Background:
Von Hippel-Lindau is a rare autosomal dominant predisposition to renal cell carcinoma, haemangioblastoma of the cerebellum, spine and retina, phaeochromocytoma and endolymphatic sac tumours. The life expectancy for VHL carriers is significantly reduced, mean 52.5 years. Mortality in VHL is related to complications from cerebellar haemangioblastoma, metastatic renal cell carcinoma and phaeochromocytoma. Major morbidity is related to vision and hearing loss and CNS complications.
Familial Paraganglioma-Phaeochromocytoma Predisposition Syndromes are caused by a mutation in the SDH gene (A, B, C, D, AF2). Individuals with an SDH mutation have a predisposition to phaeochromocytoma, paraganglioma, renal cell carcinoma, Gastrointestinal stromal cell tumour (GIST) and thyroid cancer.
Aim: To assess the detection rate and costs of screening in VHL carriers.
Method: Retrospective analysis of 28 VHL carriers and 26 SDH carriers. The VHL and SDH mutation carriers underwent screening between 1993-2015 at the Prince of Wales and St George Hospitals.
Results:
VHL: 284 person years of screening for 28 VHL carriers
• 7 developed RCC, 4 with metachronous RCC’s.
• 31 individuals were found to have CNS haemangioblastomas. 11 underwent one or multiple surgeries.
• 17 individuals had 0-12 retinal haemangioblastomas treated with laser photocoagulation.
• All patients over the age of 18 have VHL manifestations. 4 unaffected carriers were <15yrs
SDH: 132 person years of screening for 26 SDH carriers
• SDH manifestations in 5/26 patients, who were identified with paraganglioma. 3 /5 affected carriers were probands.
The cost of screening for a VHL carrier is $1597.20 and $1445.25 for an SDH carrier.
Conclusion:
Screening with MRI and plasma metanephrines are effective strategies for reducing the morbidity and mortality associated with VHL and SDH disease.
The cost of screening is acceptable.