The von Hippel-Lindau syndrome is a rare inherited disorder that is characterized by neurocutaneous benign and malignant tumors in multiple organs. The diagnosis is made by ophthalmoscopy or imaging to study on tumors. The treatment is carried out by means of surgery or radiotherapy or sometimes, for retinal angiomas, laser photocoagulation or cryotherapy.

Von Hippel-Lindau (VHL) is a neurocutaneous syndrome that occurs in 1 in 36,000 people and is autosomal dominant, but inherited in different penetrance. The VHL gene is located on the short arm of chromosome 3 (3p25.3). More than 1,500 different mutations in this gene have been identified in patients with VHL. At 20% of the persons concerned the abnormal gene seems to be a new mutation.

The von Hippel-Lindau syndrome is a rare inherited disorder that is characterized by neurocutaneous benign and malignant tumors in multiple organs. The diagnosis is made by ophthalmoscopy or imaging to study on tumors. The treatment is carried out by means of surgery or radiotherapy or sometimes, for retinal angiomas, laser photocoagulation or cryotherapy. Von Hippel-Lindau (VHL) is a neurocutaneous syndrome that occurs in 1 in 36,000 people and is autosomal dominant, but inherited in different penetrance. The VHL gene is located on the short arm of chromosome 3 (3p25.3). More than 1,500 different mutations in this gene have been identified in patients with VHL. At 20% of the persons concerned the abnormal gene seems to be a new mutation. VHL most commonly caused hemangioblastoma of the cerebellum and retinal angioma. Tumors, including pheochromocytomas and cysts (kidney, liver, pancreas or Genitaltrakt-) may occur in other organs. About 10% of people with VHL develop a endolymphatic tumor in the inner ear, which threatens the hearing. The risk of developing renal cell carcinoma increases with age, and the age of 60 years, the risk may be as high as 70%. Manifestations typically appear between the ages of 10-30 years, but sometimes earlier. Symptoms and signs Symptoms of VHL vary depending on the location of the tumor. Symptoms may include headache, dizziness, weakness, ataxia, blurred vision and hypertension. Retinal angiomas, which can be detected by a direct ophthalmoscopy, appear to be a dilated artery, which extends from the disc to a peripheral tumor with swollen veins. This Angioma are usually asymptomatic, but if they are centrally located and enlarged, they can lead to a significant loss of vision. These tumors increase the risk of retinal detachment, macular edema, and glaucoma. Untreated VHL can lead to blindness, brain damage or death. Life-threatening complications this disease is affecting the cerebellar hemangioblastoma or renal cell carcinoma. Diagnostic Direct ophthalmoscopy CNS imaging, typically MRI genetic testing Von Hippel-Lindau disease is diagnosed when the characteristic tumors are detected and one of the following criteria is met: More than one tumor in the brain or eye Single tumor in the brain or in the eye, and at another site in the body Family history of VHL and the presence of a tumor children who have a parent or sibling with the disease should be examined before the age of 5 years; The examination should include ophthalmoscopy and brain MRI to determine whether the diagnostic criteria are met. If a particular mutation of the VHL gene is identified in a patient, genetic tests should be performed to determine whether family members at risk also have the mutation. Treatment Surgery or possibly radiation therapy for retinal angiomas: laser photocoagulation or cryotherapy Regular monitoring Treatment often involves surgery to remove the tumor before it is malignant. Some tumors can be treated with high doses of focused radiation. Typically retinal angioma be treated with laser photocoagulation or cryotherapy to preserve vision. The use of propranolol to reduce the size of hemangiomas is currently under investigation. Investigation to find out complications and early treatment can improve the prognosis. Screening for complications if the diagnostic criteria for VHL are met, patients should be be examined regularly for complications of VHL, because early detection is the key to prevention of serious complications. The annual neurologic examination should include blood pressure monitoring, investigation of hearing, ophthalmoscopy and measurement of urine or plasma fractionated metanephrines (to test for pheochromocytoma). The formal audiological evaluation should be performed at least every 3 years. After the age of 16 years abdominal ultrasonography should be performed annually to check for kidney tumors; every 2 years should have a MRI of the brain and spinal cord successes to check for new CNS tumors or changes in existing tumors.

Health Life Media Team

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