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Fig. 27.2 Rectum biopsy. This histologic section from the rectum, taken 9 months after initial
presentation, shows basal plasmacytosis (arrows). Enlarged at 20× [2].
A. K. Shetty
Treatment for IBD was initiated with azathioprine and iniximab with healing of
his stula and continued clinical improvement. Therapy was well tolerated. For the
past 1.5 years, he has been doing well on the same therapy with no further GI or
extraintestinal manifestations of IBD [2].
Differential Diagnosis
1. Inammatory bowel disease—Intestinal manifestation seen with this patient
being the hematochezia as seen at 8 weeks post-initial GPA diagnosis. Although
the patient denied a rash, the patient was seen to have anterior uveitis, auricular
chondritis, monoarthritis, fever, and weight loss.
2. Granulomatosis with polyangiitis—The initial diagnosis made by the medical
team was supported by symptoms such as fever, weight loss, auricular chondritis, anterior uveitis, microscopic hematuria, monoarthritis, and c-ANCA positivity. However, GPA is much more common in white individuals, and uveitis is
also rarely reported in GPA with scleritis being more common. The patient also
did not have proteinuria which would be more common in GPA given its renal
involvement. Irritable bowel syndrome recurrent abdominal pain associated with
defecation and/or change in stool frequency and/or change in form/consistency
of the stools. This diagnosis however is better supported in patients that are
female and are older in age. It also lacks multisystem symptoms that would be
better explained by the diagnosis of GPA or IBD.
27 Misdiagnosis of Inammatory Bowel Disease due to Features Similar…
185
What WasMisdiagnosed inThis Case andWhy?
Inammatory bowel disease was misdiagnosed as granulomatosis with polyangiitis
(GPA) , since the clinical picture of the patient was in line with this diagnosis. This
was due to the fact that the patient, while suffering from multisystem processes, was
not established as a patient suffering from multisystem processes until care was
started with an internist and rheumatologist. Once care was established, it was noted
that this patient’s clinical course was characterized by a myriad of inammatory
features ranging from c-ANCA positivity to auricular chondritis and even unilateral
anterior uveitis. It was at this point that the diagnoses were boiled down to either
inammatory bowel disease or granulomatosis with polyangiitis. As the disease
progressed, it was noted that the GI tract of the patient was the primary inammatory target. IBD was subsequently conrmed following a colonoscopy.
Discussion
As with most diagnoses, in order to accurately and effectively come to a specic
diagnosis, it is imperative that the medical team has followed the necessary steps in
terms of the medical interview and physical examination. For instance, in the scenarios involving gastrointestinal disorders, such as this case, the medical interview
becomes extremely essential especially when it comes to the timeline of symptoms
appearing. In a study involving 1249 patients, there were a total of 366 patients that
experienced extraintestinal manifestations; approximately one quarter of patients
with inammatory bowel disease had these manifestations appear before the time of
diagnosis [1]. It is due to this fact that the past medical history of patients suspected
of suffering from gastrointestinal disorders is not taken lightly. The patient in this
case had appeared with a variety of symptoms that did not immediately raise the
ag of inammatory bowel disease. As described by the medical team, being a
patient that did not have health care, his complaints were treated as individual,
piecemeal, visits. Once he had been under the care of an internist and rheumatologist, his multisystem symptoms were considered as a whole to another diagnosis. At
this point the medical team was between two diagnoses for this patient, being granulomatosis with polyangiitis and inammatory bowel disease. This was due to the
symptoms of c-ANCA positivity, auricular chondritis, fever, weight loss, microscopic hematuria, monoarthritis, and unilateral anterior uveitis. The initial misdiagnosis of granulomatosis with polyangiitis was chosen at rst due to the clinical
