DOI: 10.12890/2025_004989
Hyperinflammation and blindness. Screening for ROSAH syndrome
Authors
ftornero_r@hotmail.com
Keywords
ROSAH syndrome, inflammation, optic nerve oedema, ALPK1 gene, tocilizumabAbstract
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.
References
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