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Chapter 26
Misdiagnosis ofColorectal Cancer
withEmphysematous Epididymo-Orchitis
asaCamouage
AkshayK.Shetty
Learning Objectives
By the end of this presentation, the clinician will be able to:
1. Establish appropriate differential diagnosis in patients presenting with symptomatology suspect for colorectal cancer by investigating all relevant details of
the patient’s medical history along with physical examination of the patient.
2. Analyze the differences of investigative methods in determining patient possibility of presence of colorectal cancer.
3. Discuss the consequences of a misdiagnosis or delay in establishing colorectal
cancer for individual patient prognosis.
4. Explain the difculty of accurately diagnosing colorectal cancer.
5. Enumerate the features of emphysematous epididymo-orchitis.
Introduction
Colorectal cancer, excluding skin cancers, is the third most common cancer diagnosed in the United States [1]. When it comes to colorectal cancer, the symptoms
themselves may not be present in an individual for quite some time. The severity of
tumor growth and the symptoms that come with the growths vary from person to
person giving only a general outline. It is up to the medical team/presiding physician to ensure that the complaints of the patient are met with utmost speculation as
prolonging a diagnosis of colorectal cancer can greatly affect the prognosis of the
patient. Another thing to note is that changes in bowel habits, which can suggest
colorectal cancer, may not be as pronounced as other bowel disorders. In addition to
A. K. Shetty (*)
St. Martinus University Faculty of Medicine, Willemstad, Curacao
e-mail: akshay.shetty@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_26
173
174
A. K. Shetty
this, colorectal cancer has been known for its ability to invade surrounding tissues
as well via the formation of stulas [2].
That ability of colorectal cancer, to form stulas, is the highlight of the following
case report. Due to this ability, the importance of anatomical awareness begins to
rise as supporting structures and organs can be the possible locations for this cancer
to route. Even though there is only one case discussed in this paper, it should be
noted that the variability of colorectal cancer and its aggressiveness can produce a
myriad of other symptoms. This case will highlight the importance of early screening as well as facilitate a discussion as to how colorectal cancer can be a suspicion
among seemingly unrelated symptoms.
Clinical Case Presentation
A 69-year-old male came into the emergency department with acute scrotal pain
found on the right side. At time of admittance, the patient mentioned that there was
no history of trauma, sexual exposure, or any notable medical disease to be documented, with the exception of intermittent diarrhea in recent months. Vital signs
were noted: blood pressure 76/54mmHg, pulse rate of 72 beats per minute, body
temperature of 38°C, and a respiration rate of 19 breaths per minute. When performing the physical examination, it was revealed that the acute scrotal pain was
located on the right-hand side and continued to the ipsilateral inguinal region without perineal involvement. The patient’s labs revealed that hemoglobin level was
12.7g/dL, white blood cell count 12.240/μL, and lastly C-reactive protein (CRP)
was 14.55mg/dL.Imaging showcased, utilizing scrotum sonography, bright spots
and hypoechoic areas, giving the impression of acute epididymo-orchitis with
abscess and gas formation. The patient was sent for right unilateral orchiectomy and
debridement. Culture of the pus obtained revealed the presence of Clostridium spp.
and Bacteroides fragilis. After which the patient was discharged following neces-
sary antibiotics with ceftriaxone and metronidazole at stable wound condition.
Unfortunately the associated scrotal pain was noted with purulent discharge from
the initial surgical wound 1 month later, pathogen proved as mixed organisms
including Klebsiella pneumoniae, Clostridium spp., and Bacillus fragilis.
Examination through digital rectal exam demonstrated an indurated enlarged prostate without palpable rectal mass. With these features the patient was sent for computerized tomography (CT) of the scrotum and pelvis, which revealed heterogeneous
density of the prostate with central low attenuation, rectum thickening of the whole
wall, and lymph node enlargement. With these ndings advanced-stage rectal cancer with prostatic abscess was assumed. Colonoscopy was performed and revealed
a tumor lesion with annular type 5cm above the anal verge, biopsy was performed,
and the analysis conrmed adenocarcinoma of the rectum. Tumor markers showed
carcinoembryonic antigen (CEA) of 9.40 ng/mL and carbohydrate antigen 19-9
(CA19-9) of 21.30U/mL. Further investigation using positron emission tomography (PET) scan revealed no abnormal uorodeoxyglucose (FDG) uptake
26 Misdiagnosis of Colorectal Cancer with Emphysematous Epididymo-Orchitis…
throughout the whole body region and presumed stage of the patients rectum adenocarcinoma was T4N1M0. Infection control was addressed via suprapubic cystostomy for urinary diversion and T-loop colostomy practices. Lastly the patient was
sent for exploratory laparotomy with abdominoperineal resection and radical prostatectomy. Analysis later revealed an adenocarcinoma that was moderately differentiated from the colonic origin with direct invasion into the bilateral prostatic tissue.
