From the Guidelines
Von Hippel-Lindau (VHL) disease management requires a multidisciplinary approach with regular surveillance, including MRI of the brain and spine every 1-2 years, annual eye examinations, abdominal imaging every 1-2 years, and blood and urine tests to check for hormone abnormalities, as recommended by the most recent guidelines 1.
Key Recommendations
- Genetic testing is essential for early diagnosis and should be performed in first-degree relatives of individuals with pathogenic variants in VHL, as well as any child diagnosed with VHL-related tumors or cysts 1.
- Ocular screening should begin within 12 months after birth and continue throughout life, with examinations approximately every 6-12 months until 30 years of age and then at least yearly thereafter 1.
- Treatment is directed at specific manifestations as they arise, often involving surgical removal of tumors when they reach certain sizes or cause symptoms, such as retinal hemangioblastomas which may be treated with laser photocoagulation or cryotherapy 1.
Important Considerations
- VHL disease is a rare genetic disorder characterized by the formation of tumors and cysts in multiple organs, caused by mutations in the VHL gene 1.
- Patients with VHL typically develop hemangioblastomas, renal cell carcinomas, pheochromocytomas, and cysts in the pancreas, kidneys, and other organs 1.
- Early diagnosis through genetic testing allows for timely surveillance and intervention, which significantly improves prognosis by catching complications before they become life-threatening 1.
Surveillance and Monitoring
- Regular surveillance is crucial to detect and manage VHL-related tumors and cysts, and should include MRI of the brain and spine, annual eye examinations, abdominal imaging, and blood and urine tests 1.
- The frequency and type of surveillance may vary depending on the individual's age, family history, and specific VHL-related manifestations 1.
From the Research
Overview of von Hippel-Lindau Disease
- von Hippel-Lindau (vHL) disease is a hereditary predisposition to multiple neoplasms, especially hemangioblastomas in the retina and CNS, renal cell carcinomas (RCC), pheochromocytomas, neuroendocrine pancreatic tumours (PNET) and endolymphatic sac tumours 2
- The disease is characterized by an increased risk of developing tumours in several organs or their systems, with the most common tumours being retinal or central nervous system hemangioblastomas (60-80%) and VHL-associated renal lesions 3
Diagnosis and Surveillance
- vHL can be diagnosed on clinical criteria, only; however, in most cases the diagnosis can be supported by identification of a pathogenic or likely pathogenic variant in VHL 2
- Surveillance should be initiated in childhood in persons with, or at risk of, vHL, and include regular examination of the retina, CNS, inner ear, kidneys, neuroendocrine glands, and pancreas 2
- Contrast-enhanced computer tomography (CECT) is the gold standard for the diagnosis and characterization of renal tumours 3
Treatment Options
- Treatment of vHL manifestations should be planned to optimize the chance of cure, without unnecessary sequelae, with most manifestations currently treated by surgery 2
- Belzutifan, that targets HIF-2α, was recently approved by the U.S. Food and Drug Administration (FDA) for adult patients with vHL-associated RCC, CNS hemangioblastomas, or PNETs, not requiring immediate surgery 2
- Nephron-sparing treatment techniques (cryotherapy, radiofrequency, or microwave ablation) are the best treatment option for VHL syndrome-caused renal tumours, which require imaging control 3
- Comprehensive treatment strategies, including sorafenib and tislelizumab, may benefit patients with VHL disease, especially with HB and ccRCC 4
Multidisciplinary Care
- Diagnostics, surveillance, and treatment of vHL can be undertaken successfully by experts collaborating in multidisciplinary teams 2
- A multidisciplinary integrated care pathway for specialists and allied health care professionals is essential in caring for individuals with von Hippel-Lindau (VHL) disease 5
- Clinical management of patients and families should optimally be offered as an interdisciplinary approach, with prophylactic screening programs being a cornerstone of care 6