Von Hippel-Lindau disease is a rare hereditary tumor disorder, although the tumors are usually benign. Although the disease is congenital, it remains completely asymptomatic during the first years of life.
Below you will find further information as well as a list of selected specialists for von Hippel-Lindau syndrome.
What is Von Hippel-Lindau syndrome (VHL)?
Von Hippel-Lindau syndrome (VHL) is an inherited tumor disorder. The tumors are usually benign, but can also be malignant when they occur in the kidney.
The syndrome was named by the ophthalmologist von Hippel (1904) and the pathologist Lindau (1926).
The disease is caused by a mutation in the von Hippel-Lindau gene on chromosome 3.
This gene encodes the von Hippel-Lindau protein, which, together with other proteins, suppresses the breakdown of misfolded or no-longer-needed proteins. This promotes the development of tumors.
The genetic defect negates the tumor-suppressing effect of the von Hippel-Lindau protein, leading to an increased incidence of tumors in various organs.
Von Hippel-Lindau disease (VHL) is a rare disorder. Because it is hereditary, it tends to run in families. The predisposition to this disorder is passed on to 50% of children.
Principle of autosomal dominant inheritance @ Armin Kübelbeck
Individuals affected by von Hippel-Lindau disease exhibit abnormalities in multiple organs.
These are benign vascular tumors that occur in the following structures:
- Brain
- the choroid of the eye, and
- Spinal cord
In addition, the following symptoms may occur:
- Kidney cysts
- Kidney cancer
- Adrenal tumors
- Cysts in the pancreas and
- benign tumors of the inner ear, epididymis, and broad ligaments
Diagnosis is made at a center specializing in von Hippel-Lindau disease.
In addition to imaging of the aforementioned organs, the diagnosis also includes molecular genetic testing and genetic counseling for patients.
Symptoms of the disease
In the first years of life, all individuals with von Hippel-Lindau syndrome are asymptomatic.
Signs of the disease do not appear until 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.
Brain tumors are primarily located in the cerebellum and cause:
- Headaches
- Nausea
- Vomiting
- Dizziness
- Unsteadiness when standing or walking
Eye tumors usually cause no symptoms until blindness suddenly sets in due to a retinal detachment.
If the tumors are located in the spinal cord, back pain and sensory disturbances in the back may occur.
Tumors of the epididymis and the broad ligaments are benign and rarely cause symptoms. However, these tumors can lead to obstruction of the spermatic ducts, which would result in infertility.
Tumors of the inner ear are also benign. They cause hearing loss and tinnitus.
Tumors and cysts can occur in the kidneys. Kidney cysts are harmless and usually do not cause any symptoms. In rare cases, however, these cysts can cause high blood pressure.
Unlike vascular tumors of the brain, spinal cord, and eye, kidney tumors are malignant. In most cases, they also grow without causing any symptoms.
Symptoms usually do not appear until metastases develop. Cysts in the pancreas usually do not cause any symptoms.
Adrenal tumors produce stress hormones. As a result, patients usually develop high blood pressure accompanied by:
- pain
- sweating, and
- Paleness
These symptoms may be persistent or occur in episodes.
Treatment of von Hippel-Lindau disease
There is no cure for von Hippel-Lindau disease, as the cause lies in the body’s own genes.
However, the various tumors can be treated very effectively. Medical care should be provided by a doctor who specializes in von Hippel-Lindau disease.
Surgery on the brain and spinal cord is performed by a neurosurgeon. The surgery should take place before the patient develops any symptoms.
The surgery must be performed using a tissue-sparing microsurgical technique.
Alternatively, treatment can be performed using radiation therapy if the tumor is in an unfavorable location and surgical access is high-risk.
Doctors usually leave tumors of the round ligaments in place. For tumors of the epididymis, surgical removal may be performed if symptoms occur.
Tumors on the kidney are malignant and require surgery. Tumors can recur elsewhere in the kidney after removal. Therefore, the surgery must be performed sparingly without completely removing the kidney.
This requires specialized expertise. The surgery should only be performed at a center where this procedure is routinely performed.
Sometimes tumors can be so varied and large that both kidneys can no longer be preserved. In such cases, lifelong dialysis treatment is necessary.
Since adrenal tumors can cause significant problems, doctors must always remove them surgically.
This is usually done using minimally invasive techniques. Whenever possible, the surgery should be organ-preserving, as adrenal tumors can occur on both sides. Removing both adrenal glands would lead to adrenal insufficiency, requiring lifelong medication.
After surgery
Patients with von Hippel-Lindau syndrome should join the von Hippel-Lindau Disease support group (http://www.hippel-lindau.de).
Lifelong medical care is necessary. It provides support with preventive screenings, family planning, and insurance matters.
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