在患有法布里病的患者中表征疼痛:来自美国基于网络的横截面调查的发现

相关实验视频

Updated: Sep 19, 2025

09:00

Author Spotlight: Quantifying Pain Experience – An Illustrative Approach Using the Pain Body Diagram

Published on: July 7, 2023

3.8K

Eric Wallace¹, Dawn Laney², Ibrahim Warsi³

¹Division of Nephrology, Department of Medicine, University of Alabama, Birmingham, AL, USA.

Orphanet journal of rare diseases

|June 16, 2025

概括

费布里病 (FD) 疼痛通常是触发的,并且在不同性别和表型中呈现类似的情况. 大多数患者经历了FD特异性治疗,如阿加尔西达β,症状得到改善.

科学领域:

遗传学是一个遗传学.
代谢障碍代谢障碍代谢障碍
神经学神经学

背景情况:

法布里病 (FD) 是一种罕见的遗传疾病,由GLA基因变异引起,导致有毒代谢物积累.
疼痛是FD的主要症状,患者表现出不同的疼痛经历.
了解FD的疼痛概况对于有效的患者管理至关重要.

研究的目的:

描述美国FD患者的疼痛和疼痛危机.
探索性别,疾病表型和治疗对疼痛的影响.
评估患者对FD特定疗法的满意度.

主要方法:

对66名FD参与者进行了一项横截面的,基于网络的调查.
收集的数据包括疼痛特征,疼痛危机细节和治疗结果.
统计分析探讨了基于性别和表型的变化.

主要成果:

参与者经常在四肢和腹部感到疼痛,通常是触发或突然的.
疼痛危机,以灼热,刺痛或刺痛的感觉为特征,很常见,特别是在下肢.
大多数参与者 (81.0%) 在FD特定治疗12个月后报告症状改善,对agalsidase beta的满意度很高.

结论:

在FD中的疼痛主要是触发的,并且在性别和表型之间显示一致的配置文件.
疼痛负担和危机经历在性别之间是可比的,尽管在子组内异质.
特定于FD的治疗方法,包括beta agalsidase,显示出有效性和高患者满意度.

关键词:

腹部疼痛腹部疼痛费布里病是什么意思费布里病是什么意思神经病变性疼痛神经病变性疼痛疼痛疼痛疼痛疼痛疼痛危机疼痛危机患者报告的患者报告

相关概念视频

01:21

Peripheral Arterial Disease II: Clinical Manifestations and Diagnostic Evaluation

Clinical manifestationsPeripheral Arterial Disease (PAD) manifests through a range of symptoms, from the characteristic intermittent claudication to atypical presentations and severe complications in advanced stages. Intermittent claudication, a hallmark symptom of PAD, presents as exercise-induced muscle pain that typically resolves within minutes of rest. This pain is reproducible and stems from inadequate blood flow, leading to the accumulation of lactic acid produced during anaerobic...

01:25

Ultrasound II: Endoscopic Ultrasound and FibroScan

210

Endoscopic Ultrasound (EUS) and FibroScan are valuable diagnostic tools in gastroenterology and hepatology, each with specific applications and techniques.
Endoscopic Ultrasound (EUS):

210

01:23

Assessment of the Cardiovascular System I: Subjective Data

477

A thorough health history and physical assessment are essential for identifying cardiovascular disease (CVD) symptoms and distinguishing them from other health issues.
Initial Enquiry
Ask the patient about their primary concern and thoroughly explore all reported symptoms.
Medical History
Investigate past illnesses affecting the cardiovascular system, such as angina, anemia, rheumatic fever, congenital heart disease, stroke, thrombophlebitis, dysrhythmias, varicosities
Inquire about symptoms...

477