title: Benefits of screening in von Hippel-Lindau disease--comparison of morbidity associated with initial tumours in affected parents and children.
abstract: Von Hippel-Lindau (VHL) is a rare autosomal dominant syndrome characterised by the association of retinal and CNS haemangioblastomas, phaeochromocytoma and renal cell carcinoma. If a child of an affected parent has inherited a VHL mutation or the parent's mutation cannot be identified, then clinical screening is recommended. We report the clinical features in three parent-offspring pairs where the parents have presented clinically with renal cell carcinoma, phaeochromocytoma, cerebellar haemangioblastoma and retinal haemangioma, and the children have undergone pre-symptomatic screening. During the first screening a 13-year-old boy was diagnosed with bilateral phaeochromocytoma and later developed an endolymphatic sac tumour at 19 years. A right phaeochromocytoma was found in a 12-year-old girl who was screened from the age of 4 years and in a 13-year-old boy screened from 5 years of age. All children were asymptomatic at the time of diagnosis. These families demonstrate that clinical screening of children at risk of VHL can detect tumours before the first symptoms arise with a consequent reduction in morbidity. These observations strongly support the recommendation to undertake screening of the children of VHL patients.
authors.affiliation: Department of Endocrinology, Barts and The London NHS Trust, London, UK.
authors.forename: M
authors.initials: M
authors.lastname: Priesemann
authors.forename: K M
authors.initials: KM
authors.lastname: Davies
authors.forename: L A
authors.initials: LA
authors.lastname: Perry
authors.forename: W M
authors.initials: WM
authors.lastname: Drake
authors.forename: S L
authors.initials: SL
authors.lastname: Chew
authors.forename: J P
authors.initials: JP
authors.lastname: Monson
authors.forename: M O
authors.initials: MO
authors.lastname: Savage
authors.forename: L B
authors.initials: LB
authors.lastname: Johnston
mesh_terms: D000293:Adolescent; D000310:Adrenal Gland Neoplasms / Q000175:diagnosis / Q000235:genetics; D002292:Carcinoma, Renal Cell / Q000175:diagnosis / Q000235:genetics; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D007680:Kidney Neoplasms / Q000175:diagnosis / Q000235:genetics; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D009017:Morbidity; D010375:Pedigree; D010673:Pheochromocytoma / Q000175:diagnosis / Q000235:genetics; D006623:von Hippel-Lindau Disease / Q000175:diagnosis* / Q000235:genetics*