PT  - JOURNAL ARTICLE
AU  - Green, J. S.
AU  - Bowmer, M. I.
AU  - Johnson, G. J.
TI  - Von Hippel-Lindau disease in a Newfoundland kindred
DP  - 1986 Jan 15
TA  - Canadian Medical Association Journal
PG  - 133--138
VI  - 134
IP  - 2
4099  - http://www.cmaj.ca/content/134/2/133.short
4100  - http://www.cmaj.ca/content/134/2/133.full
SO  - CMAJ1986 Jan 15; 134
AB  - Von Hippel-Lindau disease, an autosomal dominant condition with complete penetrance, has been recognized in a large family that originated in Newfoundland but has some members who live in New Brunswick and Ontario. A collaborative investigation was begun in 1982 to document the number of affected members and the extent of their disease and to improve management of the disease. The condition has been documented in 38 members of the family, 28 living and 10 dead. The most common manifestations are retinal angioma (present in 60% of the gene carriers) and pheochromocytoma (present in 53%). Of the 28 living affected members 14 had been identified before the study began. Only 3 of the 14 patients in whom the disease was subsequently diagnosed presented with symptoms; in the remaining 11 the condition was detected by routine screening. Overall the mean age at the time of diagnosis was 23 years; in the 21 affected members of the fourth generation it was 18 years. The authors outline a regimen of regular screening for members at risk that has evolved as a result of their experience with this family.