GI diseases is the collective term for autoimmune diseases that affect the bowel and digestive tract. Many diseases fall under this umbrella term, including Celiac Disease (CD), Inflammatory Bowel Diseases (IBD) like Crohn’s Disease (CrD) and Ulcerative Colitis (UC), and Irritable Bowel Syndrome (IBS).
If undiagnosed, misdiagnosed, or inappropriately treated, these GI diseases can lead to potentially more severe complications, such as an increased risk for colorectal cancer, hemorrhage, bowel blockages or perforations, and intraabdominal abscesses.1
Differentiating between GI conditions can be difficult and frustrating for both patients and healthcare professionals, as symptoms can be similar and overlapping.2 Symptoms of GI diseases could also indicate the presence of other diseases, as is the case with CD. These patients often have symptoms of iron deficiency anemia, thyroid disease, and infertility.3,4 This is one reason that CD, despite being one of the most common lifelong autoimmune disorders in the world, has surprisingly low correct diagnostic rates.5
Serological, as well as stool testing can sometimes be helpful in differentiating between GI conditions. Along with other diagnostic tools and findings from a physical exam and patient history, results may help clinicians reduce the time to diagnosis and accelerate the time to treatment.6
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Prevalence of gastrointestinal diseases worldwide1,2
IBD affects approximately 0.2% of the population in developed countries.2 Celiac disease potentially affects even more, with an estimated global prevalence of between 0.5–1% of the population.3
Because the symptoms of GI diseases can be similar and overlapping, diagnosing and treating clinicians cannot rely solely on the information gathered during a physical exam and patient history. Laboratory tests can be used to help support the ruling-in or ruling-out of possible GI conditions, confirm the presence of inflammation, and help differentiate diseases. Additionally, they can be used to help identify active and dormant disease and predict relapse.7 Some tests and procedures a clinician may use include:1-5
Serological investigations
Stool investigations
External imaging procedures
Endoscopic procedures
Biopsies
Some clinicians may also choose to use first-line serological or stool-based tests to rule out more serious conditions and/or determine the need for further investigations.6 Ultimately, the cost of conducting these tests are very often outweighed by the consequence of letting patients go undiagnosed. One study, for example, notes that patients with celiac disease in Italy and the US incurred costs of 407.61€ and $8748, respectively, in the 3 years leading up to a diagnosis, whereas the diagnosis itself only incurred an expense of 203.49€ and $2707.7 The true cost of undiagnosed and untreated GI diseases is most notable when you consider what additional risks these patients face, such as GI and other related cancers.7
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Due to the chronic and incurable nature of many GI diseases, the goals of any management plan should be centered around reducing symptom flares and improving or maintaining quality of life. Testing can help clinicians continue to monitor their patients and modify the management plan as needed to achieve these goals.2
World Gastroenterology Organisation. Inflammatory bowel disease guidelines. 2015. http://www.worldgastroenterology.org/UserFiles/file/guidelines/inflammatory-bowel-disease-english-2015-update.pdf. Accessed December 2017.
Burri E, Beglinger C. Faecal calprotectin -- a useful tool in the management of inflammatory bowel disease. Swiss Med Wkly. 2012;142:w13557.
Gujral N, Freeman HJ, Thomson A. Celiac disease: Prevalence, diagnosis, pathogenesis and treatment. World J Gastroenterol. 2012;18(42):6036-6059.
National Institute for Health and Care Excellence. Coeliac Disease – Recognition, assessment and management (NG20). 2015. https://www.nice.org.uk/guidance/ng20/resources/coeliac-disease-recognition-assessment-and-management-pdf-1837325178565. Accessed November 2017.
Picarelli A, Di Tola M, Borghini R, et al. The high medical cost of celiac disease missed diagnosis: is it cheaper to suspect it in time? Intern Med. 2014;4:155
Cappello M, Morreale GC. The Role of Laboratory Tests in Crohn’s Disease. Clinical Medicine Insights Gastroenterology. 2016;9:51-62.
Waugh N, Cummins E, Royle P, et al. Faecal calprotectin testing for differentiating amongst inflammatory and non-inflammatory bowel diseases: systematic review and economic evaluation. Health Technology Assessment. 2013;17.55.