Von Hippel Lindau Disease

What Is It?

Von Hippel Lindau Disease is a hereditary disorder that increases the likelihood of formation of various types of tumors in affected individuals. Since it is a hereditary disease, it is caused by a mutation in a gene called VHL. Most patients inherit the gene from one of their parents. It is autosomal dominant, which means that only one copy of the gene must be inherited to cause the disease. Rarely, some patients can acquire the mutation as a new mutation that occurs early in development.

During an individual's lifetime, if any cells in their body acquire a second mutation in the other copy of the VHL gene, that cell is at risk for forming a tumor. There are various types of tumors caused by von Hippel Lindau syndrome and individuals with the disease are at high risk for their development, often in numerous locations in the body.

Although von Hippel Lindau is not entirely a nervous system disease, it can commonly affect the nervous system as the most common types of tumors formed, hemangioblastomas, can occur in areas that directly affect the brain and/or spinal cord, leading to neurologic symptoms.

What Types of Symptoms Are Typical of von Hippel Lindau Disease?

Individuals with von Hippel Lindau disease are at high risk for forming various tumors and cysts (fluid-filled sacs in various tissues). Some of these tumors are malignant (cancer) while others are benign. The most common type of tumor associated with VHL is called a hemangioblastoma, which is an abnormal growth of blood vessel forming cells. These tissues, while generally considered benign, can be aggressive in some situations and can occur in areas that cause significant symptoms. For example, hemangioblastomas that grow in the central nervous system, either the brain or spinal cord, can cause various neurological impairments such as weakness, movement coordination problems, nausea and vomiting and headaches. Furthermore, they can affect the retina of the eye, which can contribute to visual changes or blindness.

Other types of tumors that can develop in von Hippel Lindau syndrome sufferers include clear cell renal cell carcinoma of the kidney, neuroendocrine tumors of the pancreas, and pheochromocytoma. Pheochromocytoma usually arises in a gland called the adrenal gland and can occasionally secrete high levels of adrenal hormones called epinepherine and norepinepherine (adrenaline). This can cause symptoms such as attacks of headache, panic, sweating and very high blood pressure. Finally, endolymphatic sac tumors, which occur in the inner ear, can cause hearing changes and even deafness.

In addition to the tumors that are common in these patients, benign fluid-filled sacs (cysts) can form in various tissues including the kidney, pancreas and parts of the urogenital tract.

The neurological symptoms associated with von Hippel Lindau various from patient to patient, depending on the presence of and location of hemangioblastoma tumors that occur.

How Is The Diagnosis Typically Made?

Making the diagnosis of VHL depends on the context of each individual presentation. Ultimately, genetic testing can identify the presence of the faulty gene and confirm the diagnosis. However, the detection of tumors associated with the disease in a pattern that is consistent can be sufficient to diagnose the disease in many cases. For example, if an individual has a known family history of the disease and then develops even one associated tumor such as a hemangioblastoma, pheochromocytoma or renal cell carcinoma (all of which are relatively rare in the general population) the diagnosis is very little in doubt. However, an individual with no family history would not be suspicious for the disease unless 2 or more tumors consistent with the diagnosis are discovered

What Are Some Common Treatments?

Due to the genetic nature of the disease, which affects every cell of the patient's body, there is not yet any cure for von Hippel Lindau disease. However, once the diagnosis is recognized, there are a number of things that can be offered to help decrease complications, treat tumors and their symptoms and improve overall quality of life. This may include regular screening examinations and tests to detect tumors early so that treatment may be initiated as indicated. This early diagnosis and treatment may help avoid complications of late disease and make treatment of each tumor easier.

For tumors that require treatment, the means by which they are treated vary depending on the type. While many may be amenable to surgical removal, others may be treated by other methods such as cryotherapy, photocoagulation, chemotherapy, radiation therapy or radiofrequency ablation.

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Important Note: This site is not intended to offer medical advice. Every patient is different, and only your personal physician can help to counsel you about what is best for your situation. What we offer is general reference information about various disorders and treatments for your education.

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