Von Hippel-Lindau (VHL) syndrome is a rare inherited disorder that leads to the formation of tumors and fluid-filled cysts in multiple parts of the body. These growths can be either benign (noncancerous) or malignant (cancerous), and their effects vary depending on where they develop. Although symptoms can appear at any age, they most commonly begin in adolescence or early adulthood. Early signs may include headaches, vision problems, or high blood pressure, depending on the organs involved.
VHL syndrome results from a mutation or deletion in the VHL gene located on chromosome 3p25. This gene normally acts as a tumor suppressor, helping regulate cell growth and the formation of blood vessels. When the gene is defective, cells can multiply uncontrollably and form abnormal growths. The disorder follows an autosomal dominant inheritance pattern—meaning that if one parent carries the mutated gene, each child has a 50% chance of inheriting the condition. However, up to 20% of cases arise from new, spontaneous mutations in individuals with no family history of the disorder.
People with VHL are at higher risk of developing tumors in blood vessel–rich areas such as the brain, spinal cord, retina, and inner ear. These can cause neurological problems, vision loss, or hearing impairment if left untreated. Tumors may also occur in internal organs, particularly the kidneys, pancreas, and adrenal glands. Kidney cancer—especially clear cell renal cell carcinoma—is the most common malignant tumor associated with VHL, affecting about 40% of individuals. Pancreatic neuroendocrine tumors and cysts in the pancreas or kidneys are also common findings.
The age of diagnosis varies widely, typically between 12 and 50 years old. Because VHL affects many organs, lifelong monitoring through imaging and regular medical evaluations is crucial. Treatment focuses on early detection, surgical removal of tumors, and management of cysts to prevent complications. With advances in genetic testing, early diagnosis and proactive care have significantly improved outcomes and quality of life for individuals living with von Hippel-Lindau syndrome.Von Hippel-Lindau (VHL) Syndrome