picture and c-ANCA positivity. Along with the negative enzyme-linked immunosorbent assay (ELISA), that would test for any antibody/antigen binding. With an
approximated 80–90% of patients with granulomatosis with polyangiitis displaying
ANCA positivity, this diagnosis was well supported [3]. This diagnosis was also
scrutinized due to atypical features that did not immediately match with the purported clinical picture. The patient was suffering from anterior uveitis which does
186
A. K. Shetty
not normally occur in these patients when scleritis is more often reported [4]. While
renal manifestations occur in granulomatosis, this is usually in conjunction with
proteinuria. The patient also lacked textbook manifestations of pulmonary issues,
and this was conrmed in the medical interview [5]. After the initial treatment for
granulomatosis, with prednisone, 8 weeks had passed before the patient also started
to develop abdominal manifestations in the form of hematochezia, left lower quadrant pain, and a perirectal abscess and stula. Under the care of the internist and
rheumatologist, a colonoscopy was suggested, and histological specimens suggested inammatory bowel disease. As reported earlier, while extraintestinal manifestations can occur before the diagnosis of inammatory bowel disease is made, it
is not the majority of cases. This particular case is also unusual due to the presence
of c-ANCA. ANCA positivity is not unusual in the case of inammatory bowel
disease, but p-ANCA is more common than c-ANCA in this scenario [6]. With the
suspicion of granulomatosis at rst and subsequently inammatory bowel disease,
it is not entirely impossible that this patient may be suffering from both. Vasculitis
and inammatory bowel disease have been reported in patients at the same time
before, where they occurred at the same time as well as one preceding the other [7].
When it comes to inammatory bowel disease, the medical team should be prepared
to see patients that may not present with the symptoms in a specic order. This
should be evident through the case reported here, and due to this, clinicians should
not rule out not to consider a diagnosis of inammatory bowel disease even if the
intestinal manifestations have not yet been seen. Investigative measures such as a
colonoscopy and histological study can and should be implemented upon suspicion
to rule in or out the diagnosis.
Plan ofAction
1. As a basic rule of care, the presenting patient is entitled to a visit that entails a
carefully sought out medical history.
2. The patient should be viewed holistically in terms of their previous medical his-
tory. All past medical history should be viewed as potential symptoms towards a
possible reasoning to an alternate diagnosis.
3. Physicians should be trained and upgraded in order to have sufcient up to date
knowledge of multisystem affecting disorders.
4. It is an important responsibility of the physician to seek meaningful and bene-
cial consults with physicians in other disciplines in order to accurately diagnose
disorders.
5. In the event an investigation reveals information that may disprove an existing
diagnosis, the medical team should not discredit the original diagnosis until the
results prove without a doubt that it should be removed.
27 Misdiagnosis of Inammatory Bowel Disease due to Features Similar…
187
Conclusion
While this patient suffers from an unusual presentation of IBD: c-ANA positive,
with prominent extraintestinal manifestations preceding GI complaints, failure to
establish this unusual presentation may delay diagnosis [2].
References
1. Vavricka SR, Rogler G, Gantenbein C, Spoerri M, Prinz Vavricka M, Navarini AA, French
LE, Safroneeva E, Fournier N, Straumann A, Froehlich F, Fried M, Michetti P, Seibold F,
Lakatos PL, Peyrin-Biroulet L, Schoepfer AM.Chronological order of appearance of extrain-
testinal manifestations relative to the time of IBD diagnosis in the Swiss inammatory
bowel disease cohort. Inamm Bowel Dis. 2015;21(8):1794–800. https://doi.org/10.1097/
MIB.0000000000000429.
2. Shapiro SC, Khararjian A, Manno RL. Inammatory bowel disease mimicking granuloma-
tosis with polyangiitis: a case report. J Med Case Rep. 2016;10:214. https://doi.org/10.1186/
s13256- 016- 1000- x.
3. Seo P, Stone JH.The antineutrophil cytoplasmic antibody-associated vasculitides. Am J Med.
2004;117(1):39–50. https://doi.org/10.1016/j.amjmed.2004.02.030.
