FROM EXPERT REVIEW OF MOLECULAR DIAGNOSTICS
Standardization of liver diagnostic serology and clinical governance will improve understanding and diagnosis of primary biliary cholangitis (PBC), as will new biomarkers, according to a literature review from Nikolaos Gatselis, MD, PhD, and George Dalekos, MD, PhD, of the University of Thessaly, Greece.
Antimitochondrial antibodies are the most important diagnostic tool for the diagnosis of PBC, as AMA is seen in 90%-95% of patients with PBC. Indirect immunofluorescence assays using HEp-2 cells or cryostat sections of rat liver, kidney, and stomach remain the best way to detect AMA, but since the indirect immunofluorescence process cannot be fully automated, further analysis can be performed by immunoblotting. PBC-specific antinuclear antibodies are seen in 50%-70% of PBC cases, and are also important for the diagnosis of PBC.
Several new biomarkers have been proposed for improved diagnosis of PBC in recent years. The biomarkers include the autoantibodies KLHL12 and HK1, genetic markers in HLA regions, metabolomic profiling, miRNAs, and epigenetics.
“Development of clinical governance is of great importance in order to ensure that clinical standards are met, and that processes are in place to ensure continuing improvement and harmonization between laboratories. The guidance should include the whole testing process, beginning from the formulation of a reasonable clinical suspicion and the request of the most appropriate autoantibody test and continuing with handling of biological samples,” the investigators said.
Find the full review in Expert Review of Molecular Diagnostics ( doi: 10.1080/14737159.2016.1217159 ).