About VHL disease

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Actor Willem Defoe on von Hippel-Lindau disease


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. 

In the cases where VHL is not inherited, the mutated gene is a result of a spontaneous presentation which occurs during the formation of the reproductive cells, or in very early development. This is called a Mosaic presentation meaning it is not in every cell of the body. Individuals with a mosaic presentation of the gene are just as likely to pass it on to their offspring as those who inherited the gene.