DNA-based HFE gene testing confirms hereditary hemochromatosis in most people of Northern European descent. However, liver biopsy is needed to detect cirrhosis.
In this study, researchers from the United States developed noninvasive criteria to predict advanced hepatic fibrosis or cirrhosis in patients with hemochromatosis.
|Cirrhosis was present in 22% of patients.|
|Annals of Internal Medicine|
The team assessed 182 patients with phenotypically defined hemochromatosis.
They measured liver histopathology and serum ferritin, aspartate aminotransferase, and alanine aminotransferase levels.
They also used multivariate logistic regression analysis to examine factors associated with cirrhosis.
The team found that cirrhosis was present in 22% of patients in the overall group and in 24% of C282Y homozygotes.
However, only 1% of patients with a serum ferritin level < 1000 g/l had cirrhosis compared with 44% of patients with serum ferritin levels > 1000 g/l. In addition, no C282Y homozygotes, or C282Y/H63D compound heterozygotes, with serum ferritin levels < 1000 g/l had cirrhosis.
The team also found that elevated serum aminotransferase levels and serum ferritin levels > 1000 g/l were independently associated with cirrhosis.
Using multivariate analysis the team determined that the probability of cirrhosis was 7% among patients with serum ferritin levels < 1000 g/l. This compared with 72% among patients with serum ferritin levels > 1000 g/l, once the team adjusted data
for age and elevated serum liver enzyme levels.
Dr Elizabeth Morrison's team concluded, "Patients with hemochromatosis and serum ferritin levels less than 1000 g/l are unlikely to have cirrhosis".
"Liver biopsy to screen for cirrhosis may be unnecessary in such patients, regardless of age or serum liver enzyme levels".