Definition
- Inherited
- Autosomal-dominant syndrome
- Occurs due to germline pathogenic variants in the VHL gene.
- VHL disease is characterized by a variety of benign and malignant tumors, which include:
Manifestations
Clinical presenations
- Usually present with multiple tumors at a young age
Diagnosis
- Germline mutations in VHL gene
Surveillance
- Retinal capillary hemangioblastomas
- Retinal - before age 1, Every 6-12 months
- Pheochromocytomas
- Bloods pressure - age 2, every year
- Metanephrines, age 5, every year
- CNS hemangioblastoma
- MRI brain, age 11, every 2 years
- Intra-abdominal lesions (panc, renal, adrenal)
- MRI abodmen, age 15, every 2 years