Background/Purpose: Cryopyrin-associated periodic syndrome (CAPS) comprises a group of rare, but severe, autoinflammatory diseases, characterized by urticaria, periodic fever, central nervous system inflammation, arthropathy, and increased risk of amyloidosis. In a recent trial the use of subcutaneous doses of 150 mg of canakinumab every 8 weeks was associated with complete control of clinical manifestations and laboratory parameters in patients with CAPS. The aim of this study was to verify efficacy and safety of the drug in clinical practice.
Methods: Retrospective longitudinal observational study, which included all patients diagnosed with CAPS in a tertiary hospital. Demographic and disease characteristics of all patients were collected. The decision to treat was performed by their rheumatologists. Clinical and laboratory variables at last follow-up were compared with those registered at Canakinumab treatment baseline. Percentages were obtained for qualitative variables and means with standard deviation (SD) for quantitative variables. Comparison between disease activity before and after therapy was performed with a t -student test.

Results: 10 genetically proved CAPS patients were included. 9 of them presented with the typical MWS phenotype and one of them patients with an overlapping MWS/ FCAS phenotype. Seven of the patients belonged to the same family. All 10 patients were heterozygous carriers of different mutations in the NLRP3 gene: p.Thr-348-Met in exon 3, D303N in all family affected members, a deletion of bp (A) in exon 3, a mutation not described before, and finally, pR260W. Because disease activity, 50% of the patients were treated with a subcutaneous dose of 150 mg every 8 weeks of Canakinumab. Clinical and laboratory parameters of those patients are shown in Table 1. Both clinical and laboratory parameters responded quickly to that therapy. The mean decrease in CRP levels was 83.2 mg / L (SD 64.1) (p 0.04) in the levels of ESR of 40.8 mm / h (SD 24.9) (p 0,02). The mean increase in hemoglobin levels was 2.5 points (SD 2.62) (p 0.1) and the mean decrease in the platelet count was 161250 (SD 158838) (p 0.135). One of the patients is in a reduced dose schedule, receiving canakinumab every 10 weeks. No patients presented with any adverse events during follow up.

Conclusion:  The use of canakinumab in daily practice is associated with persistent satisfactory control of disease activity. Here 10 patients with different mutations are presented, including a not previously reported mutation.

Table 1. Clinical and laboratory parameters of patient on Canakinumab Therapy.

Cases	Sex	Age	Previous Therapies	Mutation	Clinical Manifestations
1	Male	50	Colchicine Glucocorticoids Methotrexate	D303N	Arthritis Urthicaria Deafness Fever Conjunctivitis Meningitis
2	Male	35	Colchicine Glucocorticoids Methotrexate Infliximab	D303N	Arthritis Urthicaria Deafness Fever Conjunctivitis
3	Male	30	Colchicine Glucocorticoids Methotrexate	D303N	Urthicaria Deafness Fever Conjunctivitis Amiloydosis
4	Male	48	Colchicine Glucocorticoids Methotrexate Cyclosporine Etanercept	p.Thr-348-Met	Arthritis Urthicaria Deafness Fever Conjunctivitis
5	Male	53	Colchicine Glucocorticoids	pR260W	Arthritis Urthicaria Deafness Fever Conjunctivitis

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ACR Meeting Abstracts - https://acrabstracts.org/abstract/effectiveness-of-canakinumab-in-a-cryopyrin-associated-periodic-syndrome-cohort-a-single-center-experience/