Von Hippel Disease Syndrome

VON HIPPEL LINDAU SYNDROME

1. Describe Von Hippel Lindau syndrome. What are the symptoms of this syndrome and how does it affect an individual?

Von Hippel Lindau syndrome is a genetic disorder that causes the formation of both noncancerous and cancerous tumors and cysts, which are fluid-filled sacs, on a person’s body. The tumours are known as hemangioblastomas, which are created from newly formed blood vessels. The syndrome also causes an increased risk of developing clear cell renal cell carcinoma, which is a type of kidney cancer, along with pheochromocytoma, which is a tumour of the adrenal gland. (Frantzen, 2012)

Medical website, “Patient,” states that the life expectancy of a person with Von Hippel Lindau syndrome is 50 years. (Thomas, 2010)

Von Hippel Lindau syndrome occurs because of mutations in a gene named VHL. The syndrome can be inherited when one of the parents have a mutated VHL gene. People can inherit either the normal gene from one parent or the mutated gene from the other, if one parent has a mutated VHL gene. Therefore, there is a 50% chance of inheriting the mutation if one parent has this mutation. (Cancer, 2013)

The symptoms of Von Hippel Lindau will vary depending on the location, and size of the tumours formed. Tumours developed at the brain or spinal cord can cause symptoms such as headaches, vomiting, a sense of weakness and a lack of coordination. Hemangioblastomas appearing near the retinal area can also lead to vision loss. (Frantzen, 2012)

2. What test can be used to determine whether someone has this syndrome?

Von Hippel Lindau syndrome occurs because of mutations in a gene named VHL. Molecular genetic testing of that gene will provide a 90%-100% rate of detection. This syndrome is suspected and should be tested for when symptoms like hemangioblastomas, which are tumours, form. (Frantzen, 2012) Furthermore, if a person has a family history of this syndrome and has any symptoms such as cysts, kidney cancer, or...