Non-invasive assessment of liver fibrosis in C282Y homozygous HFE hemochromatosis

Liver Int. 2015 Jun;35(6):1731-8. doi: 10.1111/liv.12762. Epub 2015 Feb 4.

Abstract

Background & aims: C282Y homozygotes with serum ferritin (SF) levels >1000 μg/L and/or increased serum transaminase levels are at risk of severe F3/F4 fibrosis. Current practical guidelines recommend liver biopsy in such individuals. This prospective observational cohort study aimed to evaluate non-invasive alternative means such as hyaluronic acid (HA) and transient elastography (TE) for the assessment of severe fibrosis in patients with SF >1000 μg/L or elevated transaminases.

Methods: Between September 2005 and April 2013, 77 patients diagnosed C282Y homozygotes underwent a liver biopsy because of SF >1000 μg/L and/or increased transaminases according to current guidelines, with concomitant TE. All of them had clinical and biological evaluation, including HA measurement in 52 cases.

Results: A total of 19.5% of patients had F3-F4 severe fibrosis. HA was higher in patients with severe fibrosis, but did not accurately predict severe fibrosis. TE was significantly higher in patients with severe fibrosis (17.2 vs. 4.9 kPa; P < 0.05) and was able to accurately predict fibrosis stage in 47/61 (77%) patients with valid measurement using a lower threshold of 6.4 kPa and an upper threshold of 13.9 kPa. Efficient assessment of severe fibrosis was not possible in patients with intermediate TE values.

Conclusion: An algorithm that successively employed SF and TE can accurately classify severe fibrosis in 61% of patients, restricting the need for liver biopsy to the 39% of patients with intermediate or unvalid TE values. This algorithm should be validated in independent cohorts before extended use.

Keywords: cirrhosis; hyaluronic acid; liver fibrosis; serum ferritin; transient elastography.

Publication types

  • Observational Study

MeSH terms

  • Adult
  • Biopsy
  • Elasticity Imaging Techniques / methods*
  • Female
  • Ferritins / blood*
  • Hemochromatosis / complications*
  • Hemochromatosis / genetics
  • Homozygote
  • Humans
  • Hyaluronic Acid / blood
  • Liver / pathology*
  • Liver Cirrhosis / diagnosis*
  • Liver Cirrhosis / pathology
  • Male
  • Middle Aged
  • Mutation
  • Prospective Studies
  • ROC Curve
  • Transaminases / blood

Substances

  • Hyaluronic Acid
  • Ferritins
  • Transaminases