Hyperinflammation and Blindness. Screening for ROSAH Syndrome.

In 2019, ROSAH syndrome (retinal dystrophy, optic nerve oedema, splenomegaly, anhidrosis, and headache) was identified in five families, attributed to a mutation in the ALPK1 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: ROSAH is a syndrome that includes retinal dystrophy, optic nerve oedema, splenomegaly, anhidrosis and headache.So far it has only been reported in five families who have a mutation in the ALPK1 gene.Patients can improve dramatically on treatment with an interleukin 6 inhibitor.