Why does it take so long for rare disease patients to get an accurate diagnosis?-A qualitative investigation of patient experiences of hereditary angioedema.

ABSTRACT:

Introduction

Many patients with rare diseases experience a diagnostic delay. Although several quantitative studies have been reported, few studies have used a qualitative approach to directly examine how patients with rare disease obtain a diagnosis and why it takes many years. In this study, we focused on hereditary angioedema (HAE), which has been reported to have long diagnostic delays, despite the knowledge that not having an accurate diagnosis can cause life-threatening problems.

Objective

The objective of this study was to analyze patients' experiences and elucidate why it takes a long time to reach a diagnosis of HAE. We also aimed to propose possible solutions for the problem.

Methods

A qualitative study using semi-structured interviews was conducted. Nine pat

SUBMITTER: Isono M 

PROVIDER: S-EPMC8932585 | biostudies-literature | 2022

REPOSITORIES: biostudies-literature