Von Hippel-Lindau disease is a rare hereditary tumor disease, whereby the tumors are mostly benign. Although the disease is congenital, it remains completely asymptomatic in the first few years of life.
Below you will find further information and selected specialists for Von Hippel-Lindau syndrome.
Von Hippel-Lindau syndrome (VHL) is a hereditary tumor disease. The tumors are mostly benign, but can also be malignant in the kidney area. The name was given by the Göttingen ophthalmologist von Hippel, who first described the tumors in the eye in 1904, and the Swedish pathologist Lindau, who described the tumors in the spinal cord in 1926.
The cause of the disease is a mutation of the von Hippel-Lindau gene on chromosome 3. This gene codes for the von Hippel-Lindau protein which, in cooperation with other proteins, suppresses the breakdown of incorrectly folded or no longer required proteins and thus the development of tumors. The genetic defect cancels out the tumor-suppressing effect of the Von Hippel-Lindau protein and the tumor rate in the various organs is increased.
Von Hippel-Lindau disease (VHL) is a rare disease. As it is inherited, it occurs more frequently in families. The predisposition for this disease is passed on to 50 % of children.
Principle of autosomal dominant inheritance
Those affected by Hippel-Lindau disease show changes in several organs. These are benign vascular tumors in the brain, in the choroid of the eye and in the spinal cord. In addition, kidney cysts, kidney cancer, adrenal gland tumors, cysts in the pancreas and benign tumors in the inner ear, epididymis and the broad ligaments can occur.
The diagnosis is made in a center specializing in Von Hippel-Lindau disease. In addition to imaging of the organs mentioned, it also includes molecular genetic diagnostics and genetic counseling for patients.
In the first few years of life, all people with Von Hippel-Lindau syndrome show no symptoms. Signs of the disease only appear later in life, usually for the first time between the ages of 15 and 35. The symptoms are varied and depend on the location and size of the tumor.
The tumors of the brain are mainly located in the cerebellum and cause headaches, nausea, vomiting, dizziness, unsteady standing and walking. Eye tumors usually remain asymptomatic until blindness suddenly sets in due to retinal detachment. If the tumors are located in the spinal cord, back pain and sensory disturbances in the back can occur.Tumors of the epididymis and the broad ligaments are benign tumors and rarely cause symptoms. However, these tumors can lead to obstruction of the seminal ducts. The consequence would be inability to conceive. The inner ear tumors are also benign tumors. They cause hearing loss and ringing in the ears.
Tumors and cystscan occur on the kidney. Kidney cysts are harmless and usually cause no symptoms. In rare cases, however, these cysts can cause high blood pressure.
In contrast to the vascular tumors of the brain, spinal cord and eye, kidney tumors are malignant. In most cases, they also grow without causing symptoms. Symptoms usually only occur after the appearance of metastases. Cysts in the pancreas usually do not cause any symptoms.
Adrenal tumors produce stress hormones. Patients therefore usually develop high blood pressure combined with pain, sweating and pallor. These symptoms can occur permanently or in attacks.
A cure for Von Hippel-Lindau disease is not possible, as the cause lies in the body's own genes. However, the various tumors can be treated very well. Medical care should be provided by a doctor who specializes in Von Hippel-Lindau disease.
In the brain and spinal cord, this is done by means of a neurosurgical operation. The operation should take place at a time when the patient is not yet showing any symptoms. The operation must be performed using a tissue-sparing microsurgical technique. Alternatively, treatment can be carried out using radiation if the tumour is unfavorably localized and the surgical approach is particularly risky.
Tumors of the cervical ligaments are usually left as they are. Tumors of the epididymis can be surgically removed if symptoms occur.
Tumors on the kidney are malignant and must be operated on. As the tumors can recur elsewhere in the kidney even after removal, very gentle surgical treatment must be carried out without removing the kidneys completely. This requires special experience. The operation should only be performed at a center where this procedure is performed frequently. Under certain circumstances, the tumors can be so diverse and so large that both kidneys can no longer be preserved. Lifelong dialysis treatment is then necessary.
Adrenal tumors must always be surgically removed as they can cause considerable problems. This is usually done using a minimally invasive procedure. If possible, the operation should be performed in an organ-preserving manner, as adrenal tumors can occur on both sides and removing both adrenal glands would lead to adrenal insufficiency and lifelong medication.
Patients with Von Hippel-Lindau syndrome should join the Von Hippel-Lindau disease self-help group (http://www.hippel-lindau.de).
Furthermore, lifelong medical support is necessary, which, in addition to medical check-ups, is also helpful with family planning and insurance issues.