4. Kubal AA, Perez VL.Ocular manifestations of ANCA-associated vasculitis. Rheum Dis Clin
N Am. 2010;36(3):573–86. https://doi.org/10.1016/j.rdc.2010.05.005.
5. Hoffman GS, Kerr GS, Leavitt RY, Hallahan CW, Lebovics RS, Travis WD, Rottem M, Fauci
AS.Wegener granulomatosis: an analysis of 158 patients. Ann Intern Med. 1992;116(6):488–98.
https://doi.org/10.7326/0003- 4819- 116- 6- 488.
6. Peeters M, Joossens S, Vermeire S, Vlietinck R, Bossuyt X, Rutgeerts P. Diagnostic value
of anti-Saccharomyces cerevisiae and antineutrophil cytoplasmic autoantibodies in inamma-
tory bowel disease. Am J Gastroenterol. 2001;96(3):730–4. https://doi.org/10.1111/j.1572- 02
41.2001.03613.x.
7. Humbert S, Guilpain P, Puéchal X, Terrier B, Rivière S, Mahr A, etal. Inammatory bowel
disease in anti-neutrophil cytoplasmic antibody-associated vasculitides: 11 retrospective cases
from the French Vasculitis Study Group. Rheumatology (Oxford). 2015;54:1970–5.
Chapter 28
Small Bowel Carcinoma Misdiagnosed
asIleal Crohn’s Disease
AnthonyV.Baratta Jr.
Learning Objectives
By the end of this presentation, the clinician will be able to:
1. Compare and contrast the variable presentations of Crohn’s disease.
2. Discuss the challenges in diagnosing Crohn’s and small bowel carcinoma.
3. Outline the regions of the gastrointestinal tract most commonly affected by
Crohn’s.
4. Create a differential diagnosis for a possible are of Crohn’s disease.
5. Discuss how to test for malignancy as a potential complication of Crohn’s
disease.
Introduction
Inammatory bowel disease (IBD) involves two primary disorders, Crohn’s disease
(CD) and ulcerative colitis (UC). Crohn’s disease may characteristically involve any
portion of the gastrointestinal tract, from the oropharynx to the anal/perianal region.
The intestinal inammation in Crohn’s is transmural, whereas inammation in UC is
conned to the mucosal layer. Almost 80% of Crohn’s patients have small bowel
involvement, often the distal/terminal ileum, whereas 20% have inammation limited to the large bowel. Roughly half have inammation involving both ileum and
large bowel (ileocolitis) , and one third have inammation only in the distal ileum.
Approximately 10% have involvement of the upper gastrointestinal tract [1–3]. Most
patients with Crohn’s have one or more of the following symptoms: abdominal pain,
diarrhea, weight loss, and fatigue. Rectal bleeding may occur with CD but is more
A. V. Baratta Jr. (*)
Gastroenterology Associates of Rochester, Rochester, NY, USA
e-mail: Anthony.Baratta@RochesterRegional.org
© The Author(s), under exclusive license to Springer Nature Switzerland AG 2023
H. Tohid et al. (eds.), The Misdiagnosis Casebook in Clinical Medicine,
https://doi.org/10.1007/978-3-031-28296-6_28
189
190
A. V. Baratta Jr.
common in UC [2]. Those with disease restricted to the terminal ileum often present
with right lower quadrant pain. Acute presentation of right lower quadrant pain is
uncommon and may be misdiagnosed as appendicitis [4]. Fever may occur due to
transmural inammation, stula complications, or abscess. Roughly one third have
perianal involvement, typically stulas [5]. Chronic inammation and brosis may
progress to strictures, resulting in small bowel obstruction (typically of distal/terminal ileum, less often large bowel). Weight loss may be due to partial obstruction and/
or malabsorption [6]. Extra intestinal manifestations occur in roughly 30% of Crohn’s
patients and may include peripheral arthritis, ankylosing spondylitis, sacroiliitis,
uveitis, erythema nodosum, pyoderma gangrenosum, and sclerosing cholangitis [7].
