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If left untreated, Von Hippel Lindau Syndrome can lead to blindness, brain damage or, more importantly, death. The cause of death is usually complications of polycystic hemangioma or renal cell carcinoma.
1. What is Von Hippel-Lindau disease?
von Hippel Lindau disease (VHL), also known as von Hippel Lindau syndrome, is a type of disease that is inherited in an autosomal dominant manner. von Hippel Lindau's disease is a rare disease but it can affect many organs of the body such as brain, pancreas, liver, kidney, eyes... and it can progress from benign to malignant. depending on the cases.
The main cause of Von Hippel Lindau syndrome is a genetic disorder, which means that the risk of developing the disease and other features of the disease is passed on from generation to generation. The gene that causes this syndrome is the VHL gene. A mutation in the VHL gene puts a person at increased risk of developing kidney cancer as well as other symptoms of Von Hippel Lindau syndrome. Most people with this syndrome have a well-recognized VHL gene mutation.
However, about 20% of cases of Von Hippel Lindau disease have no family history. Therefore, depending on the location of the mutated gene, the types as well as the associated lesions such as kidney cancer, polycythemia vera or adrenal myeloma. This case is called De novo mutation.
2. Signs and Symptoms of Von Hippel Lindau's Disease
Von Hippel Lindau syndrome is characterized by an increased risk of developing the following tumors:
Angioblastoma (usually benign) of the brain and spine; Retinal hemangioma; External or intra-adrenal myeloma; Renal cell carcinoma (renal cancerous tumor). In rarer cases, a person will develop an intra-lymphatic sac tumor, pancreatic tumor, broad ligament, or epididymal cyst. Other manifestations include pancreatic and renal cysts.
Is a rare disease but if Von Hippel Lindau Syndrome is not treated, it can lead to blindness, brain damage or more dangerously, death. The cause of death is usually complications of polycystic hemangioma or renal cell carcinoma.
Therefore, if the patient has multiple hemangioblastomas of the brain, spinal cord, eyes or has renal cell carcinoma, pancreatic cyst, adrenal medulloblastoma, there is an hemangioblastoma and cystic tumor. along with intraepithelial neoplasia or epididymal cyst may be a sign of Von Hippel Lindau Syndrome.
Besides, for young people, doctors can diagnose Von Hippel Lindau disease if there are obvious signs and symptoms of bilateral renal cell carcinoma. If you have a family history of the syndrome, your doctor may order tests to check for a mutation in the VHL gene.
Là một bệnh hiếm gặp nhưng nếu Hội chứng Von Hippel Lindau không được điều trị thì có thể dẫn đến chứng mù lòa
3. Treatment modalities for kidney cancer associated with Von Hippel-Lindau syndrome
In people with Von Hippel-Lindau syndrome, about 40% of cases develop kidney cancer. Therefore, an appropriate treatment is required. Most treatments for kidney cancer associated with Von Hippel-Lindau syndrome will be similar whether or not a person has Von Hippel-Lindau syndrome. However, most doctors will recommend surgery for kidney cancer with Von Hippel Lindau syndrome if the tumor is 3cm or larger.
The most important part of surgery is to preserve kidney function with the aim of preventing as well as delaying dialysis. In addition, during surgery, the doctor will try to save as much of the kidney as possible and remove the kidney tumor. And if the tumors reach a certain size or cause uncomfortable symptoms for the patient, the doctor also recommends surgery for tumors in other organs.
4. Screening measures for Von Hippel Lindau's syndrome
Von Hippel Lindau syndrome can be screened, some of the following measures can help you early this syndrome such as:
Routine eye exams to screen for retinal hemangiomas, periodic hearing assessment and routine physical examination can help detect Von Hippel Lindau syndrome; Annual blood tests or urine tests to screen for elevated catecholamines, which help screen for this syndrome; In addition to the methods above, you may have periodic abdominal ultrasounds to check your baby's kidneys, pancreas, and adrenal glands. As for adults, the doctor will change the method of screening for Von Hippel Lindau syndrome to computed tomography (CT or CAT) or MRI. However, the time to screen for Von Hippel Lindau syndrome depends on tumor growth rate as well as the presence of symptoms for the doctor to adjust accordingly.
To improve the effectiveness of treatment, patients need to go to a reputable hospital to conduct an examination as soon as there are signs of Von Hippel Lindau disease. Currently, Vinmec International General Hospital is one of the leading prestigious hospitals in the country, trusted by a large number of patients for medical examination and treatment. Not only the physical system, modern equipment: 6 ultrasound rooms, 4 DR X-ray rooms (1 full-axis machine, 1 light machine, 1 general machine and 1 mammography machine) , 2 DR portable X-ray machines, 2 multi-row CT scanner rooms (1 128 rows and 1 16 arrays), 2 Magnetic resonance imaging rooms (1 3 Tesla and 1 1.5 Tesla), 1 room for 2 levels of interventional angiography and 1 room to measure bone mineral density.... Vinmec is also the place to gather a team of experienced doctors and nurses who will greatly assist in diagnosis and detection. early signs of abnormality in the patient's body. In particular, with a space designed according to 5-star hotel standards, Vinmec ensures to bring the patient the most comfort, friendliness and peace of mind.
Please dial HOTLINE for more information or register for an appointment HERE. Download MyVinmec app to make appointments faster and to manage your bookings easily.
