PDF(Pubmed)
Abstract：
BACKGROUND: Fabry disease is a rare inherited disorder resulting from deficient α-galactosidase A enzyme activity. Common disease manifestations are sweating abnormalities, neuropathic pain, gastrointestinal symptoms and fatigue. Challenges are faced by health care professionals in evaluating symptom burden in the current clinical setting, and the demand for alternative methods for monitoring disease-specific symptoms has seen an acceleration in recent years. Smartphone technologies offer the potential for continuity of care and surveillance. As a part of a quality improvement project, a disease specific app was developed in collaboration with a software company (Health Touch Ltd) and made available for patient use in May 2018. The Fabry mobile app records five categories: pain, gastrointestinal symptoms, sweating, activity levels, medications. Fabry disease patients with gastrointestinal and pain symptoms attending the Lysosomal Storage Disorders Unit of the Royal Free London NHS Foundation Trust were reviewed to assess eligibility and invited to download the app for recording their symptoms (activity, sweating, pain and gastrointestinal) and medications. Patient-generated data were transmitted to a secure website for clinicians to review.
RESULTS: One-hundred and thirty-nine symptomatic Fabry disease patients who had a smartphone (iPhone or android) were invited to download the app. Sixty-seven patients (26 males and 41 females; median age, 49 years [range, 20-81]) downloaded and tracked the Fabry App at least once. The median frequency of use per patient was 6 (range, 1-629). Pain in the hands and abdominal pain were significantly higher (p = 0.009 and p = 0.007, respectively) in patients with classic phenotype compared with patients with non-classic phenotypes.
CONCLUSIONS: We demonstrated the feasibility and acceptability of a smartphone app to facilitate the remote assessment and monitoring of Fabry disease symptom burden on a daily/weekly basis, as an alternative to the current standard of care that requires patients to recall their symptoms during 6 to 12 monthly annual clinic visits. Patients who were more likely to use the app had greater disease burden. This innovation has the potential to assess disease progression, early therapeutic intervention, thereby decreasing the burden of morbidity and mortality among Fabry patients, and to record long-term effects of Fabry-specific therapies.
RESULTS: One-hundred and thirty-nine symptomatic Fabry disease patients who had a smartphone (iPhone or android) were invited to download the app. Sixty-seven patients (26 males and 41 females; median age, 49 years [range, 20-81]) downloaded and tracked the Fabry App at least once. The median frequency of use per patient was 6 (range, 1-629). Pain in the hands and abdominal pain were significantly higher (p = 0.009 and p = 0.007, respectively) in patients with classic phenotype compared with patients with non-classic phenotypes.
CONCLUSIONS: We demonstrated the feasibility and acceptability of a smartphone app to facilitate the remote assessment and monitoring of Fabry disease symptom burden on a daily/weekly basis, as an alternative to the current standard of care that requires patients to recall their symptoms during 6 to 12 monthly annual clinic visits. Patients who were more likely to use the app had greater disease burden. This innovation has the potential to assess disease progression, early therapeutic intervention, thereby decreasing the burden of morbidity and mortality among Fabry patients, and to record long-term effects of Fabry-specific therapies.
摘要：
背景：法布里病是一种罕见的遗传性疾病，由缺乏α-半乳糖苷酶A酶活性引起。常见的疾病表现是出汗异常，神经性疼痛,胃肠道症状和疲劳。在当前的临床环境中，卫生保健专业人员在评估症状负担方面面临挑战。近年来，对监测特定疾病症状的替代方法的需求有所加快。智能手机技术为护理和监测的连续性提供了潜力。作为质量改进项目的一部分，与软件公司(HealthTouchLtd)合作开发了一款针对疾病的应用,并于2018年5月提供给患者使用.Fabry移动应用程序记录了五个类别：疼痛，胃肠道症状,出汗,活动水平,medications.Fabry病患者有胃肠道和疼痛症状，参加皇家自由伦敦NHS基金会信托基金的溶酶体贮积症单位进行了审查，以评估资格，并邀请下载应用程序记录他们的症状（活动，出汗,疼痛和胃肠道）和药物。患者生成的数据被传输到安全的网站供临床医生审查。
结果：有智能手机（iPhone或Android）的一百三十九名有症状的法布里病患者被邀请下载该应用程序。67例患者（男性26例，女性41例；中位年龄，49年[范围，20-81]）下载并跟踪FabryApp至少一次。每位患者的中位使用频率为6(范围，1-629）。与非经典表型患者相比，经典表型患者的手疼痛和腹痛明显更高（分别为p=0.009和p=0.007）。
结论：我们证明了智能手机应用程序的可行性和可接受性，以促进每日/每周远程评估和监测法布里疾病症状负担，作为当前护理标准的替代方法，该标准要求患者在6至12个月的年度门诊就诊中回忆其症状。更有可能使用该应用程序的患者的疾病负担更大。这项创新有可能评估疾病进展，早期治疗干预，从而降低了法布里患者的发病率和死亡率，并记录法布里特定疗法的长期效果。
结果：有智能手机（iPhone或Android）的一百三十九名有症状的法布里病患者被邀请下载该应用程序。67例患者（男性26例，女性41例；中位年龄，49年[范围，20-81]）下载并跟踪FabryApp至少一次。每位患者的中位使用频率为6(范围，1-629）。与非经典表型患者相比，经典表型患者的手疼痛和腹痛明显更高（分别为p=0.009和p=0.007）。
结论：我们证明了智能手机应用程序的可行性和可接受性，以促进每日/每周远程评估和监测法布里疾病症状负担，作为当前护理标准的替代方法，该标准要求患者在6至12个月的年度门诊就诊中回忆其症状。更有可能使用该应用程序的患者的疾病负担更大。这项创新有可能评估疾病进展，早期治疗干预，从而降低了法布里患者的发病率和死亡率，并记录法布里特定疗法的长期效果。
