The Cost of Diagnostic Delay and Error

A 17-year-old boy presented to his primary care physician with rectal pain, intermittent rectal bleeding, and loose stools. He denied abdominal pain, fever, weight loss, or sexual activity, and his physical examination revealed anal tenderness to palpation, with no visible tears, bulges, or lesions. He was prescribed escalating treatments for possible hemorrhoids but had minimal improvement over 2 weeks. After a telehealth consult with gastroenterology (because of coronavirus disease 2019 [COVID-19] restrictions at the time), blood and stool samples were obtained for workup of inflammatory bowel disease (IBD), celiac disease, and infectious colitis, and urine samples were sent to evaluate for sexually transmitted infections (STIs), all of which were unremarkable. He presented to the emergency department (ED) 1 week later with ongoing symptoms, but a computed tomography scan of his abdomen revealed no acute findings.

After being discharged from the hospital with management recommendations from the ED and gastroenterology, his pending fecal calprotectin (FC) concentration measurement returned as elevated. Social hurdles, compounded by the need to socially distance given the COVID-19 pandemic, made it difficult for the patient to return to the hospital for a diagnostic colonoscopy. He was prescribed empirical oral prednisolone for possible distal colitis secondary to IBD, with follow-up scheduled via telehealth. He presented to the ED after 10 days of steroids, with continued severe rectal pain for what had now been a duration of 1.5 months. His test results were positive for severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) at this time, although he did not have any clinical manifestations of COVID-19 or multisystem inflammatory syndrome in children, and was admitted to the gastroenterology service for further management.

Initial inpatient workup with magnetic resonance enterography revealed circumferential mural thickening of the distal rectum suggestive of proctitis. Flexible sigmoidoscopy revealed only an internal hemorrhoid, and surgical biopsy specimens revealed no evidence of IBD, with normal rectal and colonic mucosa. The patient was transferred to the hospitalist team, with a working diagnosis of internal hemorrhoids. Hospital policy enforcing full, airborne personal protective equipment (PPE) and rooming-in with family members given a positive SARS-CoV-2 status made it difficult for providers to confidentially interview the patient and physically examine him each day. Eventually, psychiatry was consulted for possible somatization disorder versus drug-seeking behavior, given his continued reliance on morphine for pain control, but their evaluation revealed no contributing psychiatric illness. On the 10th day of admission, a new hospitalist team started service and ordered a rectal swab for nucleic acid amplification testing, which returned positive for Neisseria gonorrhoeae and Chlamydia trachomatis. On further questioning, the patient endorsed receptive anal intercourse 4 months before. He was given antibiotic therapy and discharged from the hospital with improved pain. The total cost of outpatient and inpatient care was $40 017.43 (Table 1).

This case represents a substantial delay in diagnosis, which caused extensive testing, prolonged hospital stay, unnecessary treatments, and ongoing patient suffering. It exposed the patient to invasive procedures and potentially harmful medications, prolonged the course of his underlying illness, and, overall, caused significant psychosocial stress for him and his family. Beyond this direct impact on the patient and family, the investigations, treatments, and hospitalization costs for this patient (Table 1) were a product of various diagnostic errors leading to delayed diagnosis. In recent work, researchers highlight that the charge of the hospital bed averages 52.5% to 70.3% of the total admission cost, making it the most important contributor to inpatient costs,³  which could have likely been avoided for this patient with a timelier diagnosis during 1 of the many touchpoints within the medical system.

