Cold-induced Urticaria With a Familial Transmission
Cold-induced Urticaria With a Familial Transmission
Introduction: Cryopyrin-associated periodic syndrome is a rare genetic disorder causing cold-induced urticaria, severe arthralgias, and (potentially) renal failure and hearing loss. Therapies that effectively control the symptoms and prevent the complications of this debilitating disorder are now available, making recognition of this disease important.
Case presentation: A 60-year-old Caucasian woman presented with complaints of rash and joint pains to a general medicine clinic. Her history showed that her symptoms were linked to cold exposure, but the results of a cold stimulation time test were negative. Several generations of her family had similar symptoms.
Conclusions: This case highlights the importance of considering cryopyrin-associated periodic syndrome in the differential diagnosis of cold-induced urticaria. Several medications targeting interleukin-1-beta are available, providing significant relief from symptoms and improvement in quality of life in affected patients.
Cryopyrin-associated periodic syndrome (CAPS) is a rare inherited inflammatory disorder with a unique pathophysiology related to overproduction of interleukin-1-beta (IL-1β). CAPS consists of three syndromes: the familial cold autoinflammatory syndrome (FCAS), Muckle-Wells syndrome (MWS), and neonatal onset multisystem inflammatory disease (NOMID) (also known as the chronic infantile neurologic, cutaneous, articular [CINCA] syndrome). These disorders share a number of phenotypic features and represent a continuum of disease severity; FCAS is at the milder end, NOMID/CINCA syndrome is at the more severe end, and MWS is an intermediate form. Although they are described as distinct disorders, there is some overlap of symptoms among them. Inflammasome overactivation leading to overproduction of IL-1β underlies all of these disorders, most often due to autosomal dominant inheritance of missense mutations in the gene coding for cryopyrin.
Abstract and Introduction
Abstract
Introduction: Cryopyrin-associated periodic syndrome is a rare genetic disorder causing cold-induced urticaria, severe arthralgias, and (potentially) renal failure and hearing loss. Therapies that effectively control the symptoms and prevent the complications of this debilitating disorder are now available, making recognition of this disease important.
Case presentation: A 60-year-old Caucasian woman presented with complaints of rash and joint pains to a general medicine clinic. Her history showed that her symptoms were linked to cold exposure, but the results of a cold stimulation time test were negative. Several generations of her family had similar symptoms.
Conclusions: This case highlights the importance of considering cryopyrin-associated periodic syndrome in the differential diagnosis of cold-induced urticaria. Several medications targeting interleukin-1-beta are available, providing significant relief from symptoms and improvement in quality of life in affected patients.
Introduction
Cryopyrin-associated periodic syndrome (CAPS) is a rare inherited inflammatory disorder with a unique pathophysiology related to overproduction of interleukin-1-beta (IL-1β). CAPS consists of three syndromes: the familial cold autoinflammatory syndrome (FCAS), Muckle-Wells syndrome (MWS), and neonatal onset multisystem inflammatory disease (NOMID) (also known as the chronic infantile neurologic, cutaneous, articular [CINCA] syndrome). These disorders share a number of phenotypic features and represent a continuum of disease severity; FCAS is at the milder end, NOMID/CINCA syndrome is at the more severe end, and MWS is an intermediate form. Although they are described as distinct disorders, there is some overlap of symptoms among them. Inflammasome overactivation leading to overproduction of IL-1β underlies all of these disorders, most often due to autosomal dominant inheritance of missense mutations in the gene coding for cryopyrin.
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