Familial cold auto-inflammatory syndrome (FCAS): characterization of symptomatology and impact on patients' lives
Abstract
Familial cold auto-inflammatory syndrome (FCAS), a subtype of cryopyrin-associated periodic syndromes (CAPS), is a rare, inherited disease that is virtually unknown to healthcare professionals. The aim of this patient survey was to characterize the symptomatology and evaluate the debilitating effects of FCAS on patients' daily lives. Patients included in a disease database consisting of 167 FCAS and Muckle-Wells syndrome (MWS) patients were provided an opportunity to voluntarily participate in a cross-sectional market-based survey. Upon assessment of eligibility, individual in-depth phone interviews were conducted by an independent research agency to characterize disease symptomatology, diagnosis, and disease impact on daily activities. Thirty patients with prior diagnosis of FCAS participated. The most common and recurring symptoms reported were rash, joint pain, chills, and fever. The majority of survey participants (90%) reported that they presented with symptoms as newborns or in early childhood - symptoms which became burdensome by school age, with patients reporting recurring symptoms and debilitating disease flares precipitated by environmental exposure to cooling temperatures. To cope with their underlying disease and t...Continue Reading
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