Objective: 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.
Research design and methods: 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.
Results: 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 to try to avoid symptomatic flares, patients reported limiting their work, school, family, and social activities. Seventy-eight percent of survey participants described an impact of the disease on their work, including absenteeism and impaired job advancement; frequently they quit their job as a consequence of their disease. Over 95% of survey participants reported that FCAS prevented participation in outdoor activities, while 83% indicated an impact on social activities, including relationships with friends and family. Limitations of this survey include the absence of a validated quality-of-life instrument, lack of correlation with patient medical records, and potential recall and responder bias. The number of participants appears small, but reflects 18% of the known FCAS population in the USA.
Conclusions: FCAS causes lifelong debilitating effects that restrict patients' daily lives. Poor recognition of this rare disease among healthcare professionals leads to delayed diagnosis and inappropriate or ineffective treatment. Healthcare providers need to be made aware of this serious debilitating disease to enable accurate and timely diagnosis and more compassionate management of this lifelong condition.