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Type presentatieE-poster
TitelTherapeutic response of tocilizumab in ROSAH syndrome: a case report
DoelTo report the response of anti-IL-6-therapy (tocilizumab) in a patient with genetically confirmed ROSAH syndrome.
MethodesSigns 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.
ResultatenFollowing 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.
ConclusieWe 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.
BelangenverstrengelingNee
Auteurs 1
InitialenF
NaamVan den Broeck
InstituutUZ Gent
StadGhent
Auteurs 2
InitialenL
NaamNaesens
InstituutUZ Gent
StadGhent
Auteurs 3
InitialenE
NaamDe Baere
InstituutUZ Gent
StadGhent
Auteurs 4
InitialenR
NaamWittoek
InstituutUZ Gent
StadGhent
Auteurs 5
InitialenBP
NaamLeroy
InstituutUZ Gent
StadGhent
Auteurs 6
InitialenE
NaamKreps
InstituutUZ Gent
StadGhent
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