9th June 2025

Von Hippel- Lindau syndrome

Von Hippel-Lindau (VHL) is an autosomal dominant inherited neoplastic disease occurring in approximately 1 in 360000 live births.

Clinical features

Patients typically present in their 20s with haemangioblastomas typically limited to the head and neck region:

• Central Nervous System haemangioblastomas (presents with symptoms pertaining to cord compression)
• Retinal angiomas (most common feature of VHL). Diagnosis usually confirmed following fluorescein staining (lesions show hyper-fluorescence) 
• Renal Cell Carcinomas 
• Phaeochromocytoma 
• Café au lait spots