Although the incidence and prevalence of inflammatory bowel disease (IBD) have increased in recent years,1–3 it continues to be an infrequent disease at the primary care (PC) level. In addition, primary care paediatricians (PCPs) encounter and manage diseases that are much more prevalent and with features similar to those of IBD on a daily basis, such as functional abdominal pain disorders, which include functional dyspepsia, irritable bowel syndrome, abdominal migraine and functional abdominal pain not otherwise specified, with a prevalence of 10%–20% in the paediatric population.4 Another critical aspect is the heavy caseloads that PCPs are forced to manage, of about 1002 individuals with an official public health card (PHC) per PCP (source: Statistics Webpage of the Ministry of Health, Social Services and Equality of Spain). These 3 factors are among the most important reasons for the low level of suspicion and therefore the delayed diagnosis of these diseases. We ought to mention that efforts must also be made at the hospital level, including emergency care departments, inpatient services and outpatient clinics, to reduce the time to diagnosis (TD) of IBD. Since delays in diagnosis have deleterious consequences in the short, medium and long term, it is important that we identify and understand the causes of delays in order to establish adequate strategies to reduce the time elapsed between the onset of symptoms and the confirmation of diagnosis by a paediatric gastroenterologist.

The TD of IBD is particularly relevant in children. Days of missed school due to disease, the undue prolongation of the diagnostic process and social isolation are some of the potential consequences of delayed diagnosis. Untreated symptoms, such as pain or diarrhoea, can have a direct impact on the physical and psychosocial development of children and adolescents with IBD. Delayed diagnosis is associated with an increased risk of complications,5,6 growth failure and delayed puberty,7 more extensive disease,8–10 a poorer response to medical treatment,8 an increased need of surgery5 and decreased health-related quality of life.11 However, it does not seem to increase the risk of colectomy in patients with ulcerative colitis (UC).12 The onset of paediatric IBD (PIBD) usually takes place in critical periods of life, characterised by physical changes (such as a high growth velocity), and psychosocial development, when the patient is developing a sense of self, potentially leading to role confusion. Growth failure, disorders of bone metabolism, delayed puberty, malnutrition and micronutrient or vitamin deficiencies are frequently associated with PIBD. Growth failure, which is less common in UC compared to Crohn’s disease (CD), may be present at the time of diagnosis or occur during the follow-up. It is identified in 40%–50% of children with CD, persists in adulthood in 15%–20% of patients, and results in a final height below the target height in 20%. The TD of CD is one of the determinants of such growth failure.13,14 Thus, a large case series revealed a prevalence of growth failure of 9.4% in patients diagnosed within 3 months of onset, 15.7% in those diagnosed 3–6 months after onset and 22.3% in those diagnosed more than 6 months from onset.15 Delayed puberty generates feelings of isolation or rejection, more frequent than bullying, with a negative impact on relationships with peers. These patients have poor body image, decreased self-esteem, a higher risk of depression and anxiety about the future and, in the long term, missed opportunities in social and personal development.

Delay in diagnosis (DD) has been defined as the time elapsed from the onset of symptoms to diagnosis. In our opinion, this is an unclear term, since for instance, in the hypothetical case that a patient with UC were diagnosed in 2 weeks, this time would be referred to as a “delay”, incorrectly in our opinion. To avoid confusion, it may be better to use the term TD to refer to the time elapsed between onset of symptoms and diagnosis (Fig. 1) and DD as wasted time in diagnosis that is not justifiable including missed opportunities for diagnosis during medical care episodes. The latter includes patient-related delays and health care system-related delays. We defined missed opportunities for diagnosis as any contacts with the health care system in which the diagnostic evaluation was not initiated despite the presence of one or more signs or symptoms suggestive of IBD being reported during the history taking. We defined medical care episodes as any physician-patient interaction in primary care, emergency care or hospital care settings. Determining what constitutes a reasonable TD is challenging, as this time will depend on each patient and clinical condition. The TD includes the care system response time, defined as those periods in which the patient is waiting to undergo diagnostic tests or to be seen by a specialist.

Figure 1.

Timeline to diagnosis. MOD, missed opportunities for diagnosis.

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The TD comprises different intervals that deserve individual attention (Table 1).

During interval 2, patients frequently receive one or several diagnoses as clinicians attempt to identify a plausible explanation for the clinical presentation out of a collection of diseases that are more prevalent than IBD. It is important that the duration of symptoms is established and that a diagnostic evaluation for IBD be initiated if they persist, that is, once they become an alarm sign/symptom. In other cases, the alarm signs are abnormal laboratory findings (Table 5).

None of the signs, symptoms or laboratory findings described above are pathognomonic for IBD, which is why efforts are being made to develop and validate algorithms that would increase the level of suspicion of physicians and PCPs and other specialists, facilitating the early referral of patients. Danese et al.38 developed the Red Flag Index, consisting of 8 items rated on a scale from 2 to 5 points. A Red Flag Index greater than 8 points can discriminate adult patients with CD from those with suggestive symptoms with a sensitivity and a specificity of 94%, a positive likelihood ratio of 5.1 and a negative likelihood ratio of 0.066. Holtman et al.35 conducted a prospective study that included 90 patients with gastrointestinal symptoms (prolonged diarrhoea or chronic/recurrent abdominal pain) referred from PC for assessment in a paediatric gastroenterology unit. The authors reported that adding faecal calprotectin results to the alarm symptoms (Table 4) significantly increased the area under the curve from 0.80 (0.67–0.92) to 0.97 (0.93–1.00), which did not occur with the inclusion of CRP. Decision curves confirmed that the combination of alarm symptoms with faecal calprotectin produced the diagnostic test strategy with the highest net benefit at reasonable threshold probabilities.

Recently, Turner et al. developed and validated the IBD-REFER criteria to guide the selection of patients requiring referral to paediatric and adult gastroenterology units due to suspected IBD. The IBD-REFER includes 3 major criteria and 8 minor criteria, which we detail in Table 5 along with other criteria for referral published by other authors. The IBD-REFER criteria have exhibited a higher sensitivity and specificity when used both in children and adults compared to the Red Flags Index of the International Organization For the Study of Inflammatory Bowel Disease.37

In light of all of the above, we believe that collaboration in the framework of an interdisciplinary team is necessary to achieve the proposed objectives. The following are some of the strategies that we consider essential:

• a)

  Development and dissemination of guidelines and protocols in collaboration with PC to facilitate the early identification of these patients (Fig. 2).39

  
  

  Figure 2.

  Leaflet summarising the alarm signs and symptoms, diagnostic tests to be performed and criteria for early referral.

  (0.49MB).
• b)

  Establishment of quick and effective channels of communication between PC centres, hospitals and referral centres to allow early referral of these patients.40

• c)

  Develop alternative referral routes to reduce the time to diagnosis (delivery of urgent or acute care by nursing staff, online visits, phone visits, etc.).

The authors have no conflicts of interest to declare.