Familial cold autoinflammatory syndrome

Familial cold autoinflammatory syndrome (FCAS), formerly known as familial cold urticaria, is a rare, lifelong hereditary systemic autoinflammatory disorder that represents the mildest phenotype within the spectrum of cryopyrin-associated periodic syndromes (CAPS)

Familial cold autoinflammatory syndrome (FCAS), formerly known as familial cold urticaria, is a rare, lifelong hereditary systemic autoinflammatory disorder that represents the mildest phenotype within the spectrum of cryopyrin-associated periodic syndromes (CAPS) Typically inherited in an autosomal dominant manner and manifesting in early infancy, the condition predominantly arises from gain-of-function variants in the *NLRP3* gene, driving hyperactivation of the cryopyrin inflammasome and aber...

Familial cold autoinflammatory syndrome (FCAS), formerly known as familial cold urticaria, is a rare, lifelong hereditary systemic autoinflammatory disorder that represents the mildest phenotype within the spectrum of cryopyrin-associated periodic syndromes (CAPS)

Typically inherited in an autosomal dominant manner and manifesting in early infancy, the condition predominantly arises from gain-of-function variants in the *NLRP3* gene, driving hyperactivation of the cryopyrin inflammasome and aberrant, excessive release of interleukin-1 beta Clinically, FCAS is defined by recurrent, self-limited inflammatory episodes provoked within hours of generalized exposure to ambient cold or rapid temperature drops Hallmark manifestations of these flares, which usuall...

Clinically, FCAS is defined by recurrent, self-limited inflammatory episodes provoked within hours of generalized exposure to ambient cold or rapid temperature drops Hallmark manifestations of these flares, which usually resolve within 24 hours, include an itchy or burning urticaria-like rash, low-grade fevers, arthralgias, conjunctival injection, profound fatigue, and constitutional symptoms

Hallmark manifestations of these flares, which usually resolve within 24 hours, include an itchy or burning urticaria-like rash, low-grade fevers, arthralgias, conjunctival injection, profound fatigue, and constitutional symptoms