ABC Medical Notes.com

During the attacks, levels of C-reactive protein (CRP) and serum amyloid A (SAA) in the blood, as well as absolute neutrophil count may be increased

Hives, sore joints flare out
Fever, chills recurrent bouts
Hearing grows more faint
Cryopyrin from parent
Clogged tissues proteins errant

About

• A rare autoinflammatory disorder.
• A form of cryopyrin-associated periodic syndrome (CAPS)

Aetiology

• It is due to NLRP3 gene mutations, responsible for excessive caspase-1 activation and interleukin 1ß processing

Clinical

• Urticarial rash, conjunctivitis, recurrent fever, arthralgia, and fatigue
• Sensorineural hearing loss and renal amyloidosis
• Oral ulcer, folliculitis, or erythema nodosum

Investigations

• U&E: Amyloidosis leading to proteinuria and renal failure
• Raised inflammatory markers (CRP/SAA)

Management: Three IL-1 inhibitors have shown efficacy in CAPS

• Anakinra, a recombinant non-glycosylated form of the human IL-1RA. Daily subcutaneous injections of anakinra resulted in rapid regression of symptoms and normalization of CRP and SAA level
• Rilonacept, a chimerical protein consisting of the IL-1-binding domains of IL-1RI and IL-1R accessory protein fused to the Fc portion of human IgG1
• Canakinumab, a fully human monoclonal IgG1 targeted at IL-1ß

References

• Muckle–Wells syndrome