Work

Hyperinflammation and blindness. Screening for ROSAH syndrome

Year: 2025

Type: article

Abstract: gene. Subsequently, in 2022, it was classified within the spectrum of autoinflammatory diseases with multisystemic involvement. Evidence has demonstrated that this genetic mutation induces hyperactivation of the nuclear factor kappa-light-chain-enhancer of activated B cells (NF-KB) inflammasome pathway, and the clinical phenotype of 27 patients has been documented. We present the case of a patient who experienced an acute presentation characterized by anaemia, thrombocytopenia, and mild renal and hepatic dysfunction. Furthermore, this article underscores the remarkable therapeutic efficacy of interleukin 6 (IL-6) blockade and provides a detailed account of the clinical progression of the various organs and systems affected by the disease. LEARNING POINTS: gene.Patients can improve dramatically on treatment with an interleukin 6 inhibitor.

Source: European Journal of Case Reports in Internal Medicine

DOI: 10.12890/2025_004989