The diagnosis of Crohn’s is based on clinical presentation combined with elevated
blood and/or stool inammatory markers, abnormal imaging (typically computerized tomography (CT) or small bowel series), and abnormal ndings on colonoscopy
and histology [8]. While most CD patients have some response to medical therapy,
roughly half will eventually require surgical intervention [9, 10]. Uncommon yet
life-threatening complications of Crohn’s include carcinoma of large or small bowel,
other malignancies, and severe infection. Colonic adenocarcinoma is associated with
the duration and extent of colonic inammation in both UC and Crohn’s, and the
long-term risk is threefold higher than in the general population. Small bowel carcinoma complicating Crohn’s is much less common than colonic adenocarcinoma, yet
the relative risk is much higher than in the general population [11].
Clinical Case Presentation
A 69-year-old female presented with 1 month of progressively worsening periumbilical pain. Her past history included hysterectomy (for uterine dysplasia), ovarian
cysts, and lactose intolerance. She was a former smoker. Her father had colon cancer at age 68. Her abdominal pain was daily, intermittent, and variable in intensity.
She ranged between 1 and 5 loose non-bloody stools per day. Appetite was reduced,
with weight loss of 17 pounds over 2 months. She appeared in no distress and was
hemodynamically stable and afebrile. The abdomen was nondistended and soft,
with normal bowel sounds, minimal periumbilical tenderness, and no hepatosplenomegaly or palpable mass.
C-reactive protein was mildly elevated at 4.4 (normal less than 3). A complete
blood count and the complete metabolic panel were unremarkable. The patient was
seen at the emergency department for worsening abdominal pain, bloating, and
early satiety. CT of the abdomen/pelvis revealed two areas of wall thickening and
narrowing of the distal ileum along with proximal small bowel dilatation. The ndings were suggestive of Crohn’s.
Given these ndings, along with her family history (Crohn’s in a nephew) and a
prior history for nonspecic ileitis over 15 years prior, she was started on oral prednisone for a presumed diagnosis of Crohn’s ileitis. At discharge she was placed on
a full liquid diet. Subsequent barium small bowel series revealed ndings
28 Small Bowel Carcinoma Misdiagnosed asIleal Crohn’s Disease
“consistent with Crohn’s disease” of the distal ileum. She had a modest response on
prednisone and was referred for possible surgical resection given ongoing weight
loss (up to 25 pounds over 4 months) and persistent albeit improved small bowel
dilatation (from 8cm on prior imaging down to 4.5cm). The surgeon preferred she
rst attempt biologic therapy. Despite induction with adalimumab, she continued to
have progressively worsening obstructive symptoms and ongoing weight loss. She
was hospitalized for bowel obstruction and underwent ileocecectomy with ileostomy. Pathology revealed signet ring cell carcinoma of the terminal ileum, stage
pT3N2, along with Crohn’s enteritis. She received adjuvant FOLFOX but had rapid
recurrence following completion. Despite additional chemotherapy regimens, she
had progressive metastatic disease. She eventually expired roughly 3 years after the
initial steroid treatment for the Crohn’s.
191
Differential Diagnosis
The differential diagnosis for small bowel Crohn’s includes the following:
1. Infectious enteritis—Always needs to be considered in the differential of patients
presenting to the emergency department with abdominal pain and diarrhea, with
or without weight loss. Stool studies for culture, parasites, and C. difcile are
often included in the initial testing and evaluation.
2. Ischemia—May also cause a similar presentation, usually in older individuals,
sometimes accompanied by blood in the stool.
3. Carcinoma—Must always be in the differential of any patients with unexplained
weight loss accompanied by abdominal pain and change in bowel pattern.
4. Intestinal tuberculosis—While rare, may present in similar fashion as in patients
with Crohn’s disease, with abdominal pain and diarrhea accompanied by constitutional features. Many of these individuals have risk factors including immunosuppression and/or exposure to affected persons.
5. Small bowel diverticulitis—More often involves jejunum than ileum and may
occur in scleroderma or other conditions causing intestinal neuropathy/myopathy.
