Reviews & Analysis

Genetic variation contributes to immune cell function. An unprecedented analysis of genetic associations with immune cell traits provides insights into the complex regulation of immune cells, reveals variants that coincidently influence immune traits and autoimmune disease risk, and offers specific therapeutic targets for these diseases.

The new 2019 EULAR–ACR classification criteria for systemic lupus erythematosus (SLE) performed well in the initial derivative and validation cohorts. But do these criteria outperform previous classification criteria across sexes, disease durations or ethnicities?

The ability to predict how a patient might respond to a medication would shift treatment decisions away from trial and error and reduce disease-associated health and financial burdens. Machine learning approaches applied to genomic datasets offer great promise to deliver personalized medicine but their application must first be optimized.

For young people with rheumatic diseases, the transition from paediatric to adult rheumatology care is a vulnerable time, and delays or disruption in their care can lead to adverse outcomes. Research into the factors associated with gaps in transitional care could improve the identification and targeting of vulnerable groups.

Cardiac toxicity can be induced by hydroxychloroquine, especially when used in combination with azithromycin. Interest in hydroxychloroquine and azithromycin as potential therapies for COVID-19 has renewed concerns about the possible cardiovascular risk these drugs present to patients with rheumatoid arthritis.

Gender disparities persist in many aspects of working life for women in academic rheumatology. To move forward, we must find ways to address the gender gap in rheumatology with the goal of creating a workforce as diverse as the patient population it serves.

Comorbidities are highly prevalent in patients with rheumatoid arthritis (RA), yet clinical care for such patients is often of inferior quality, even in rheumatology clinics. Suggestions for good clinical practice interventions from an expert panel aim to improve the quality of care for patients with RA who have associated comorbidities.

Suboptimal medication adherence, a major problem among individuals with systemic lupus erythematosus, is often more pronounced among minority racial groups. As the roots of racial disparities in treatment adherence are beginning to be untangled, the need for multidisciplinary, multilevel approaches to tackle this complex problem is emerging.

Pain in osteoarthritis is multifactorial, but a disconnect between radiographic features and symptoms hampers our understanding of pain. New imaging data suggest that pain arises from virtually all structures in the joint and that cartilage loss is only a minor contributor to pain symptoms but is important for disease progression.

Exactly how nucleic acids trigger type I interferon responses via certain Toll-like receptors has been uncertain. Now, a new pathway involving gene products previously linked to systemic lupus erythematosus but not known to interact has been unravelled, which could be of relevance to the female sex bias in this disease.

Early diagnosis of immune-mediated arthropathies is important for early and effective treatment, but often relies on clinical expertise. Can the use of a new genetic risk score help rule out and prioritize certain diagnoses? And does this score add any clinical utility to current clinical diagnostic pathways?

The ACR has published an update to its guideline on gout management, which was mostly based on the results of randomized controlled trials (RCTs). Although rigorous, the methodology used for these recommendations can be called into questioned given the lack of robust data from RCTs on all aspects of gout.

Researchers have developed an in silico (computer) platform that couples tissue adaptation with cellular and molecular interactions to simulate bone adaptation to mechanical loading and progress and treatment of metabolic bone diseases. What is the benefit of such in silico tools, and how can credibility of the simulation outcomes be established?

Rheumatologists lack guidance on how to manage the reproductive health of their patients, and communication to patients on reproductive health issues is an unmet need. New guidelines from the ACR provide support in the counselling of both female and male patients on the different aspects of their reproductive life.

Results from phase II randomized controlled trials (RCTs) determine whether promising therapeutics will progress to phase III. According to detailed analyses in rheumatoid arthritis and psoriatic arthritis, phase II efficacy data systematically overestimate subsequent phase III results, raising the question of how this discrepancy might be addressed in future RCTs.

The COVID-19 pandemic has catalysed the sudden adoption of telemedicine in the management of rheumatic diseases. In this abrupt transition from in-person visits to telemedicine, can patient-reported outcomes (PROs) help ensure that we continue to achieve optimum disease control and address the concerns of people living with rheumatoid arthritis?

Emerging reports show that severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection precedes the appearance of various autoimmune and autoinflammatory diseases, including paediatric inflammatory multisystemic syndrome (PIMS) or multisystem inflammatory syndrome in children (MIS-C), thus adding to the growing mystery of this virus and raising questions about the nature of its link with autoimmune and autoinflammatory sequelae.

The heterogeneity of systemic lupus erythematosus (SLE) confounds the diagnosis and treatment of this disease, and attempts at disease stratification are nascent. Researchers have identified a common set of biomarkers in patients with SLE that could identify new therapeutic targets and lead to new clinical assays to help address this issue.

Baseline immune variation predicts immune responses during vaccination, and the gene signatures capturing such immune variation seem to correlate with systemic lupus erythematosus (SLE) disease activity. Will the definition of these gene sets enable the development of the much needed concept of personalized medicine in SLE?

Idiopathic inflammatory myopathies (IIMs) are heterogeneous conditions, and the optimal way to classify patients and divide them into subgroups remains unclear. Could machine learning techniques be the answer to the problem of defining homogeneous disease phenotypes, enabling stratified treatment approaches and the formulation of future IIM classification criteria?