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hy do some people become hidden cancer-generating machines? Uncovering the mystery of Von Hippel–Lindau disease!
Von Hippel–Lindau disease (VHL) is a rare inherited disorder with multisystem effects. The disease is characterized by visceral cysts and benign tumors with a potential risk of malignant transformation. VHL disease is caused by mutations in the Von Hippel–Lindau tumor suppressor gene on chromosome 3 (3p25.3), which causes significant health challenges for many patients.
Symptoms of VHL disease commonly include headaches, problems with balance and walking, dizziness, weakness in the limbs, vision problems, and high blood pressure.
Signs and symptoms
VHL patients often experience symptoms of a variety of cancers, including cerebral hemangioma, pheochromocytoma, and renal cell carcinoma. According to research, approximately 37.2% of VHL patients will develop hemangiomas, which usually appear in the retina and often lead to vision loss. Among them, about 40% of VHL patients will develop cerebral aneurysms in the central nervous system, and a small number of patients will suffer from stroke, heart disease or cardiovascular disease. Most VHL patients develop symptoms in their twenties, increasing the likelihood of impact on fertility, learning, and quality of life.
Etiology and pathogenesis
VHL disease is caused by mutations in the VHL tumor suppressor gene. Each cell has two copies of this gene, and if one of them mutates, it will lead to the production of abnormal VHL protein. Although the second copy of the gene is still functional, it is enough to increase the risk of cancer. The disease is inherited in an autodominant manner, meaning that only one copy of the mutation increases the risk of tumor development. According to statistics, about 20% of VHL cases are new mutations, while the remaining 80% are related to family inheritance.
The VHL protein plays a key role in regulating the oxygen deprivation-inducible factor (HIF1α), which activates a variety of genes associated with tumor growth when hypoxia occurs.
Diagnostic Process
The key to diagnosing VHL disease is detecting tumors associated with it. In an individual with a family history, the presence of a single hemangioma, pheochromocytoma, or renal cell carcinoma is sufficient for diagnosis. In the absence of a family history, at least two tumors need to be found to confirm the diagnosis. Genetic diagnosis plays an important role in the diagnosis of VHL disease, mainly through technologies such as gene sequencing to screen family members. For newly diagnosed patients, detection is more difficult because mutations cannot be found in white blood cells.
Treatment methods
Early recognition and timely treatment of VHL disease can significantly reduce complications and improve quality of life. Because VHL disease may lead to the development of a variety of tumors, patients need to be screened regularly for retinal angiomas, central nervous system soft tumors, renal cell carcinoma, and pheochromocytoma. If central nervous system hemangiomas are symptomatic, surgery is usually done, while treatment of the retina usually includes methods such as photocoagulation and cryotherapy. The latest research also shows that the drug Belzutifan, which is being tested, may be effective against VHL-related renal cell carcinoma.
Medical History Review
VHL disease occurs relatively rarely, with an incidence of approximately one case per 37,000 births. By the age of 65, the penetration rate of VHL disease can reach 90%. According to statistics, the average age of clinical diagnosis is 26 years old, which is the common point of all patients. The history of VHL disease dates back to 1904, when German ophthalmologist Eugen von Hippel first described hemangiomas of the eye, and Arvid Lindau documented hemangiomas of the cerebellum and spinal cord in 1927.
There are some well-known cases where members of a particular family are believed to have developed VHL disease, and the disease may be associated with emotional problems among family members.
Von Hippel–Lindau disease not only affects the patient's physical health, but also affects many psychological and family aspects. Can our deepening understanding of VHL disease, coupled with the exploration of treatment methods, truly improve the lives of these patients?