6. Nonsteroidal anti-inammatory (NSAID) enteropathy—Is often overlooked and
may present as subclinical iron deciency anemia, occult or overt intestinal
blood loss, abdominal pain with or without partial intestinal obstruction, malabsorption, and/or hypoalbuminemia.
What WasMisdiagnosed inThis Case andWhy?
This patient had a delayed diagnosis of signet ring cell carcinoma of the terminal
ileum. She was initially misdiagnosed as having Crohn’s of the distal ileum, based
on clinical presentation combined with CT and small bowel imaging studies.
192
A. V. Baratta Jr.
Discussion
Crohn’s disease is characterized by chronic transmural inammation involving
small or large intestines, or both. The prevalence of IBD has been increasing over
several decades, with Crohn’s now occurring in 250/100,000 individuals in the
United States [12, 13]. Chronic inammatory Crohn’s may have a delayed diagnosis
in individuals initially thought to have irritable bowel syndrome, lactose intolerance, celiac disease, and intestinal enterocolitis [14]. Fibrotic Crohn’s involving the
terminal ileum may present with abdominal pain and partial or complete bowel
obstruction. Our patient presented with recurrent and progressive small bowel
obstruction despite treatment with corticosteroids and subsequent biologic therapy.
She had progressive weight loss and ultimately was diagnosed with signet ring cell
adenocarcinoma of the terminal ileum. Her presentation and imaging studies were
consistent with Crohn’s ileitis, and colonoscopy conrmation was not attempted
given presumed difculty with a bowel prep (given chronic small bowel dilatation
from obstruction). In retrospect, colonoscopy visualization and biopsy may have
allowed for earlier diagnosis of the ileal carcinoma. She did not improve as anticipated on prednisone, and this should have prompted earlier endoscopic investigation. Signet ring cell carcinoma is a highly malignant, rare adenocarcinoma usually
involving the stomach, uncommon in the ileum. This type of carcinoma is poorly
differentiated and carries a poor prognosis. Long-standing small bowel inammation from Crohn’s may be a risk factor [15, 16].
Plan ofAction
In patients with a are of inammatory bowel disease and suboptimal response to
medical management, it is always important to consider other possibilities. In addition to excluding C. difcile, the rare possibility of coexistent carcinoma must also
be considered.
Conclusion
The increased risk for colorectal cancer in the setting of chronic inammation from
Crohn’s and ulcerative colitis is well recognized in the medical community. Small
bowel adenocarcinoma is much less common but may develop in 1.5% of patients
with long-standing Crohn’s. It is rarely diagnosed preoperatively given similar clinical and imaging presentation as in those with active Crohn’s ileitis. The possibility
of small bowel carcinoma always needs to be considered especially in those with
excessive weight loss and suboptimal steroid responsiveness. Direct and thorough
colonoscopic imaging of the ileum may allow an earlier diagnosis.
28 Small Bowel Carcinoma Misdiagnosed asIleal Crohn’s Disease
193
References
1. Satsangi J, Silverberg MS, Vermeire S, Colombel JF.The Montreal classication of inammatory bowel disease: controversies, consensus, and implications. Gut. 2006;55:749.
2. Ha F, Khalil H.Crohn’s disease: a clinical update. Ther Adv Gastroenterol. 2015;8(6):352–9.
3. Sands BE.From symptom to diagnosis: clinical distinctions among various forms of intestinal
inammation. Gastroenterology. 2004;126:1518.
4. Shaoul R, Rimar Y, Toubi A, Mogilner J, Polak R, Jaffe M. Crohn’s disease and recurrent
appendicitis: a case report. World J Gastroenterol. 2005;11(43):6891–3.
5. Schwartz DA, Loftus EV Jr, Tremaine WJ, etal. The natural history of stulizing Crohn’s
disease in Olmsted County, Minnesota. Gastroenterology. 2002;122:875.
