Von Hippel-Lindau Syndrome

What is von Hippel-Lindau syndrome?

Von Hippel-Lindau syndrome is an inherited disorder characterised by the formation of tumours and fluid-filled sacs (cysts) in many different parts of the body. tumours may be either noncancerous or cancerous and usually appear during young adulthood; however, the signs and symptoms of von Hippel-Lindau syndrome can occur throughout life.

tumours called haemangioblastomas are characteristic of von Hippel-Lindau syndrome. These growths are made of newly formed blood vessels and are typically noncancerous. haemangioblastomas that develop in the brain and spinal cord can cause headaches, vomiting, weakness, and a loss of muscle coordination (ataxia). haemangioblastomas can also occur in the light-sensitive tissue that lines the back of the eye (the retina). These tumours, which are also called retinal angiomas, may cause vision loss.

People with von Hippel-Lindau syndrome commonly develop cysts in the kidneys, pancreas, and male genital tract. They are also at an increased risk of developing a type of kidney cancer called clear cell renal cell carcinoma and a type of noncancerous tumour called a phaeochromocytoma. Phaeochromocytomas affect the adrenal glands, which are small hormone-producing glands located on top of each kidney. These tumours often cause no symptoms, but in some cases can lead to dangerously high blood pressure.

About 10 percent of people with von Hippel-Lindau syndrome develop noncancerous tumours (called endolymphatic sac tumours) in the inner ear. These growths can cause hearing loss in one or both ears, as well as ringing in the ears (tinnitus) and problems with balance.

Von Hippel-Lindau syndrome can be divided into two major types based on the risk of developing phaeochromocytomas. Type 1 von Hippel-Lindau syndrome is associated with a low risk of these tumours, and type 2 is characterised by a much higher risk. Type 2 can be further divided into types 2A, 2B, and 2C, depending on the probability of developing renal cell carcinoma and haemangioblastomas.

How common is von Hippel-Lindau syndrome?

This condition occurs in about 1 in 32,000 individuals.

What genes are related to von Hippel-Lindau syndrome?

Mutations in the VHL gene cause von Hippel-Lindau syndrome.

The VHL gene is a tumour suppressor gene, which means it keeps cells from growing and dividing too rapidly or in an uncontrolled way. Mutations in this gene prevent production of the VHL protein or lead to the production of an abnormal version of the protein. An altered or missing VHL protein cannot effectively regulate cell survival and division. As a result, cells grow and divide uncontrollably to form the tumours and cysts that are characteristic of von Hippel-Lindau syndrome.

How do people inherit von Hippel-Lindau syndrome?

Mutations in the VHL gene are inherited in an autosomal dominant pattern, which means that one copy of the altered gene in each cell is sufficient to increase the risk of developing tumours and cysts. Most people with von Hippel-Lindau syndrome inherit an altered copy of the gene from one parent. In about 20 percent of cases, however, the altered gene is the result of a new mutation that occurred during the formation of reproductive cells (eggs or sperm) or in early fetal development.

Unlike most autosomal dominant conditions, in which one altered copy of a gene in each cell is sufficient to cause the disorder, two copies of the VHL gene must be altered to trigger tumour and cyst formation in von Hippel-Lindau syndrome. A mutation in the second copy of the VHL gene occurs during a person's lifetime in organs such as the brain, retina, and kidneys. Cells with two altered copies of this gene make no functional VHL protein, which allows tumours and cysts to develop.

What other names do people use for von Hippel-Lindau syndrome?

  • Angiomatosis retinae
  • Cerebelloretinal Angiomatosis, Familial
  • Hippel-Lindau Disease
  • VHL syndrome
  • von Hippel-Lindau Disease

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