Definition
Von Hippel-Lindau syndrome is a rare genetic disorder that causes tumor-like but benign vascular malformations in the central nervous system. The retina of the eye and the cerebellum are most commonly affected. Therefore, the disease is also called retinocerebellar angiomatosis. The disease is named after its first descriptors; 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 disorder. It is inherited autosomal-dominantly. It is important to know that the severity of the disease can vary greatly within a family.
Its occurrence need not always be inherited. Spontaneous mutations in one’s own genetic makeup can also lead to the disease. The defective gene is located on chromosome three. Due to the mutation, it is altered in such a way that the formation of new blood vessels in the central nervous system can no longer be regulated properly. This leads to the benign tumor-like vascular malformations described above.
Diagnosis of Von-Hippel-Lindau syndrome
Von Hippel-Lindau syndrome is suspected in patients with numerous vascular malformations in the retinal region. In addition, malformations of internal organs such as tumors of the adrenal gland and kidneys are more common in these patients. These can be visualized with the help of ultrasound.
Often the disease is also known in the family history. In such cases, an MRI of the brain should be performed to detect further malformations, for example in the cerebellum. A genetic examination is also possible. Here the corresponding gene mutation on chromosome 3 can be detected directly.
Symptoms of Von-Hippel-Lindau syndrome
Von Hippel-Lindau syndrome is characterized by numerous vascular malformations in the central nervous system and also in the area of the retina. These benign tumors are then called angiomas. Malformations of the internal organs such as cysts on the liver, kidney and pancreas are also common.
This also applies to tumors of the adrenal gland. However, not all patients have the same malformations. Therefore, there is also a wide range of symptoms.
The symptoms depend on the size and location of the malformations. Frequently, the blood vessels of the retina are altered, which then becomes noticeable in visual disturbances. Angiomas in the CNS usually only cause headaches at first.
If the malformation is very large and displaces brain tissue, the intracranial pressure increases. Clinically, patients often initially show gastrointestinal symptoms with nausea and vomiting. In the case of advanced cerebral pressure, there is an increase in blood pressure with a drop in heart rate as well as a disturbance in breathing.
These symptoms are summarized under the term cerebral pressure signs. If the changes are localized in the cerebellum, this leads to ataxia and balance disorders. Ataxia is a disorder of movement coordination.
Changes in the area of the pancreas are very common in patients with Von-Hippel-Lindau syndrome. Almost 80% of these patients have these mostly benign malformations. Firstly, such malformations are often cysts.
Cysts are fluid-filled cavities in the tissue and are harmless in themselves. As a rule, they do not cause any symptoms and therefore do not need to be treated. In addition to cysts, however, neuroendocrine neoplasias can also occur in the pancreas.
These originate from the hormone-producing (endocrine) islet cells and can develop into malignant tumors. Small changes of this kind below 2 cm can be regularly monitored by MRI. From a tumor size over 2cm and a significant size growth, the tumor must be surgically removed.
Often the Von Hippel-Lindau syndrome manifests itself first with changes in the retinal area. Here, tumorous angiomas form which can lead to visual disturbances. In the vast majority of those affected, eye involvement occurs in the course of life.
It is important to know that such vascular malformations in the retina develop very slowly, so symptoms such as visual disturbances appear late. Therefore, if the disease is already known, the patient should have regular ophthalmologic check-ups. Minor vascular malformations can be treated with laser.If the tumors are larger or located near the optic nerve head, various other interventional procedures are used. The editors also recommend: Stork bite on the eye
