Updates in Pediatric Lupus: Experts Discuss Advances in Lupus Nephritis Treatments, Monogenic Lupus & More

Dr. Vogel also discussed several causes of monogenic lupus, including those that result in classic lupus, those that mimic lupus but can cause a more predominant feature, and those that cause additional significant non-lupus-like features. She said clinicians should consider genetic sequencing for patients presenting with extreme phenotypes, including patients with early-onset disease, atypical features, disease that is refractory to treatment or progressive despite treatment, and patients with an atypical family history.

As genetic sequencing becomes more widely used, Dr. Vogel expects we will continue to discover new genes involved in the pathogenesis of lupus and improve our understanding of their genetic burden.

Dr. Hedrich

Extra-Renal Lupus

The final speaker was Christian Hedrich, MD, PhD, a pediatric rheumatologist and professor, Women’s & Children’s Health, Liverpool, U.K. His presentation focused on the management of extra-renal juvenile systemic lupus erythematosus (jSLE).

He reiterated that lupus is a highly complex disease with a variable phenotype that can affect essentially any part of the body. Unlike those with monogenic disease, most children who develop lupus have some genetic predisposition, but require other triggers, such as environmental factors, hormonal influences or other events. He said jSLE accounts for 10–20% of all SLE cases. The average age of onset is 12 years. In contrast to adults with SLE, children with SLE experience higher disease activity at diagnosis, with more organ involvement and complications. Also, children with SLE often require more immunosuppression, which according to Dr. Hedrich, suggests that treatments are not as effective in jSLE as they are in adult SLE.

Dr. Hedrich continued with an overview of the SHARE (Single Hub and Access Point for Paediatric Rheumatology in Europe) guidelines for the diagnosis and treatment of jSLE.⁵ These guidelines include recommendations for all patients with jSLE to receive hydroxychloroquine to control disease activity and reduce disease flares. Other recommendations include the addition of disease-modifying anti-rheumatic drugs (DMARDs) when corticosteroids are insufficient to control non-renal disease and the use of rituximab if DMARDs are inadequate. Guidelines such as these can be helpful because rituximab is not recognized or licensed for treatment of jSLE in all countries.

Dr. Hedrich then presented data from the U.K. jSLE cohort, including evidence of a wide variation in treatment strategies. Following the release of the SHARE recommendations, data show an increased use of additional treatments, including rituximab, in patients with an inadequate response to corticosteroids.

Researchers have also used the U.K. cohort to investigate how ethnicity and age-related phenotypes in jSLE may inform treatment decisions. In the cohort, they found Black patients presented with symptoms at a younger age and with greater female predominance. Correlations were also found between disease manifestations and treatments.⁶ When stratifying for age, researchers also observed differences in disease manifestations between children who presented with jSLE prior to puberty, during puberty and in adolescence.⁷