The role of HLA typing in rheumatic diseases

Association between HLA-DR4 and rheumatoid arthritis (RA) has been known for 4 decades, and amino acid sites within HLA-DRB1 (11/13, 71, 74) are highly associated with RA. HLA is not useful for diagnosis or prognosis, but it may help predict severe and erosive disease. Since 90% of patients with ankylosing spondylitis (AS) and 50-70% of other spondyloarthritis (SpA) patients are HLA-B*27 positive, HLA is a stronghold of diagnostic algorithms. Genetic predisposition to juvenile idiopathic arthritis (JIA) is mainly due to HLA class II, and to a lesser extent to HLA class I. Although HLA plays a role in rheumatic disorders, its clinical relevance is not homogeneous. When classical biomarkers are lacking or in complex cases, HLA typing may provide support for the management of patients.