{"id":8449,"date":"2024-04-11T08:54:40","date_gmt":"2024-04-11T06:54:40","guid":{"rendered":"https:\/\/www.msd.ch\/en\/?post_type=story&p=8449"},"modified":"2025-01-09T14:30:13","modified_gmt":"2025-01-09T13:30:13","slug":"what-is-von-hippel-lindau-disease","status":"publish","type":"story","link":"https:\/\/www.msd.ch\/en\/stories\/what-is-von-hippel-lindau-disease\/","title":{"rendered":"What is Von Hippel-Lindau disease?"},"content":{"rendered":"\n
\n
\n \n \n Knowledge<\/small>\n <\/a>\n \n \n

\n What is Von Hippel-Lindau disease?\n <\/h1>\n

Von Hippel-Lindau disease (VHL disease) is a rare genetic disorder in which multiple tumors and cysts can grow in various parts of the body.<\/p>\n <\/div>\n\n

\n

11.04.2024<\/p>\n

\n

Share this article<\/p>\n

\n \nFacebook icon<\/title><\/svg>\n<\/a><\/p>\n

\n\n\n\n\t.st0{fill:#00857C;}\n\n\nX icon<\/title><\/svg>\n<\/a><\/p>\n

\n \nLinkedin icon<\/title><\/svg>\n<\/a><\/p>\n

\n \nEmail icon<\/title><\/svg>\n<\/a><\/p>\n <\/div>\n <\/div>\n\n
\n
\n
\n \n \n \n \n \"Picture:\n <\/picture>\n\n <\/figure>\n \n <\/div>\n <\/div>\n\n
\n
\n
\n <\/div>\n <\/div>\n <\/div>\n <\/div>\n\n\n\n

Von Hippel-Lindau disease (VHL) is caused by a genetic defect that leads to the development of various, mostly benign tumors <\/strong>(accumulations of tissue) and cysts <\/strong>(fluid-filled cavities in tissue). They can often occur in the brain and spinal cord, in the retina, in the kidneys, in the pancreas, in the inner ear, but also in other parts of the body.<\/p>\n\n\n\n

If left untreated, the disease can be life-threatening.<\/p>\n\n\n\n

VHL disease is rare<\/h3>\n\n\n\n

VHL disease occurs in about one out of 36,000 people. Around 200,000 cases are known worldwide. The precise time at which the first signs of the disease appear and how severe the course of the disease is can vary greatly.<\/p>\n\n\n\n

At the time of diagnosis, those affected are on average 26 years old. In around 97% of people with a VHL gene mutation, symptoms appear by the age of 65. Men and women are equally affected. <\/p>\n\n\n\n

Cause of the disease<\/h3>\n\n\n\n

The cause of Von Hippel-Lindau disease is a defect in the so-called VHL gene.<\/p>\n\n\n\n

In healthy people, the VHL gene produces a protein that prevents the development of tumors. In people with Von Hippel-Lindau disease, this gene does not function as it should. It cannot produce enough protein to prevent tumor formation.<\/p>\n\n\n\n

In most cases, VHL disease is inherited<\/h3>\n\n\n\n

Von Hippel-Lindau disease is inherited in a manner known as “autosomal dominant”.<\/p>\n\n\n\n