ups are advised for those already diagnosed with VHL and indeed those most at risk of developing VHL due to the family history.

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