Hyperinflammation and Blindness. Screening for ROSAH Syndrome.

Area of Science:

• Genetics and Molecular Biology
• Immunology
• Ophthalmology

Background:

• ROSAH syndrome, linked to ALPK1 gene mutations, presents with retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and headache.
• It is classified as an autoinflammatory disease with multisystemic involvement, affecting the NF-κB inflammasome pathway.

Purpose of the Study:

• To present a case of ROSAH syndrome with acute presentation.
• To highlight the therapeutic efficacy of IL-6 blockade in ROSAH syndrome.
• To detail the clinical progression of organ systems affected by ROSAH syndrome.

Main Methods:

• Case report of a patient with ROSAH syndrome.
• Review of existing literature on ROSAH syndrome and ALPK1 gene mutations.
• Analysis of clinical progression and treatment response.

Main Results:

• The patient presented with acute anemia, thrombocytopenia, and mild renal and hepatic dysfunction.
• IL-6 blockade demonstrated remarkable therapeutic efficacy.
• Detailed clinical progression across multiple organ systems was observed.

Conclusions:

• ROSAH syndrome is a distinct genetic disorder associated with ALPK1 mutations.
• IL-6 blockade offers a promising therapeutic strategy for ROSAH syndrome patients.
• Further research is warranted to fully understand the disease spectrum and long-term outcomes.