CAPS-associated mutations increase NLRP3 inflammasome activation and production of the proinflammatory cytokine IL-1β, which plays a pivotal role in local and systemic inflammation in CAPS.1
The prevalence of CAPS is 2.7-5.5/million people worldwide, however it may be underestimated as CAPS is not widely known and may be misdiagnosed.2 CAPS includes three main clinical phenotypes: Familial Cold Autoinflammatory Syndrome (FCAS), Muckle-Wells Syndrome (MWS), and Neonatal-Onset Multisystem Inflammatory Disease (NOMID), also known as Chronic Infantile Neurological Cutaneous and Articular Syndrome (CINCA). CAPS is characterized by systemic inflammation, leading to symptoms such as fever, rash, joint pain, and fatigue. If left uncontrolled, it can result in irreversible organ damage, including hearing loss, AA amyloidosis*, vision loss, skeletal deformities, and cognitive disability.3
The symptoms of CAPS range in severity and are often present in childhood, but diagnosis may be delayed due to its rarity and lack of disease awareness. Early diagnosis and treatment initiation are critical to delay and/or prevent irreversible organ damage in patients with the more severe forms of CAPS.1-4
The goal of treatment in CAPS is to suppress systemic inflammation, prevent organ damage and improve the patient’s quality of life.1-4
EULAR/ACR currently recommend three IL-1 inhibitors, including Kineret, as the standard of care for CAPS. Dosing should be adjusted according to the severity and activity of the disease in a treat-to-target approach to resolve clinical symptoms and normalize inflammatory markers, and adjusted for weight gain and appropriate development in the growing patient. Regular monitoring by a multidisciplinary team to help manage any organ manifestations is recommended.3
Clinical studies in CAPS have shown that Kineret provides rapid and sustained resolution of CAPS symptoms and reduction of inflammatory biomarkers.5 In the severe forms of CAPS, long-term treatment with Kineret has been shown to improve the systemic inflammatory organ manifestations of the eye, inner ear, and CNS.8
In a pivotal study assessing the efficacy of Kineret in both children and adults with NOMID, the most severe form of CAPS, patients who were treated with anakinra (up to 5 mg/kg/day) experienced a significant and rapid reduction in frequently occurring symptoms such as fever, rash, joint pain, headache, fatigue, and conjunctivitis.6-7
Blocking IL-1 led to improvement and stabilization of inflammatory biomarkers such as SAA, CRP, and ESR.6-7
During Kineret treatment:
Global Diary Score= Median daily scores of five symptoms (fever, rash, headache, joint pain, and vomiting) were evaluated daily with the use of a scale that ranged from 0 (no symptoms) to 4 (severe symptoms) (possible total range, 0 to 20). The maximal daily score measured was 14; the minimal score was 0.
* AA Amyloidosis can occur as a response to a chronic inflammatory disease or infection. These conditions cause the liver to produce high levels of a protein called serum amyloid A (SAA), which may form abnormal fibril protein aggregates in tissues and organs, leading to AA amyloidosis.
Abbreviations
CHAQ, Childhood Health Assessment Questionnaire (CHAQ), a standardized test for the assessment of disability, range from 0 to 3, with higher scores indicating more severe impairment; NLRP3, NOD-like receptor family pyrin domain-containing 3; CRP, C-reactive protein; SAA, serum amyloid A; ESR, erythrocyte sedimentation rate; IL-1, Interleukin-1; CNS, central nervous system