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Also known as VHL


Von Hippel-Lindau syndrome,also known as VHL, is an inherited disorder in which tumors develop in one or more parts of the body like brain, spine, eyes, kidney, pancreas, adrenal gland, etc . There is abnormal growth of blood vessels in form of tufts/knots known as angioma or hemangioblastoma. The disease shows a different clinical course and severity in each patient. Cysts may grow up around angiomas which are fluid-filled sacs and may exert pressure or create blockages that can cause symptoms. Majority of these tumors are benign but those in kidney and pancreas may turn malignant.



Symptoms vary depending on the organ involved, as :

  • • Headache
  • • Nausea
  • • Vomiting
  • • Imbalance while walking
  • • Vision disturbance
  • • Weakness of arms/legs
  • • High blood pressure
  • • Panic attacks
  • • Heavy sweating
  • • Digestion problems
  • • Hearing problem


Von Hippel-Lindau is caused by an alteration in one of the two copies of a gene referred to as the VHL gene. The VHL gene is in the region 3p25-p26, near the tip of the short arm of chromosome 3. This altered gene may be transmitted genetically, following a dominant pattern of inheritance. Each child receives one gene of each pair from each parent. If one parent has an alteration (mutation) in a dominant gene, each child has a fifty-fifty chance of inheriting that gene. It may be sporadic in few cases.

The normal VHL gene acts as a “tumor-suppressor gene”, whose normal function is to suppress the formation of tumors. In order for a tumor to form, both copies of the VHL gene (one from each parent) must become inactivated. In individuals who do not have the inherited alteration in the VHL gene, each of these two normal copies of the VHL gene undergoes some change that inactivates the VHL protein and allows a tumor to form.


- DNA analysis


Excision of tumor wherever possible. RFA or cryosurgery may be an option for kidney tumors. Laser ablation is advised for retinal angiomas.

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Latest Activity

Can VHL miss a generation and return in the next?
My father was having VHL syndrome. But still no of my siblings are having any s...
Male 29 , Aligarh


1 Day Ago

What best treatment advice you suggest me for RCC and VHL?
I am suffering from renal cell carcinoma and VHL disease and removed my right k...
Male 35 , Bhatinda


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Are there prenatal tests for von hippel lindau syndrome?
I am suffering from VHL syndrome. We are planning for children. Can you tell us...
Male 28 , Allahabad


1 Day Ago