ArticleOrphanet journal of rare diseases2021
Reducing the diagnostic delay in Antiphospholipid Syndrome over time: a real world observation.
Article in Orphanet journal of rare diseases, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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Who cites it
10 citing papers in PubMed.
- Caveolin-1 as a Marker of Endothelial Damage in Primary Antiphospholipid Syndrome Nephropathy.Kidney medicine · 2026Article
- [Clinic behavior and therapeutic status of patients with antiphospholipid syndrome].Beijing da xue xue bao. Yi xue ban = Journal of Peking University. Health sciences · 2025Article
- Unmet needs and challenges in the diagnosis and management of antiphospholipid syndrome: a qualitative stakeholder study within the ReCONNET framework.Lupus science & medicine · 2025Article
- Identifying Parameters Associated with Delayed Diagnosis in Thrombotic Antiphospholipid Syndrome: Data from China Prospective APS Cohort.Advances in therapy · 2025Article
- Loss of opportunities in the diagnosis and treatment of primary obstetric antiphospholipid syndrome (POAPS): from theory to reality.Clinical rheumatology · 2024Article
- Prevalence and adverse consequences of delayed diagnosis and misdiagnosis in thrombotic antiphospholipid syndrome. An observational cohort study and a review of the literature.Clinical rheumatology · 2023Review
- Article
- Review
- Rare Diseases: Needs and Impact for Patients and Families: A Cross-Sectional Study in the Valencian Region, Spain.International journal of environmental research and public health · 2022Article
- Diagnostic Process in Rare Diseases: Determinants Associated with Diagnostic Delay.International journal of environmental research and public health · 2022Article
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7 authors.
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Abstract
backgroundAntiphospholipid Syndrome (APS) is a rare autoimmune disorder with an estimated prevalence of 40-50 cases per 100.000 persons. Patients suffering from low prevalence diseases are more likely to face diagnostic challenges, given the limited knowledge of most clinicians. The main aim of this study was to investigate the time between symptoms occurrence and the diagnosis of APS patients using the Piedmont and Aosta Valley Rare Disease Registry. Secondly, to evaluate the individual impact of the diagnostic gap by gathering patients' personal experiences through a self-administered questionnaire.
resultsData from the Piedmont and Aosta Valley Rare Disease Registry was used. In addition, personal experiences were analyzed through a self-administered questionnaire. A total of 740 APS patients included in the Piedmont and Aosta Valley Rare Disease Registry were analyzed. Diagnostic delay (as defined by time between symptoms' occurrence and the diagnosis of APS) was significantly reduced over time. In particular, when comparing the diagnostic delay between patients diagnosed between 1983 and 1999 and patients diagnosed between 2000 and 2015, we found a significant statistical difference (Mann-Whithey U Test; mean rank 1216.6 vs. 1066.9, respectively; p < 0.0001). When analyzing the self-administered questionnaires, patients with a perception of having suffered for a diagnostic delay had a higher prevalence of symptoms suggestive of an autoimmune condition but not highly suggestive of APS (45%), followed by "extra criteria" APS manifestation (30%) and by thrombotic events (25%). The first clinical manifestation of patients who did not have the perception of having suffered a diagnostic delay was thrombotic events (45.5%), followed by autoimmune manifestation not linked to APS (45.5%), and "extra criteria" APS manifestations (9%).
conclusionsWhile the diagnostic delay of APS has been reduced during the last years, the time between symptoms occurrence and the diagnosis of rare diseases still represents a critical issue to be addressed in order to prevent major complications.
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