6. Farmer RG, Whelan G, Fazio VW.Long-term follow-up of patients with Crohn’s disease.
Relationship between the clinical pattern and prognosis. Gastroenterology. 1985;1818:88.
7. Peyrin-Biroulet L, Loftus EV Jr, Colombel JF, Sandborn WJ. Long-term complications,
extraintestinal manifestations, and mortality in adult Crohn’s disease in population-based
cohorts. Inamm Bowel Dis. 2011;17:471.
8. Baumgart DC, Sandborn WJ.Crohn’s disease. Lancet. 2012;380(9853):1590–605.
9. Thia KT, Sandborn WJ, Harmsen WS, et al. Risk factors associated with progression to
intestinal complications of Crohn’s disease in a population-based cohort. Gastroenterology.
2010;139:1147.
10. Frolkis AD, Dykeman J, Negrón ME, etal. Risk of surgery for inammatory bowel diseases
has decreased over time: a systematic review and meta-analysis of population-based studies.
Gastroenterology. 2013;145:996.
11. Kronberger IE, Graziadei IW, Vogel W.Small bowel adenocarcinoma in Crohn’s disease: a
case report and review of literature. World J Gastroenterol. 2006;12(8):1317–20.
12. Shivashankar R, Tremaine WJ, Harmsen WS, Loftus EV Jr. Incidence and prevalence of
Crohn’s disease and ulcerative colitis in Olmsted County, Minnesota From 1970 through 2010.
Clin Gastroenterol Hepatol. 2017;15:857.
13. Molodecky NA, Soon IS, Rabi DM, etal. Increasing incidence and prevalence of the inammatory bowel diseases with time, based on systematic review. Gastroenterology. 2012;142:46.
14. Burgmann T, Clara I, Graff L, et al. The Manitoba inammatory bowel disease cohort
study: prolonged symptoms before diagnosis—how much is irritable bowel syndrome? Clin
Gastroenterol Hepatol. 2006;4:614.
15. Hammami MB, Aboushaar R, Musmar A, Azhar M.Ileal signet ring cell carcinoma masked by
Crohn disease. Ochsner J. 2020;20(3):323–5. Fall
16. Carvalho JR, Tavares J, Goulart I, Moura Dos Santos P, Vitorino E, Ferreira C, Serejo F, Velosa
J.Signet ring cell carcinoma, ileal Crohn disease or both? A case of diagnostic challenge. GE
Port J Gastroenterol. 2018;25(1):47–51.
Chapter 29
Foreign Body Ingestion Misdiagnosed
asIrritable Bowel Syndrome
AkshayK.Shetty andDannaSoria
Learning Objectives
By the end of this presentation, the clinician will be able to:
1. Analyze the differences of investigative methods in determining patients’ possibility of the presence of irritable bowel syndrome and foreign body ingestion.
2. Analyze the consequences of a misdiagnosis or delay in establishing a foreign
body ingestion patient.
3. Establish meaningful differential diagnosis in patients presenting with irritable
bowel syndrome and foreign body ingestion.
4. Recognize that a patient presenting with a complete medical history and physical
examination could be suffering from a foreign body ingestion and not irritable
bowel syndrome.
Introduction
Foreign body ingestion can occur at any time, be it intentional or unintentional, and
can prove to be an unexpectedly hard issue to diagnose. Because of the likelihood
that most foreign bodies of all types will not cause complications, it is advisable to
treat them expectantly [1]. Given the elusiveness of foreign body ingestion, it is
particularly difcult to keep it as a diagnosis if the patient at hand is unaware of
A. K. Shetty (*) D. Soria
St. Martinus University Faculty of Medicine, Willemstad, Curacao
e-mail: akshay.shetty@martinus.edu; danna.soria@martinus.edu
© The Author(s), under exclusive license to Springer Nature Switzerland AG 2023
H. Tohid et al. (eds.), The Misdiagnosis Casebook in Clinical Medicine,
https://doi.org/10.1007/978-3-031-28296-6_29
195