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. 2022 Nov 17;17(1):418.
doi: 10.1186/s13023-022-02530-3.

Diagnostic delay in rare diseases: data from the Spanish rare diseases patient registry

Juan Benito-Lozano  1   2 , Blanca López-Villalba  3 , Greta Arias-Merino  1 , Manuel Posada de la Paz  1 , Verónica Alonso-Ferreira  4   5
Affiliations

Diagnostic delay in rare diseases: data from the Spanish rare diseases patient registry

Juan Benito-Lozano et al. Orphanet J Rare Dis. .

Abstract

Background: According to the International Rare Diseases Research Consortium (IRDiRC), a known rare disease (RD) should be diagnosable within a year. This study sought: firstly, to ascertain how long it takes to obtain the diagnosis of a RD in Spain, along with its associated time trend; and secondly, to identify and measure diagnostic delay (defined by the IRDiRC as any period exceeding a year) by reference to the characteristics of RDs and the persons affected by them.

Methods: Using data sourced from the Spanish Rare Diseases Patient Registry, we performed a descriptive analysis of the time elapsed between symptom onset and diagnosis of each RD, by sex, age and date of symptom onset, and type of RD. We analysed the time trend across the period 1960-2021 and possible change points, using a Joinpoint regression model and assuming a Poisson distribution. The multivariate analysis was completed with backward stepwise logistic regression.

Results: Detailed information was obtained on 3304 persons with RDs: 56.4% had experienced delay in diagnosis of their RDs, with the mean time taken being 6.18 years (median = 2; IQR 0.2-7.5). Both the percentage of patients with diagnostic delay and the average time to diagnosis underwent a significant reduction across the study period (p < 0.001). There was a higher percentage of diagnostic delays: in women (OR 1.25; 95% CI 1.07-1.45); in cases with symptom onset at age 30-44 years (OR 1.48; 95% CI 1.19-1.84): and when analysed by type of RD, in mental and behavioural disorders (OR 4.21; 95% CI 2.26-7.85), followed by RDs of the nervous system (OR 1.39; 95% CI 1.02-1.88).

Conclusions: This is the first study to quantify time to diagnosis of RDs in Spain, based on data from a national registry open to any RD. Since over half of all persons affected by RDs experience delay in diagnosis, new studies are needed to ascertain the factors associated with this delay and the implications this has on the lives of patients and their families.

Keywords: Diagnostic delay; Patient registry; Public health; Rare diseases; Spain; Time to diagnosis.

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Conflict of interest statement

The authors declare no potential conflicts of interest.

Figures

Fig. 1
Fig. 1
Sample characteristics
Fig. 2
Fig. 2
Time to diagnosis of RDs in Spain
Fig. 3
Fig. 3
Time trend in diagnostic delay (a) and time to diagnosis b of RDs in Spain 1960–2021. *Indicates that the Annual Percent Change (APC) is significantly different from zero at the alpha = 0.05 level. Note: Patients with symptom onset before 1960 were included in that year
See this image and copyright information in PMC

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