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Cited by 9Systemic Lupus Erythematosus ResearchVasculitis and related conditionsBlood Coagulation and Thrombosis Mechanisms

Prevalence and adverse consequences of delayed diagnosis and misdiagnosis in thrombotic antiphospholipid syndrome. An observational cohort study and a review of the literature

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Ruffatti, Amelia, Tonello, Marta, Calligaro, Antonia, Del Ross, Teresa, Favaro, Maria, Zen, Margherita, Hoxha, Ariela, Alaibac, Mauro·2023·Clinical Rheumatology
DOI 10.1007/s10067-023-06699-1PMC PMC10587197
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Abstract

Obiectives: This study aims to prospectively evaluate the frequency and adverse consequences of diagnostic delay and misdiagnosis in a cohort of patients with thrombotic antiphospholipid syndrome (TAPS). In addition, a systematic review of the literature concerning the diagnostic delay and misdiagnosis of TAPS was carried out. Methods: Patient enrollment occurred between 1999 and 2022. The study group was formed by TAPS patients whose diagnosis was delayed and those who were misdiagnosed. The control group was made up of patients who were timely and correctly diagnosed with TAPS. Results: The literature review showed 42 misdiagnosed patients, 27 of them were in one retrospective cohort study and 15 in 13 case reports. One hundred sixty-one out of 189 patients (85.2%) received a timely, correct diagnosis of TAPS; 28 (14.8%) did not. The number of patients with diagnostic issues was significantly higher for the first period (1999–2010), and the number of patients with a correct diagnosis was significantly higher for the second one (2011–2022). When the clinical and laboratory characteristics of the patients with delayed diagnosis were compared with those with misdiagnosis, there was a significantly higher number of severe adverse consequences characterized by permanent disability or death in the latter group. The two most common types of misdiagnoses were systemic lupus erythematosus (6 cases, 46.1%) and cardiovascular diseases (4 cases, 30.8%). Conclusions: The study demonstrates that although knowledge about TAPS has improved over time, diagnostic delays and errors remains to be addressed as they are strongly associated to adverse consequences. Key Points•Although knowledge of thrombotic antiphospholipid syndrome has improved over time, it is still limited.•Diagnostic delay and misdiagnosis are still an important issue that remains to be addressed as they are strongly associated to adverse consequences.•The three more frequent misdiagnoses are multiple sclerosis, systemic lupus erythematosus and cardiovascular diseases.

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  • The quality of life of PAPS patients has significantly improved as a result of an early diagnosis and effective treatment.

    “As we know that the quality of life of PAPS patients has significantly improved as a result of an early diagnosis and effective treatment [10]”

    From Insights into the 2023 ACR/EULAR antiphospholipid syndrome classification criteria: findings from a cohort of 205 patients with primary APS (2025) · cites this paper as [10]

    The Results report no further thrombosis after correct diagnosis and appropriate treatment, and the Discussion says timely diagnosis and treatment can improve patients’ prognoses. The paper does not report a measured, statistically significant improvement in quality of life for patients with primary APS (PAPS). (LLM, conf=0.85)

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Cited by

Sorted by citations

Authors
Ruffatti, A., Tonello, M., Calligaro, A., Del Ross, T., Favaro, M., Zen, M., Hoxha, A., & Alaibac, M.
Affiliations
Azienda Ospedale - Università Padova (IT)
Corresponding author
Ruffatti, Amelia
ORCID
Venue
Clinical Rheumatology
Publisher
Springer Science and Business Media LLC
Published
2023-07-15
Volume
42
Issue
11
Pages
3007-3019
ISSN
  • 0770-3198 (ISSN-L)
  • 1434-9949
DOI
10.1007/s10067-023-06699-1
PMC
PMC10587197
OpenAlex
W4384407896
Cited by
9
References
3
Citations by year
2025: 5 · 2024: 4
FWCI
0.39
Type
journal article
Language
en
Open access
Licence
Locations
  • Clinical Rheumatology (publishedVersion, cc-by)
  • PubMed Central (publishedVersion, cc-by)
  • PubMed (publishedVersion)
  • Padua Research Archive (University of Padova) (submittedVersion, cc-by)
Funders
Università degli Studi di Padova
Topics
  • Health Sciences › Medicine › Rheumatology › Systemic Lupus Erythematosus Research
  • Health Sciences › Medicine › Pulmonary and Respiratory Medicine › Vasculitis and related conditions
  • Health Sciences › Medicine › Hematology › Blood Coagulation and Thrombosis Mechanisms
Keywords
thrombotic antiphospholipid syndrome, delayed diagnosis, misdiagnosis, systemic lupus erythematosus, cardiovascular disease, multiple sclerosis, mortality and disability, temporal trends in diagnosis
MeSH terms
Cardiovascular Diseases, Diagnostic Errors, Humans, Lupus Erythematosus, Systemic, Retrospective Studies, Thrombosis, Cohort Studies, Prevalence, Antiphospholipid Syndrome, Delayed Diagnosis, Observational Studies as Topic

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