Purpose: To study the clinical outcomes of subjects who are homozygous for the C282Y mutation of the hemochromatosis gene. Subjects and Methods: All patients referred to a tertiary referral centre for hemochromatosis were included. The study also included 16 C282Y homozygotes detected in a population screening study. Results: The study comprised 277 C282Y homozygotes, including 16 nonexpressing C282Y homozygotes. The mean follow-up period was 7.3 years (range zero to 44 years). The actuarial survival rates of C282Y homozygotes at five, 10 and 20 years were 95%, 93% and 66%, respectively. Life-threatening diseases (cirrhosis, hepatocellular carcinoma, diabetes, heart disease) were present in 36% of male C282Y homozygotes and 19% of female C282Y homozygotes. Cirrhosis of the liver and diabetes were the major clinical symptoms affecting long term survival. Only one nonexpressing homozygote required venesection therapy during the follow-up period. Conclusions: Long term survival is excellent in C282Y homozygotes diagnosed and treated before the development of cirrhosis and diabetes.
CITATION STYLE
Wojcik, J. P., Speechley, M. R., Kertesz, A. E., Chakrabarti, S., & Adams, P. C. (2002). Natural history of C282Y homozygotes for hemochromatosis. Canadian Journal of Gastroenterology, 16(5), 297–302. https://doi.org/10.1155/2002/161569
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