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Von Hippel-Lindau disease is a genetic disorder that causes benign tumors to grow in areas of the body rich in blood. It can cause central nervous system tumors, kidney and pancreatic cancers, and retinal cancers. Early detection and treatment can help manage symptoms, but there is no cure. It is diagnosed by the appearance of characteristic tumors and routine screening is recommended for those genetically predisposed.
Von Hippel-Lindau disease is a genetic disease caused by a mutation on the third chromosome. In healthy individuals, the chromosome has a Von Hippel-Lindau tumor suppressor, while individuals with the disorder lack this suppressor. As a result, clusters of largely benign tumors formed by blood vessels appear in areas of the body rich in blood. There is no cure for Von Hippel-Lindau disease, but if it’s caught early, the symptoms can be addressed and treated.
The disease is named after Eugen von Hippel and Arvid Lindau, scientists who observed the progressive growth of tumors characteristic of the disease in the early 1900s. In the 1960s, the problem was more closely identified and named Von Hippel’s disease- Lindau for the scientists who laid the foundations for the research. Lindau was the first to identify central nervous system tumors that appear in the majority of patients, in the 1920s, and von Hippel’s eye tumors, which appear in about half of diagnosed patients, in 1904.
Central nervous system tumors called angioblastomas are the most common symptom of Von Hippel-Lindau disease. These tumors are usually benign, but if left to grow, they can put pressure on the brain and spinal cord, causing brain damage, headaches, dizziness, and difficulty walking. About 60% of patients can get kidney and pancreatic cancers, and a smaller percentage get retinal cancers, which can lead to blindness. 10-20% of patients have tumors in the adrenal gland, which can cause behavior problems, and about 10% of patients are known to grow tumors in their ears.
Tumors are the hallmark of Von Hippel-Lindau disease. The abnormal growth of blood vessels in tumors is called angiomatosis and makes the tumors difficult to treat due to the large blood supply. Surgery is an option for some cancers, as is radiation. If identified early, the growth of the tumors can be stopped, allowing the patient to live a relatively normal life. If caught late or extremely aggressive, the tumors can eventually kill the patient.
About one in 35,000 people have Von Hippel-Lindau disease, which is diagnosed by a doctor if one or more of the characteristic tumors appear in a patient. The onset of Von Hippel-Lindau disease varies; some patients experience symptoms as early as age 10, while others may live for up to 30 or 40 years before signs of the disease emerge. If someone is genetically predisposed because one parent has the disease, routine screening for Von Hippel-Lindau disease should be done regularly. In this way, the first signs of the disease can be quickly caught and treated.
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