What is VHL syndrome?

Each disease has a different synonym. In addition to the common colds, eczema, and organ diseases in life, there are many diseases that we don’t know or understand. After appearing on the skin, familial and systemic syndromes will occur, which will have a great impact on the human body. VHL syndrome is also called renal cancer syndrome. This patient is born with the gene of the third infectious body. The development of organs throughout the body has potential tumors and cells, and the disease will occur after birth. There is no obvious scientific progress and research at present, and all of them need to be tested by medical institutions to know.

VHL is the abbreviation for von Hippel-Lindau syndrome, which is a familial kidney cancer syndrome.

In this syndrome, people are born with a mutation in a gene on chromosome 3. Patients with this gene mutation are susceptible to kidney cancer and are also prone to tumors of the eyes, brain, spinal cord, pancreas and adrenal glands, as shown in the table below.

Almost all of these tumors are characterized by a rich vascularity. Kidney tumors in VHL patients are almost always clear cell renal cell carcinomas. The age at which kidney tumors occur tends to be young, usually in the 20s or 30s, and many patients will develop more than one kidney tumor in their lifetime. The vast majority of these tumors are small and less invasive, but if allowed to grow, they may still metastasize to distant sites. In fact, kidney cancer is the most common cause of death in this syndrome, so it is particularly important to take kidney tumors seriously.

For this type of familial renal cancer, the current consensus among oncologists is that if the tumor grows to a size close to 3 cm, surgery or ablation (cryoablation or radiofrequency ablation) should be used to eliminate the tumor. Nephron-sparing surgery or other techniques can preserve as much kidney function as possible, freeing patients from the pain of dialysis. VHL is inherited in an autosomal dominant manner, meaning that half of the children of the patient will inherit the mutated gene and eventually develop the disease. Most VHL patients have familial kidney cancer, brain tumors, eye tumors, etc.

Therefore, once this syndrome is suspected, the patient needs to be evaluated for all possible manifestations of VHL, including CT or MRI, examination of the brain and spinal cord, and consultation with an ophthalmologist. Genetic testing should also be considered, and all family members should be informed that they are at similar risk and need to be evaluated early.