患者对从第一个症状到遗传性脂质营养失调诊断的医疗途径的看法
Héléna Mosbah1,2,3, Camille Vatier3,4, Béatrice Andriss5
1ECEVE UMR 1123, INSERM, Université Paris Cité, 75014 Paris, France.
European journal of endocrinology
|December 21, 2023
概括
诊断遗传性脂质疏松症具有挑战性,由于其复杂的症状和医生意识有限,往往需要超过12年的时间. 改善对脂肪组织检查的医生培训是早期诊断和更好的管理的关键.
科学领域:
- 内分泌学 在内分泌学.
- 罕见疾病 罕见疾病
- 遗传学 遗传学 是一个
背景情况:
- 遗传性脂质营养不良是一种罕见的疾病,其特征是脂肪组织功能障碍.
- 这些情况导致了显著的代谢,心血管,妇科和心理并发症.
- 诊断不足仍然是一个关键问题,延迟了必要的患者护理.
研究的目的:
- 研究和描述遗传性脂质变异患者的诊断过程.
- 了解患者对诊断过程中遇到的挑战的看法.
- 确定导致这些罕见疾病诊断延迟的因素.
主要方法:
- 一项采用患者自我报告问卷的横截面研究.
- 通过法国国家罕见病参考网络招募患者.
- 收集有关症状,诊断步骤和涉及的医疗保健专业人员的数据,然后进行描述性分析.
主要成果:
- 包括109名患者 (93名部分家族性脂质缩症,16名先天性泛性脂质缩症).
- 伴随疾病的高患病率:糖尿病 (68%),高甘油三血症 (66%),高血压 (54%),不规则的月经 (60%).
- 诊断延迟的中位数是12年,其中36%的医生在五个医生之间进行了咨询;内分泌学家诊断了77%.
结论:
- 由于多系统的表现和医生知识有限,遗传性脂质变的诊断途径是漫长而困难的.
- 加强医生教育,特别是在例行脂肪组织检查方面,至关重要.
- 改进的诊断策略将有助于更早地管理脂质缩及其相关的健康问题.
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