From Silence to Diagnosis: Non-Invasive Detection of Liver Fibrosis in Adults with Inborn Errors of Immunity

Liver involvement is an underrecognized yet clinically relevant complication in adult patients with inborn errors of immunity (IEIs). Early identification of hepatic fibrosis is essential for timely intervention and prevention of long-term liver damage. This study aimed to evaluate liver stiffness using transient elastography (TE) in adult patients with IEIs, investigate correlations with biochemical parameters, and determine the diagnostic performance and optimal cut-off values of three non-invasive fibrosis scoring systems: the Aspartate Aminotransferase-to-Platelet Ratio Index (APRI), the Fibrosis-4 Index (FIB-4), and the Nonalcoholic Fatty Liver Disease Fibrosis Score (NFS). A cohort of 41 adult patients with confirmed IEIs underwent liver stiffness measurement (LSM) using a FibroScan device. Correlation analyses were performed between LSM, serum liver enzymes, and imaging findings. Receiver operating characteristic (ROC) curve analyses were conducted to assess the diagnostic performance of APRI, FIB-4, and NFS in detecting significant fibrosis (≥ F2) and to establish optimal cut-off values. Significant correlations were identified between LSM and serum levels of some liver enzymes. The three scores showed diagnostic accuracy, with area under the curve (AUC) values of 0.647 (APRI), 0.665 (FIB-4), and 0.684 (NFS). Optimal cut-off values were identified as 0.4 for APRI, 1.48 for FIB-4, and − 1.05 for NFS. In patients with IEIs, the integration of transient elastography and serum fibrosis scores may provide a reliable, non-invasive method for early liver disease assessment. This is the first study to propose clinically relevant cut-off thresholds for these scoring systems in this specific population. Larger, prospective studies are warranted for validation.