It should be noted the nal stage was ypT4bN1bM0. Adjuvant chemotherapy with
oral intake capecitabine was administered up until present time. Lastly, tumor
marker results after performing the resection of the rectal tumor were CEA levels
indicating 1.16ng/mL and a CA19-9 level of 11.36U/mL, further imaging revealed
no evidence of tumor recurrence [2].
175
Differential Diagnosis
1. Colorectal cancer—While the patient arrived and was assessed for scrotal pain
as observed during the medical interviewer, colorectal cancer was the root cause
of the patients complaints. It was not until the patient followed up with additional scrotal pain and a digital rectal exam with features of an enlarged prostate
and induration that a CT was performed. The CT, followed by a colonoscopy, led
the way to a biopsy of a polyp to conrm cancer markers. Notably, the patient
was positive for CEA and CA19-9 which also steer toward a diagnosis of
colorectal cancers. The patient is 69 years old, and most patients suffering from
colorectal cancer tend to be >50 years of age [1].
2. Emphysematous epididymo-orchitis—This is an uncommon diagnosis charac-
terized as an acute inammatory process of epididymis and testis with a presence of air [3]. The patient having come for a checkup due to right-sided acute
scrotal pain steered the medical team toward a diagnosis within the realm of
anterior pelvic region. This was greatly emphasized by the inclusion of the
symptom of pain that extended from the right side of the scrotum ipsilateral to
the inguinal region without perineum involvement. Lastly, the bacterial involvement found from the pus culture led the team to an initial diagnosis of emphysematous epididymo-orchitis.
3. Benign prostatic hyperplasia—The age of the patient, 65-years-old, is a deter-
mining factor in the inclusion of benign prostatic hyperplasia. Digital rectal
examination demonstrated an enlarged prostate with induration.
What WasMisdiagnosed inThis Case andWhy?
Colorectal cancer was misdiagnosed as emphysematous epididymo-orchitis. The
reality of their initial diagnosis is that the features found on the initial medical
examination were caused by an underlying colorectal cancer that was camouaged.
176
A. K. Shetty
The original diagnosis was supported by the presence of acute scrotal pain with
ipsilateral inguinal pain extension that did not involve the perineum. The patient
also denied any history of trauma, sexual exposure, or major medical disease, the
only exception being an admission of intermittent diarrhea. Following initial treatment of emphysematous epididymo-orchitis, it was revealed there was no reduction
in pus formation after treatment with antibiotics. Following such it was revealed via
CT and colonoscopy that the patient showed a tumor that was then biopsied to
reveal markers in accordance with colorectal cancer.
Discussion
There are several things to consider when reaching a diagnosis of colorectal cancer
and the fundamentals should not be dismissed. In order to make this diagnosis, the
patient’s medical history, physical examination, and presentation at time of admittance should be taken into consideration. While colorectal cancer may not always
present the same way on admission, the signs and symptoms should be well-known
among the clinicians present. Symptoms include change in bowel habits, such as
diarrhea, constipation, or narrowing of the stool, that last for more than a few days,
feeling that a bowel movement needs to occur that is not relieved by defecation,
rectal bleeding with bright red blood, blood in the stool which may change the color,
cramping or abdominal pain, weakness and fatigue, and lastly unintended weight
loss [4]. Colorectal cancer may not cause all of the symptoms right away or may be
unnoticed all together by the patient, and thus the burden of responsibility on asking
questions similar to the symptoms is shouldered by the clinicians. In cases similar to
the one presented here, the patient may be experiencing one symptom and think that
the relation is to the reason of their admittance. Another factor to take into consideration when discussing colorectal cancer is the epidemiology and guidelines for
patients that were created based on epidemiological factors. Colorectal cancer is
known to affect patients that are >50 years old and tend to have a familial link to the
cancer. Due to this, the American College of Gastroenterology screening recommendations have suggested that patients be screened for colorectal cancer, starting at age
50, every 10 years via a colonoscopy. In instances where the patient is not eligible or
willing to undergo a colonoscopy, patients should be offered an alternative such as a
exible sigmoidoscopy or a computerized tomography. At the very least, there is a
recommendation for a fecal immunochemical test to be performed [5]. At the time of
admittance the patient in this report was 69 years old with no history of screening,
let alone major medical diseases that were documented by the clinicians. With only
the symptom of intermittent diarrhea, the medical team was focused on the symptoms of scrotal pain as well as ipsilateral inguinal pain that extended from the scrotum but did not include the perineum. The initial impression of acute
epididymo-orchitis with abscess and gas formation was what the team had settled
