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Presentation type	E-poster
Title	Therapeutic response of tocilizumab in ROSAH syndrome: a case report

Purpose	To report the response of anti-IL-6-therapy (tocilizumab) in a patient with genetically confirmed ROSAH syndrome.
Methods	Signs and symptoms at baseline and 3-month follow-up are presented in a 36-year-old severely visually impaired female with autosomal dominant ROSAH syndrome associated with the p.(Thr237Met) variant of ALPK1.
Results	Following multidisciplinary assessment, a female with long-standing retinal dystrophy and optic disc gliosis, chronic fatigue and arthralgia in the context of ROSAH syndrome was commenced on monthly intravenous treatment with tocilizumab (8 mg/kg). Baseline visual acuity was light perception in both eyes. Band keratopathy and chronic low-grade anterior uveitis (cells 0.5 in both eyes) were noted and optical coherence tomography (OCT) showed diffuse, bilateral macular oedema. At 3-month-follow-up, she reported marked improvement of her fatigue, joint pains and subjective vision. Marked improvement of macula oedema was noted on OCT imaging, with cells 0 in the anterior chamber of both eyes and visual acuity of 0.1 decimal Snellen in the left eye (VA light perception on the right). C-reactive protein values – moderately elevated prior to treatment – had normalized. No adverse events were noted.
Conclusion	We report the 3-month outcome of tocilizumab treatment in a patient with ROSAH syndrome. Blockade of IL-6 is a promising therapeutic pathway in ALPK1-associated, NF-kB-driven autoinflammation.
Conflict of interest	No

Authors 1

Initials	F
Last name	Van den Broeck
Department	UZ Gent
City	Ghent

Authors 2

Initials	L
Last name	Naesens
Department	UZ Gent
City	Ghent

Authors 3

Initials	E
Last name	De Baere
Department	UZ Gent
City	Ghent

Authors 4

Initials	R
Last name	Wittoek
Department	UZ Gent
City	Ghent

Authors 5

Initials	BP
Last name	Leroy
Department	UZ Gent
City	Ghent

Authors 6

Initials	E
Last name	Kreps
Department	UZ Gent
City	Ghent