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ASSESSMENT OF SILENT LIVER INJURY IN HEMOCHROMATOSIS C282Y HOMOZYGOTES WITH NORMAL TRANSAMINASES

PC Adams
University Hospital, London, Ontario

BACKGROUND: Population screening studies for hemochromatosis have demonstrated an increase in liver disease in C282Y homozygotes but many participants have no biochemical or clinical evidence of liver dysfunction. Previous studies have suggested that liver fibrosis in hemochromatosis may be silent.
Objectives: To assess the degree of liver injury in referred C282Y homozygotes that underwent elective liver biopsy and had a serum AST and ALT < 40 IU/L.
METHODS: All C282Y homozygotes that underwent liver biopsy with normal AST and ALT were included in this study. Data is expressed as mean (range).
RESULTS:
                                    

n	51
Gender	35 men, 15 women
Age (years)	51 (16 – 89)
TS (%)	65 (14 – 97))
Serum ferritin (ug/L)	637 (18 - 2062)
Liver iron (umol/g) (n < 36)	131 (11 - 386)
No fibrosis (F0)	42 / 51 (82 %)
Liver fibrosis (F1-F3)	6 /51 (12 %)
Cirrhosis (F4)	3 / 51 ( 6 %)

 One of the patients with cirrhosis had a history of alcohol abuse.
CONCLUSIONS: Silent liver injury with normal transaminases is seen in 18 % of referred C282Y homozygotes. This observation needs to be considered when assessing the clinical consequences of iron overload. Studies which have reported on biochemical liver dysfunction in hemochromatosis may have under-estimated the prevalence of liver injury from iron overload. Advances in imaging and hepatic elastography may aid in the assessment of hepatic injury in C282Y homozygotes with normal liver enzymes in the future.

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