New Guidelines for Screening and Treating von Hippel–Lindau Disease Are Available

Von Hippel–Lindau (VHL) disease is a rare, life-threatening genetic condition that affects multiple body systems, and is characterized by tumors of the retina. As part of a wider initiative, the International VHL Surveillance Guidelines Consortium has now developed evidence-based surveillance guidelines for the screening and early treatment of patients with VHL disease.

Study Design

The ophthalmology subcommittee of the VHL Consortium performed a systematic literature review by grading evidence according to topic quality and relevance. After reviewing all available literature, recommendations were developed and graded based on the type (I–IV) and strength (A–D) of available evidence and the degree of consensus among panelists.

Outcomes

Genetic testing for pathologic VHL disease gene variants is recommended in individuals at risk of developing VHL disease. For those with known or suspected VHL disease, ocular screening should start at 12 months of age and continue every 6–12 months thereafter until year 30, when screenings can be performed yearly. Screening should also be conducted prior to any planned pregnancies and every 6–12 months while a woman remains pregnant. If possible, patients should be managed by ophthalmologists with experience in treating VHL disease or retinal hemangioblastoma (RH). Early treatment of extramacular or extrapapillary RHs, even when small, should be considered. Finally, ultra-widefield (UWF) color fundus photography, particularly UWF fluorescein angiography, may be useful for detecting and monitoring RHs.

Limitations

The quality of the underlying evidence was limited, as there were no controlled clinical trial data (evidence type I). With only observational studies available (evidence type III or IV), strength ratings were no better than grade C or D.

Clinical Significance

This consensus set of guidelines, representing broad agreement on a new strategy for continued monitoring and early treatment of ocular VHL disease, is a valuable reference for ophthalmologists caring for patients with VHL. Early identification and prompt treatment of extramacular or extrapapillary RHs is essential due to the morbidity caused by larger RHs and the limited treatment options for advanced VHL disease. Adoption of these recommendations can promote high-quality, universal, and standardized care for patients with this rare condition.

Financial Disclosures: Dr. Maya Eiger-Moscovich discloses no financial relationships. Dr. Jagger Koerner discloses no financial relationships.