Recognising and understanding cryopyrin-associated periodic syndrome in adults

Abstract

Cryopyrin-associated periodic syndrome (CAPS) is a group of rare hereditary autoinflammatory diseases characterised by recurrent flares of mild to severe systemic inflammation and fever. CAPS is the umbrella term for a spectrum of individual conditions, namely familial cold autoinflammatory syndrome (FCAS), Muckle-Wells syndrome (MWS) and neonatal-onset multisystem inflammatory disease (NOMID), also known as chronic infantile neurologic, cutaneous and articular (CINCA) syndrome. The flare symptoms include fever, fatigue, rashes, headaches, arthralgia and myalgia that can last for a few hours or for several days. These symptoms are debilitating, contributing to poor quality of life for patients if left untreated. Serious life-changing complications such as hearing loss, blindness and AA amyloidosis resulting in kidney failure can occur. Until recently, treatment of the disease was symptomatic using non-steroidal anti-inflammatory and immunosuppressant drugs with limited success. In contrast, biological treatments targeting interleukin 1 (IL-1) have proved remarkably effective, often associated with complete and sustained disease remission, vastly improved quality of life and avoidance of serious long-term complications.

Hearing restoration and the stria vascularis: evidence for the role of the immune system in hearing restoration

“…There have been many immunomodulatory agents that have been investigated for off-label use for immune-mediated hearing loss. Inhibitors of IL-1 (anakinra, canakinumab, rilonacept) [36,38,70,82 ▪ ,83,84 ▪ ,85,86], IL-6 (tocilizumab) [87,88], TNF-α (infliximab, etanercept, golimumab, adalimumab) [34,42,67,69,74 ▪ ,88,89 ▪ ,90 ▪ ,91] and B-cells (rituximab) [34,67,69,88,93,94] have demonstrated efficacy. In addition, JAK inhibitors (tofacitinib) have recently been utilized in the treatment of autoimmune and autoinflammatory disorders [95 ▪ ].…”

Rare genetic causes of meningitis and encephalitis

“…Other typical signs and symptoms of CAPS include dermatological (urticarial-like rash), musculoskeletal (arthralgia, arthritis, myalgia, limb-length discrepancies and contractures, clubbing, patellar overgrowth), ocular (conjunctivitis, uveitis, papilledema, progressive amaurosis), and inner ear (sensorineural hearing loss) manifestations [ 18 ]. However, fever is not a common presenting symptom in patients with CAPS, and body temperature does not meet the standard criteria for fever [ 16 ].…”