ArticlePloS one2022
Why does it take so long for rare disease patients to get an accurate diagnosis?-A qualitative investigation of patient experiences of hereditary angioedema.
Article in PloS one, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers, 2 of them syntheses that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
26 citing papers in PubMed, 2 syntheses or guidelines pooled it, 43 citations in OpenAlex.
- Capturing Real-World Rare Disease Patient Journeys: Are Current Methodologies Sufficient for Informed Healthcare Decisions?Journal of evaluation in clinical practice · 2025Pooled it
- Diagnostic delay of sarcoidosis: an integrated systematic review.Orphanet journal of rare diseases · 2024Pooled it
- Rare diseases in Brazil: a nationwide analysis of the diagnostic odyssey.Journal of community genetics · 2026Article
- Repercussions of Diagnostic Delay in Rare Diseases.Journal of genetic counseling · 2026Review
- Lived Experiences of Patients With Rare Diseases and Healthcare System Barriers: A Phenomenological Study.Journal of nursing management · 2026Article
- Article
- Therapeutic Advances in Hereditary Angioedema: A Focus on Present and Future Options.Advances in therapy · 2025Review
- Article
- Common features of rare disease patients in the emergency department: a systematised literature review.Orphanet journal of rare diseases · 2025Review
- Reductions in medical visits and hospitalizations following berotralstat initiation in patients with hereditary angioedema in the United States.Journal of managed care & specialty pharmacy · 2025Article
- Article
- Feasibility of the development and psychometric properties of a standardized screening instrument for mental disorders in patients with suspected rare diseases: results of the ZSE-DUO study.Frontiers in psychiatry · 2025Article
- New tools for diagnosis of primary immunodeficiencies: from awareness to artificial intelligence.Frontiers in immunology · 2025Review
- Review
- Patient-Oriented Questionnaires and Machine Learning for Rare Disease Diagnosis: A Systematic Review.Journal of clinical medicine · 2024Review
- Health Care Costs After Genome-Wide Sequencing for Children With Rare Diseases in England and Canada.JAMA network open · 2024Article
- Natural language processing of clinical notes enables early inborn error of immunity risk ascertainment.The journal of allergy and clinical immunology. Global · 2024Article
- Hereditary angioedema plasma proteomics following specific plasma kallikrein inhibition with lanadelumab.Frontiers in immunology · 2024Article
- A Cross-Sectional Study of Quality of Life in Patients Enrolled in the Romanian Hereditary Angioedema Registry.Cureus · 2024Article
- Effect of the addition of a mental health specialist for evaluation of undiagnosed patients in centres for rare diseases (ZSE-DUO): a prospective, controlled trial with a two-phase cohort design.EClinicalMedicine · 2023Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
3 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
introductionMany 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.
objectiveThe 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.
methodsA qualitative study using semi-structured interviews was conducted. Nine patients who took over 5 years from the presentation of initial symptoms to an HAE diagnosis participated. The contents of the interviews were subjected to an inductive contents analysis.
resultsBy analyzing the patients' struggles that were experienced during the undiagnosed period, three themes were generated: (1) acceptance and resignation towards their conditions, (2) proactive search for a cause, and (3) independent efforts outside of the hospital. While a few patients continued to seek out a diagnosis during the undiagnosed period, many had become accustomed to their health condition without suspecting a rare disease.
conclusionsWe found that one of the most important factors related to the prolonged undiagnosed period is the lack of suspicion of a rare disease by patients and their medical professionals. While current policies tend to focus on the period from suspecting rare diseases to the time of a clear diagnosis, our results strongly suggest that measures are needed to facilitate patients and clinicians to become aware of rare diseases.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.