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Journal of Ophthalmic Inflammation and Infection

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Open Access 01-12-2015 | Brief report

Successful resolution of stromal keratitis and uveitis using canakinumab in a patient with chronic infantile neurologic, cutaneous, and articular syndrome: a case study

Authors: Masayuki Hirano, Jiro Seguchi, Masahiro Yamamura, Akiko Narita, Hirotaka Okanobu, Ryuta Nishikomori, Toshio Heike, Mio Hosokawa, Yuki Morizane, Fumio Shiraga

Published in: Journal of Ophthalmic Inflammation and Infection | Issue 1/2015

Abstract

Background

Cryopyrin-associated periodic syndrome (CAPS) is a group of rare autoinflammatory diseases, and of these, chronic infantile neurologic, cutaneous, and articular/neonatal-onset multisystem inflammatory disease (CINCA/NOMID) syndrome has the most severe phenotype. Canakinumab, a monoclonal antibody that targets interleukin-1β, has been shown to be an effective treatment for resolving systemic inflammation. However, its efficacy for treating ophthalmic symptoms of this disorder remains unclear.

Findings

A 64-year-old female reported episodes of nonpruritic urticaria, fever, aseptic meningitis, and bilateral sensorineural deafness. Her son had experienced similar symptoms. She was initially referred for ophthalmologic treatment for an infectious corneal ulcer. Examination of her right eye by slit lamp biomicroscopy showed diffuse conjunctival injection, corneal infiltrates, a corneal ulcer, and hypopyon. She was therefore treated aggressively with topical and systemic antibiotics in addition to antifungal medications. However, this was ineffective. Genetic analysis detected the heterozygous germline p.Asp303Asn mutation in the NLRP3 gene in both our patient and her son. She was therefore diagnosed with CINCA/NOMID syndrome based on her clinical manifestations. All of the patient’s physical and ophthalmic symptoms were resolved within a few days after the initiation of canakinumab treatment. During an 18-month follow-up period, no adverse events or severe infections were observed.

Conclusions

Our case report indicates that canakinumab is effective not only for the treatment of systemic inflammation but also for treating ophthalmic involvement, such as recurrent stromal keratitis and anterior uveitis.

Feldmann J, Prieur A-M, Quartier P et al (2002) Chronic infantile neurological cutaneous and articular syndrome is caused by mutations in CIAS1, a gene highly expressed in polymorphonuclear cells and chondrocytes. Am J Hum Genet 71:198–203PubMedCentralCrossRefPubMed

Hassink SG, Goldsmith DP (1983) Neonatal onset multisystem inflammatory disease. Arthritis Rheum 26:668–673CrossRefPubMed

Hawkins PN, Lachmann HJ, Aganna E, McDermott MF (2004) Spectrum of clinical features in Muckle-Wells syndrome and response to anakinra. Arthritis Rheum 50:607–612. doi:10.1002/art.20033 CrossRefPubMed

Lachmann HJ, Lowe P, Felix SD et al (2009) In vivo regulation of interleukin 1beta in patients with cryopyrin-associated periodic syndromes. J Exp Med 206:1029–1036. doi:10.1084/jem.20082481 PubMedCentralCrossRefPubMed

Aksentijevich I, Nowak M, Mallah M et al (2002) De novo CIAS1 mutations, cytokine activation, and evidence for genetic heterogeneity in patients with neonatal-onset multisystem inflammatory disease (NOMID): a new member of the expanding family of pyrin-associated autoinflammatory diseases. Arthritis Rheum 46:3340–3348. doi:10.1002/art.10688 PubMedCentralCrossRefPubMed

Dinarello CA (2007) Mutations in cryopyrin: bypassing roadblocks in the caspase 1 inflammasome for interleukin-1beta secretion and disease activity. Arthritis Rheum 56:2817–2822. doi:10.1002/art.22841 CrossRefPubMed

Neven B, Prieur A-M, Quartier Dit Maire P (2008) Cryopyrinopathies: update on pathogenesis and treatment. Nat Clin Pract Rheumatol 4:481–489. doi:10.1038/ncprheum0874 CrossRefPubMed

Gattorno M, Tassi S, Carta S et al (2007) Pattern of interleukin-1beta secretion in response to lipopolysaccharide and ATP before and after interleukin-1 blockade in patients with CIAS1 mutations. Arthritis Rheum 56:3138–3148. doi:10.1002/art.22842 CrossRefPubMed

Prieur AM, Griscelli C, Lampert F et al (1987) A chronic, infantile, neurological, cutaneous and articular (CINCA) syndrome. A specific entity analysed in 30 patients. Scand J Rheumatol Suppl 66:57–68CrossRefPubMed

10.

Inamo Y, Kin H, Fujita Y et al (1994) Chronic, infantile, neurological, cutaneous and articular syndrome in Japan; two case reports. Clin Exp Rheumatol 12:447–449PubMed

11.

Dollfus H, Häfner R, Hofmann HM et al (2000) Chronic infantile neurological cutaneous and articular/neonatal onset multisystem inflammatory disease syndrome: ocular manifestations in a recently recognized chronic inflammatory disease of childhood. Arch Ophthalmol 118:1386–1392CrossRefPubMed

12.

Hoffman HM, Patel DD (2004) Genomic-based therapy: targeting interleukin-1 for autoinflammatory diseases. Arthritis Rheum 50:345–349. doi:10.1002/art.20032 CrossRefPubMed

13.

Kuemmerle-Deschner JB, Hachulla E, Cartwright R et al (2011) Two-year results from an open-label, multicentre, phase III study evaluating the safety and efficacy of canakinumab in patients with cryopyrin-associated periodic syndrome across different severity phenotypes. Ann Rheum Dis 70:2095–2102. doi:10.1136/ard.2011.152728 CrossRefPubMed

14.

Goldbach-Mansky R, Dailey NJ, Canna SW et al (2006) Neonatal-onset multisystem inflammatory disease responsive to interleukin-1beta inhibition. N Engl J Med 355:581–592. doi:10.1056/NEJMoa055137 PubMedCentralCrossRefPubMed

15.

Imagawa T, Nishikomori R, Takada H et al (2013) Safety and efficacy of canakinumab in Japanese patients with phenotypes of cryopyrin-associated periodic syndrome as established in the first open-label, phase-3 pivotal study (24-week results). Clin Exp Rheumatol 31:302–309PubMed

16.

Agematsu K (2007) Clinical observation of autoinflammatory diseases. Nihon Rinsho Meneki Gakkai Kaishi 30:63–67CrossRefPubMed

Title: Successful resolution of stromal keratitis and uveitis using canakinumab in a patient with chronic infantile neurologic, cutaneous, and articular syndrome: a case study
Authors: Masayuki Hirano
Jiro Seguchi
Masahiro Yamamura
Akiko Narita
Hirotaka Okanobu
Ryuta Nishikomori
Toshio Heike
Mio Hosokawa
Yuki Morizane
Fumio Shiraga
Publication date: 01-12-2015
Publisher: Springer Berlin Heidelberg
Published in: Journal of Ophthalmic Inflammation and Infection / Issue 1/2015
Electronic ISSN: 1869-5760
DOI: https://doi.org/10.1186/s12348-015-0065-9

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Successful resolution of stromal keratitis and uveitis using canakinumab in a patient with chronic infantile neurologic, cutaneous, and articular syndrome: a case study

Abstract

Background

Findings

Conclusions

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Abstract

Background

Findings

Conclusions

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