The Challenges of Diagnosing Autoimmune Diseases

Amir Ben Tov1,2,3, Sivan Gazit1, Shlomit Steinberg-Koch4, Benny Getz4, Yonatan Jenudi4, Or Ramni4, Tahel Ilan4, Shomron Ben-Horin2,5 1Maccabi Institute for Research & Innovation, Maccabi Healthcare Services, Tel Aviv, Israel. 2Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel. 3Pediatric Gastroenterology Unit, Dana-Dwek Children’s Hospital, Tel-Aviv Sourasky Medical Center, Tel Aviv, Israel. 4Predicta Med, LTD. 5Gastroenterology Department, Sheba Medical Center, Tel Hashomer, Israel.

Background

Although 3,000,000 Americans are afflicted with Inflammatory Bowel Disease (IBD) encompassing Crohn’s Disease (CD) and Ulcerative Colitis (UC)1, timely diagnosis is a challenge due to non-specific and overlapping symptoms.2 More than 20% of patients may be initially misdiagnosed3causing delayed diagnosis and treatment, potentially leading to increased risk of complications2and irreversible mucosal damage.4 Artificial intelligence (AI) models can alert physicians to patients who would otherwise be misdiagnosed, potentially improving patient outcomes and reducing costs. We aimed to develop PredictAI, a proprietary AI Gradient Boosted Decision Tree based machine learning algorithm and test its accuracy in identifying undiagnosed CD and UC in the primary care setting.

Methods

This was a retrospective study of 2,471,267 patients’ electronic medical records (EMR) from Maccabi Healthcare Services in Israel. Sufficient data was available between the years 2010- 2020, of which 2 consecutive years (2015-2016) were pre-assigned to the test set. Inclusion criteria were: (i) CD or UC ICD code as defined by Maccabi’s Registry,5(ii) no other autoimmune disease diagnosis, (iii) at least 4 years of data antedating first suspicion by primary care physician (PCP) of IBD were available. First suspicion was defined as any diagnostic test, procedure, or referral to a specialist, indicating suspicion of IBD. Here we included adult data only.

Conclusions

PredictAI accurately identified CD and UC diagnosis in 17-38% of patients presenting to primary care up to 4 years prior to PCP’s initial suspicion, potentially reducing time to diagnosis.

 

References

1. Dahlhamer JM, Zammitti EP, Ward BW, Wheaton AG, Croft JB. Prevalence of Inflammatory Bowel Disease Among Adults Aged ≥18 Years – United States, 2015. MMWR Morb Mortal Wkly Rep. 2016 Oct 28;65(42):1166- 1169. doi: 10.15585/mmwr.mm6542a3. PMID: 27787492.

 

2. Feuerstein JD, Cheifetz AS. Crohn Disease: Epidemiology, Diagnosis, and Management. Mayo Clin Proc. 2017 Jul;92(7):1088-1103. doi: 10.1016/j.mayocp.2017.04.010. Epub 2017 Jun 7. PMID: 28601423.

 

3. Wylezinski LS, Gray JD, Polk JB, Harmata AJ, Spurlock CF 3rd. Illuminating an Invisible Epidemic: A systemic Review of the Clinical and Economic Benefits of Early Diagnosis and Treatment in Inflammatory Disease and Related Syndromes. J Clin Med. 2019;8(4):493. Published 2019 Apr 11. doi:10.3390/jcm8040493

 

4. Zane Gallinger, Ryan Ungaro, Jean-Frederic Colombel, Robert S Sandler, Wenli Chen, Delayed Diagnosis of Crohn’s Disease is Common and Associated with Increased Risk of Disease Complications. Inflammatory Bowel Diseases, Volume 25, Issue Supplement_1, February 2019, Pages S14–S15.

 

5. Foundation of a Registry for Inflammatory Bowel Disease at Maccabi Healthcare Services- Connecting Hospitals with Community Medicine; https://cdn.doctorsonly.co.il/2018/10/13_revital-krib.pdf

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