Acute liver failure as the first symptom of childhood systemic lupus erythematosus: a case report and review of the literature.

Abstract

Although systemic lupus erythematosus (SLE) can affect multiple organ systems, manifestations within the digestive tract are not typically conspicuous during the early phase of the disease. The liver damage caused by SLE is mild and insidious. Patients with SLE presenting with acute liver failure as the primary manifestation are significantly rarer in clinical diagnosis. The absence of diagnostic criteria for digestive system manifestation in SLE complicates the diagnosis of lupus as the underlying cause, particularly during the initial presentation. Timely recognition of the disease and commencement of immunosuppressive treatment are crucial for enhancing clinical outcomes. This article reports a rare case of SLE in a 9-year-old Chinese girl presenting with acute liver failure as the initial symptom. The child lacked typical lupus features such as skin and joint manifestations, making the initial diagnosis extremely challenging. The diagnosis relied on key liver pathological examinations and positive serological lupus-specific antibodies, and gene sequencing identified the c.740C > T (p.A247V) mutation of the TREX1 gene. After treatment, her condition improved. This case highlights the importance of early immunological and genetic screening in pediatric patients with unexplained acute liver failure to identify potential SLE. This case represents the first reported instance of pediatric SLE presenting with acute liver failure as the initial manifestation, associated with the c.740C > T (p.A247V) mutation. These findings highlight the critical importance of a multi-modal diagnostic approach-encompassing immunological, pathological (biopsy), and genetic assessments-for the evaluation of children with such atypical presentations.