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Delayed Diagnosis Common in Spinal Ailment

— Typical 7-year delay after symptom onset leaves patients at risk for irreversible damage

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A computer rendering of a human pelvis and spine, the sacroiliac joints and spine are highlighted in red

Despite recent advances in the understanding of axial spondyloarthritis, long delays in diagnosis persist, leaving patients at risk for impaired quality of life and irreversible spinal damage, European researchers reported.

Among patients enrolled in the European Map of Axial Spondyloarthritis (EMAS) database, the average delay in diagnosis was 7.4 years, according to Marco Garrido-Cumbrera, PhD, of the University of Seville in Spain, and colleagues.

"Many patients may undergo unnecessary and/or invasive testing and receive inadequate treatment for their condition, which may ultimately lead to poorer prognostic outcomes," the researchers wrote in the study online in .

They explained that the insidious onset of axial spondyloarthritis, which includes both radiographic and nonradiographic forms of spinal inflammation, poses significant challenges in diagnosis, and patients typically see multiple healthcare providers before the diagnosis is made. Various smaller studies have suggested that certain factors are associated with long diagnostic delays, including female sex, younger age, and the presence or absence of enthesitis and dactylitis.

To more fully determine the length of diagnostic delay and contributory factors, Garrido-Cumbrera and colleagues analyzed data from the multinational EMAS real-world sample, which is a collaboration of the University of Seville, the Axial Spondyloarthritis International Federation, and Novartis Pharma.

Participants were enrolled from 13 countries during 2017 and 2018, responding to an online questionnaire with information about sociodemographics, daily life, comorbidities, disability, and treatments. A total of 2,652 participants were recruited.

The longest average diagnostic delay was in Norway, at 10.6 years, while the lowest was in the U.K., at 2.6 years.

The mean age at symptom onset was 26.6, while the mean age at diagnosis was 34.1. Almost two-thirds of participants were women, and half were university educated. Approximately 40% had a family history of spondyloarthropathy, and 72% were HLA-B27 positive. The mean score on the Bath Ankylosing Spondylitis Activity Index at the time of enrollment was 5.5. Patients saw a mean number of about 3 healthcare practitioners before diagnosis, and 79% of patients were ultimately diagnosed by a rheumatologist.

Nonsteroidal anti-inflammatory drugs were used by 63% of patients and 37% used biologic therapies.

In a multivariate analysis, these factors were associated with a longer diagnostic delay, the researchers reported:

  • Younger age at symptom onset, β = -0.26 (95% CI -0.28 to -0.23)
  • Female sex, β = 1.34 (95% CI 0.73 to 1.96)
  • Number of healthcare practitioners seen before diagnosis, β = 1.19 (95% CI 0.95 to 1.43)

There was a significant interaction between sex and the number of healthcare practitioners seen, so the authors also performed an analysis stratified by sex. In that model, younger age had a stronger association for women (β = -0.32, 95% CI -0.35 to -0.28) than for men (β = -0.18, 95% CI -0.21 to -0.14). Moreover, delay was more strongly associated with a greater number of healthcare practitioners seen by women (β = 1.31, 95% CI 1 to 1.62) than by men (β = 0.92, 95% CI 0.56 to 1.29).

Garrido-Cumbrera and co-authors noted that symptoms typically first develop when patients are in their mid-20s, and the average subsequent 7 years are spent with "intermittent pain, inflammation, fatigue, numerous medical tests, unnecessary visits to specialists, uncertainty, anxiety, depression, and impact on quality of life."

In addition, because disease onset often occurs during the years when patients are beginning their careers, the long-term professional and financial impact can be substantial.

The association of longer diagnostic delay with younger age at symptom onset may appear paradoxical, the researchers wrote. "Most likely, back pain in young adults is often neglected or is not taken seriously enough to initiate referral to a rheumatologist or a diagnostic process to confirm or exclude an inflammatory nature of back pain."

The finding of longer delays in women may be explained by factors such as the usual assumption that axial spondyloarthritis is a "male disease" and because women tend to have more frequent nonradiographic disease and comorbidities such as fibromyalgia.

"Early detection and diagnosis of axial spondyloarthritis are paramount to its primary treatment goal, which is to maximize long-term health, quality of life, and prevent progressive structural damage," the investigators concluded, adding that education of healthcare practitioners about the need for prompt referral to a rheumatologist will be key to shortening diagnostic delays.

A limitation of the study, the team noted, was the reliance on self-reported data.

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    Nancy Walsh earned a BA in English literature from Salve Regina College in Newport, R.I.

Disclosures

The study was funded by Novartis Pharma AG.

The authors reported no conflicts of interest.

Primary Source

Rheumatology

Garrido-Cumbrera M, et al "Identifying parameters associated with delayed diagnosis in axial spondyloarthritis: data from the European Map of Axial Spondyloarthritis" Rheumatology 2021; doi: 10.1093/rheumatology/keab369.