Eliciting a sexual history from adolescents can be challenging because they may fear being judged, do not trust their privacy, or are unsure of their sexual identity.⁴  However, it is important to discuss because adolescence is a key period for developing risky behaviors. Infections in youth and young adults aged 15 to 24 years account for 50% of newly diagnosed STIs annually in the United States,^5,6  and infection rates of N gonorrhoeae among male individuals increased 78.7% from 2014 to 2018.^5,7  The 2017 Youth Risk Behavior Surveillance System data reveal that 2% of male youth identify as gay, 3% as bisexual, and among the total male youth who have ever had sexual contact, 7% report that it was with the same sex only or both sexes.⁸ 

Studies reveal that pediatricians are 3 times more likely to elicit a sexual history from a female patient than a male patient,⁵  and the average time spent discussing sexuality was only 36 seconds.⁹  In this case example, difficulty ensuring private conversations with increased use of video and telehealth visits because of COVID-19 restrictions likely further contributed to the challenges of obtaining an accurate sexual history.¹⁰  This concern for lack of privacy continued to be an issue when the patient was hospitalized because he was roomed-in with family members given a positive SARS-CoV-2 status. This environment, coupled with clinicians donned in full PPE likely further hindered the team’s ability to collect sensitive information. If this patient’s sexual history had been elicited, it might have prompted clinicians to consider and investigate appropriate testing (see below) and treatment, potentially eradicating the need for hospitalization.

A urine sample was sent for chlamydial and gonococcal nucleic acid amplification testing during the initial workup, as opposed to a rectal swab for culture and/or polymerase chain reaction for localized infection. This oversight likely reflects a no-fault error, or error that stems from a true lack of knowledge of the most appropriate test. The team considered STIs in the differential but did not investigate it fully. In a study of 6434 men who have sex with men, researchers found that 53% C trachomatis and 64% N gonorrhoeae infections were at nonurethral sites and would have been missed if the traditional approach to screening by testing only urethral specimens had been used.¹¹  Routine annual screening for STIs at extragenital sites for men who have sex with men is thus recommended.¹² 

Calprotectin is a major protein in neutrophils, which leaks into the intestinal lumen and feces during active inflammation of the mucosa. FC has been shown to have >90% sensitivity and specificity for differentiating inflammatory gastrointestinal disease from functional disorders like irritable bowel syndrome in adults, with a slightly lower specificity (76%) for the same in children and teenagers.¹³  Therefore, a normal FC has some utility in determining which patients may not benefit from an invasive endoscopy because they more likely have irritable bowel syndrome.¹⁴  However, although it is popularly used as part of the diagnostic workup for IBD, FC may be elevated in infectious colitis, colorectal cancers, and nonsteroidal antiinflammatory drug use,¹⁵  and it is therefore not specific for IBD versus other causes of intestinal inflammation.

Delays in appropriate diagnosis and patient care seem inevitable in the climate of fear surrounding COVID-19. By June 2020, because of concerns about COVID-19, an estimated 41% of US adults had delayed or avoided medical care, including urgent or emergency care (12%) and routine care (32%).¹⁶  In an attempt to maintain social distancing and preserve PPE, many hospitals mandated avoidance of nonessential health services, which likely played a role in delaying the patient’s magnetic resonance enterography and colonoscopy, although these tests were superfluous in hindsight.

This case affords multiple learning points by examining factors that contributed to diagnostic error. In accordance with the American Academy of Pediatrics guidelines,¹⁷  ensuring privacy during adolescent patient interviews and asking open-ended questions about sexuality might have prompted the clinical suspicion of STI proctitis earlier. Although these tasks can prove especially challenging given COVID-19 restrictions,¹⁰  telehealth is evolving into an integral health care modality. Therefore, strategies like structured telemedicine training programs aimed to improve providers’ skillset in collecting sensitive information, increasing telehealth accessibility to patients, and making virtual platforms more user-friendly should be considered as opportunities to decrease delays in both diagnosis and access to health care. Finally, the knowledge of the appropriate test for STI proctitis was essential to the management of this patient. Although most previous attempts to reduce cognitive errors have offered little benefit,^18,19  there is likely still value in transparent reporting and discussion of diagnostic errors to improve clinical knowledge, patient outcomes and, as this case emphasizes, health care expenditures.

We thank the patient and his guardian for consenting to share the details of his case and Ryan Davis, director of finance and operations, for providing hospital data on cost estimates.