Transient Elastography, Fib4 and APRI for the diagnosis of liver fibrosis in HFE hemochromatosis

Background:

Current EASL guidelines recommend screening for liver fibrosis in all HFE hemochromatosis (HH) patients at diagnosis. Limited evidence exists comparing transient elastography (TE), Fib-4, and APRI to liver biopsy in this context. Our study aimed to evaluate their performance.

 

Method:

We included HH patients (2005-2023) who underwent both liver biopsy and TE within a year of diagnosis. Patients with TE>7.1kPa and IQR>0.3 were excluded. Diagnostic performance of TE, Fib-4, and APRI was assessed using ROC curves for severe liver fibrosis (Metavir F3F4).

 

Results:

A total of 127 patients (81.9% male, age 49.5±11.3) were included. Diabetes and excessive alcohol consumption were present in 10.2% and 7.9%, respectively. Ferritin levels were 1508µg/L±1321, and transferrin saturation was 85%±14.6. Fibrosis stage prevalence was F0F1=48.1%, F2=25.2%, F3=7.9%, and F4=18.9%. Mean TE was 9.8kPa±8.8. AUC for severe fibrosis diagnosis by ferritin, TE, Fib-4, and APRI were 0.92(0.86-0.96), 0.94(0.88-0.97), 0.85(0.77-0.91), and 0.83(0.75-0.90) respectively.

Cutoff value with 90% sensitivity were ferritin:1853µg/L, TE:8.6kPa, Fib-4:1.18, and APRI:0.53.

Cutoff value with 90% specificity were ferritin:2224µg/L, TE:9.9kPa, Fib-4:2.04, and APRI:0.87.

Combining ferritin and TE criteria resulted in correct classification of 82(64%) patients, without false negatives/positives. However, 32(25%) had discrepant results, and 12(9%) were in the intermediate zone requiring liver biopsy.

 

Conclusion: 

Our findings suggest that APRI and Fib-4 have lower performance compared to ferritin and TE in HH patients. We propose TE cutoffs of 8.6kPa to rule out severe fibrosis and 9.9kPa to confirm it. Overall, combining non-invasive tests significantly reduce the need for liver biopsy in HH patients.