Familial cold auto-inflammatory syndrome (FCAS): characterization of symptomatology and impact on patients' lives
Familial cold auto-inflammatory syndrome (FCAS): characterization of symptomatology and impact on patients' lives
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DOI：
10.1185/03007990802081543
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发表时间：
2008-06-01
影响因子：
2.3
通讯作者：
Dobrovolny, Diana
中科院分区：
文献类型：
--
作者：
Stych, Beate;Dobrovolny, Diana
目的：家族性感冒自身炎症综合征（FCAS）是一种罕见的遗传性疾病，几乎不为医疗保健专业人员所知。这项患者调查的目的是表征症状，并评估FCAS对患者日常生活的削弱作用。研究设计和方法：纳入167名FCAS和Muckle-Wells综合征（MWS）患者的疾病数据库的患者有机会自愿参加一项基于市场的横断面调查。在评估合格性后，由独立研究机构进行个人深度电话访谈，以确定疾病症状、诊断和疾病对日常活动的影响。结果：30例既往诊断为FCAS的患者参与。报告的最常见和反复出现的症状是皮疹、关节痛、寒战和发烧。大多数调查参与者（90%）报告说，他们在新生儿或幼儿时期就出现了症状，这些症状在学龄时变得很严重，患者报告说，由于环境暴露于较低的温度，症状反复出现，疾病发作，使人衰弱。为了应对其潜在疾病并尽量避免症状发作，患者报告限制了他们的工作、学校、家庭和社会活动。78%的调查参与者描述了这种疾病对他们工作的影响，包括缺勤和阻碍工作晋升；他们经常因为疾病而辞职。超过95%的调查参与者报告说，FCAS阻碍了他们参加户外活动，而83%的人表示，FCAS影响了他们的社交活动，包括与朋友和家人的关系。本调查的局限性包括缺乏有效的生活质量测量工具，缺乏与患者医疗记录的相关性，以及潜在的回忆和应答者偏差。参与者的数量看起来很少，但反映了美国已知FCAS人口的18%。结论：FCAS可导致终生衰弱，限制患者的日常生活。卫生保健专业人员对这种罕见疾病的认识不足，导致诊断延误和治疗不当或无效。医疗保健提供者需要意识到这种严重的使人衰弱的疾病，以便准确及时地诊断和更富有同情心地管理这种终身疾病。
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.