Von Hippel Lindau Syndrome


Von Hippel Lindau Syndrome is a rare genetic disease in which tumor-like but benign vascular malformations occur in the area of ​​the central nervous system.

The skin is primarily affected by the retina (retina) on the eye and the cerebellum (Cerebellum). Hence the disease is also used in technical jargon retinocerebellar angiomatosis called.

The namesake of the disease are the first to describe it; the German ophthalmologist Eugen von Hippel and his Swedish colleague Arvid Lindau. In addition, there are often malformations of the kidney and adrenal gland.

Causes of Von Hippel Syndrome

Von Hippel Lindau Syndrome is a genetic disease.

It is inherited as an autosomal dominant trait. It is important to know that the severity of the disease can vary widely within a family.

Their appearance doesn't always have to be inherited. Spontaneous mutations in one's own genome can also lead to the disease. The disturbed gene is on chromosome three. The mutation has changed it in such a way that the formation of new blood vessels in the central nervous system can no longer be properly regulated.

The benign tumor-like vascular malformations described above result.

Diagnosis of Von Hippel Lindau Syndrome

The suspicion of von Hippel-Lindau syndrome is in the room in patients with numerous vascular malformations in the retina.

In addition, malformations of internal organs such as tumors of the adrenal gland and kidneys occur more frequently in these patients. These can be represented with the help of ultrasound.

Often the disease is also known in a family history. Then an MRI should be done on the brain in order to be able to determine further malformations, for example in the area of ​​the cerebellum. Genetic testing is also possible. The corresponding gene mutation on chromosome 3 can be detected directly here.

Symptoms of Von Hippel Lindau Syndrome

Von-Hippel-Lindau syndrome results in numerous vascular malformations in the central nervous system and also in the retina. These benign tumors are then called angiomas.

Malformations of the internal organs such as cysts on the liver, kidneys and pancreas are also common. This also applies to tumors of the adrenal gland.

However, not all sufferers have the same malformations. Therefore there is a wide range of symptoms. The symptoms depend on the size and location of the malformations.

The blood vessels of the retina are often changed, which is then noticeable in visual disturbances. Angiomas in the CNS usually only lead to headaches. If the deformity is very large and displaces brain tissue, the intracranial pressure increases. Clinically, the patients often initially show gastrointestinal symptoms with nausea and vomiting.

With advanced intracranial pressure, blood pressure rises with a drop in heart rate and breathing is disturbed. These symptoms are summarized under the term intracranial pressure signs. If the changes are localized in the cerebellum, this leads to ataxia and balance disorders. Ataxia is a disorder of the coordination of movements.

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Manifestation on the pancreas

Changes in the pancreas are very common in patients with Von-Hippel-Lindau syndrome. Almost 80% have these mostly benign malformations.

Read more on the topic: Causes of Pancreatic Cancer

On the one hand, such malformations are often cysts. Cysts are fluid-filled cavities in tissue and are harmless in themselves. They usually don't cause symptoms and therefore don't need treatment.

In addition to cysts, however, neuroendocrine neoplasms can also occur in the pancreas. These originate from the hormone-producing (endocrine) islet cells and can develop into malignant tumors over time. Small changes of this kind below 2cm can be regularly monitored using MRI. From a tumor size of more than 2 cm and a significant increase in size, the tumor must be surgically removed.

Manifestation on the eyes

Von-Hippel-Lindau syndrome often manifests itself first with changes in the retina. This is where tumor-like angiomas form, which can lead to impaired vision.

For the vast majority of those affected, eye involvement occurs in the course of their lives. It is important to know that such vascular malformations in the retina develop very slowly, so symptoms such as visual disturbances appear late.

If the disease is therefore already known, the patient should undergo regular ophthalmological checkups. Smaller vascular malformations can be treated with a laser. In the case of larger tumors or if they are located near the optic nerve head, various other interventional procedures are used.

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Therapy of Von Hippel Lindau Syndrome

Von-Hippel-Lindau syndrome is caused by a mutation on chromosome three. A causal therapy is currently not possible.

Therefore, only the option of symptomatic therapy remains. Here, the size and location of the vascular malformation are decisive. Small tumors in the area of ​​the retina are treated with a laser. This achieves good therapeutic successes with which the patient's vision is often largely preserved.

For larger angiomas, e.g. cryotherapy is used. Here the tumor is frozen. Radiation therapy is also used; for example as part of brachytherapy. In this procedure, an enclosed radioactive source is placed in close proximity to the angioma.

Malformations of the internal organs such as cysts on the liver, kidneys and pancreas only need to be tackled surgically if they cause symptoms due to their size.

Tumor changes in the pancreas or kidneys must be surgically removed. If the tumors are still small, organ-preserving surgery can often be performed, so regular check-ups are essential.

Read more on the topic: Therapy of kidney tumors

Life expectancy of von Hippel-Lindau syndrome

Von Hippel Lindau Syndrome is a genetic disease with various benign and malignant malformations; above all in the area of ​​the retina, the cerebellum and the kidney or adrenal gland.

The patient's prognosis depends on the size and location of the tumors. These are not the same for all those affected.

Renal cell carcinoma is the leading cause of death. Vascular malformations in the brain can also lead to the death of the patient. Average life expectancy is given as around 50 years. However, it has to be said that the tumors are now recognized and treated at an early stage through consistent check-ups. This leads to a significant improvement in life expectancy.