About VHL disease

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Actor Willem Defoe on von Hippel-Lindau disease

History

The discovery of  von Hippel-Lindau Disease is attributed to the work of many scientists starting as early as 1864. The two main contributors were Eugine von Hippel a German ophthalmologist and Avrid Lindau a Swedish pathologist. von Hippel first found a pattern of tumors on the retina in 1904, and in 1927 Lindau identified a trend of brain and spinal tumors. It 1936 research brought this information   together and called it "von Hippel-Lindau" disease. n  

Origin of the Disease

von Hippel-Lindau Disease (VHL) is in most cases an inherited disorder in an autosomal dominant pattern. It is a mutation on the third chromosome which is known as the tumor repressor gene. This disease presents as the growth of tumors or cysts (which are fluid filled sacs) in various areas of the body. The areas most often effected are the eyes, lower part of the brain, spine, kidneys, pancreas and adrenal glands. The mutation on the third chromosome prohibits cells to interpret information properly. The cells act as if they do not have enough oxygen and as a result the cells around the affected cell start producing abnormally high levels of blood vessels creating tumours and cysts. In VHL, the tumors are often benign depending on the location. The harm comes when they grow to excess and damage surrounding organs. Tumours found on the kidney or pancreas are more likely to be cancerous. 

"The de novo (new) mutation occurred in the germ cell (sperm or egg) or the young embryo before a process called cell differentiation. As the embryo grew, this new mutation replicated over and over again. Thus this person will have a mutation in the VHL gene in every cell of their body which can be identified via a genetic test. Although there is no family history of VHL, the person will still have a 50% chance of passing it on to their children."

(https://www.vhl.org/patients/what-is-vhl/first-in-family/)