Background-A large number of monozygotic and dizygotic twin pairs with
inflammatory bowel disease have been reported. To date no twin pair h
as developed phenotypically discordant inflammatory bowel disease. Thi
s case report is the first documented occurrence of discordant inflamm
atory bowel disease occurring in monozygotic twins. Case report-Twenty
two year old identical male twins presented within three months of ea
ch other with inflammatory bowel disease that proved to be discordant
in overall disease type, disease distribution, clinical course, and hi
stopathological findings. Twin 1 developed a severe pancolitis necessi
tating total colectomy while twin 2 developed a predominantly distal p
atchy colitis with frequent granulomas, controlled by aminosalicylates
. Twin 1 was antineutrophil cytoplasmic antibody (ANCA) negative at th
e time of testing while twin 2 (Crohn's disease) was ANCA positive. Si
gnificantly, the twins possessed the HLA type DR3-DR52-DQ2 previously
associated with extensive colitis. Conclusion-This case report confirm
s the important role played by genetic factors in the development of i
nflammatory bowel disease. It also highlights the crucial role of unde
termined environmental agents in dictating disease expression and phen
otype.