探索Gaucher病的延迟诊断:来自社区调查的见解和潜在的解决方案
Diana Paulina Peña Aragón1, Tanya Collin-Histed2, Magy Abdelwahab3
1International Gaucher Alliance, Cuernavaca, Mexico. paulina@gaucheralliance.org.
Orphanet journal of rare diseases
|February 20, 2026
概括
对高氏病的诊断延迟是常见的,许多患者等待一年以上. 提高医生意识和沟通是加速诊断和治疗这种罕见遗传疾病的关键.
科学领域:
- 罕见疾病是一种罕见的疾病.
- 溶酶体储存障碍 溶酶体储存障碍
- 遗传性疾病 遗传性疾病
背景情况:
- 氏病是一种罕见的溶酶体储存障碍,由于β-葡萄糖核糖酶活性不足,导致脂肪沉积和器官损伤.
- 氏病的诊断旅程往往是漫长而具有挑战性的,影响患者和家人.
- 国际高氏病联盟 (IGA) 调查了高氏病患者,以了解诊断障碍.
研究的目的:
- 调查诊断高氏病所面临的挑战和延迟.
- 识别导致诊断奥德赛的因素.
- 为促进及时诊断和专家管理的战略提供信息.
主要方法:
- 国际高氏病联盟 (IGA) 在142名高氏病患者中进行了一项调查,其中包括患者,家庭和护理人员.
- 该调查以英语发行,并提供西班牙语翻译,由来自40个国家的受访者完成.
- 数据是在2024年11月至2025年2月期间收集的,以分析诊断经验.
主要成果:
- 绝大多数 (58%) 的受访者经历了超过一年的诊断延迟.
- 医生意识较低和专业间沟通不良被确定为延迟的主要原因.
- 许多患者在诊断时 (17%) 没有意识到Gaucher病的遗传性质,这阻碍了家庭查和计划.
结论:
- 针对医疗保健专业人员,包括二级护理临床医生进行有针对性的宣传活动,对于减少诊断延迟至关重要.
- 加强对遗传遗传的患者教育可以促进家庭内早期诊断.
- 各国的具体见解和以患者为中心的倡导对于改善Gaucher病的准入和及时诊断至关重要.
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