on. This is characterized as inammation of the epididymis and testicles characterized by the presence of air within the tissue. While ultimately the diagnosis was
26 Misdiagnosis of Colorectal Cancer with Emphysematous Epididymo-Orchitis…
177
colorectal cancer, the presence of emphysematous epididymo-orchitis was a direct
cause of the underlying cancer. With the anatomical location of these structures
being fairly intimate, advanced colorectal cancer invading the urinary tract is not
uncommon [6]. In the graphic provided (Fig.26.1), a digital rectal exam (DRE) is
shown, although a technique to check the quality of the prostate, it can be understood
that this technique is utilized due to the intimacy of the respective organs. In order
for this to occur as a result of the colorectal cancer, there inherently needs to be the
formation of either direct invasion or stula formation. There have been several
cases in which a stula being formed between the colon and the seminal vesicle has
occured [8]. It is through these mechanisms and the presenting symptoms that aided
the clinical team to make the initial diagnosis of emphysematous epididymo- orchitis
for this patient. It was after the primary treatment for this issue that the symptoms
did not subside which ultimately led to the medical team to utilize other means of
investigation. Following an abnormal digital rectal examination and subsequent CT
that the whole wall thickening of the rectum and tumor lesion that was biopsied was
the colorectal diagnosis made. The biopsy revealed the presence of cancer markers
found in the tumor lesion that helped in the diagnosis. The patient was positive for
two markers, carcinoembryonic antigen and carbohydrate antigen. In some studies,
high carcinoembryonic antigen concentrations in patients with stage II and stage III
colorectal cancer were indicative of more aggressive types of cancer [9, 10]. The
Fig. 26.1 Image of a digital rectal examination and the intimacy of the bowels and its surrounding
structures [7].
178
A. K. Shetty
presence of carbohydrate antigen 19-9 should also be of notoriety. It is a glycoprotein whose relevance in colorectal cancer diagnosis remains an issue. There is a
conclusion among various researches that carbohydrate antigen 19-9 is much inferior to that of carcinoembryonic antigen, and elevated carbohydrate antigen 19-9 is
a poor prognostic factor [11–14]. With that in mind, given the advanced nature of
this patient’s colorectal cancer, it’s possible a better prognosis could have been
achieved had the patient followed guidelines for routine screening with the idea that
this diagnosis could have been achieved at an earlier time. As the presenting symptoms were found to be a consequence of the colorectal cancer, an earlier diagnosis
could have potentially avoided this patient’s emphysematous epididymo-orchitis.
Plan ofAction
Appreciate both the typical and atypical presentations of colorectal cancer, as well
as how stula formation allows for a seemingly complex route of transmission to
surrounding tissues, similarly to the case shown here. Consideration of early usage
of computerized tomography could have easily shown early signs of the patients
colorectal cancer as well as tissue thickening. Initial suspicion of the cancer would
have prompted biopsy and tissue sampling at a much earlier time as well with intent
to screen for carcinoembryonic antigen.
Conclusion
Colorectal cancer, excluding skin cancers, is the fourth most common cancer in the
United States overall and represents the 3rd leading cause of cancer-related deaths
in the United States. Although emphysematous epididymo-orchitis is very rare,
especially in conjunction with locally advanced colorectal cancer, root causes
should be accurately investigated. A major issue in investigation has to do with collection time of the samples when taken from the rectum, as seen in discrepancies
associated with 3 and 6min withdrawal times [15]. While cases like the one shown
here may be rare, clinicians should appreciate classical as well as atypical presentations of colorectal cancer.
References
1. American Cancer Society. Key statistics for colorectal cancer. https://www.cancer.org/cancer/
colon- rectal- cancer/about/key- statistics.html
2. Yen CH, Liu CY, Cha TL, etal. Emphysematous epididymo-orchitis as a camouage of prostate
invasion secondary to rectum cancer: a case report. Medicine (Baltimore). 2016;95(30):e4385.
https://doi.org/10.1097/MD.0000000000004385.
26 Misdiagnosis of Colorectal Cancer with Emphysematous Epididymo-Orchitis…
3. Mandava A, Rao RP, Kumar DA, Naga Prasad IS.Imaging in emphysematous epididymoorchitis: a rare cause of acute scrotum. Indian J Radiol Imaging. 2014;24(3):306–9. https://
doi.org/10.4103/0971- 3026.13706.
4. American Cancer Society. Colorectal cancer signs and symptoms. https://www.cancer.org/
cancer/colon- rectal- cancer/detection- diagnosis- staging/signs- and- symptoms.html
5. Rex DK, Johnson DA, Anderson JC, Schoenfeld PS, Burke CA, Inadomi JM, American
College of Gastroenterology. American College of Gastroenterology guidelines for colorectal cancer screening 2009 [corrected]. Am J Gastroenterol. 2009;104(3):739–50. https://doi.
org/10.1038/ajg.2009.104. Erratum in: Am J Gastroenterol. 2009 Jun;104(6):1613
6. McNamara DA, Fitzpatrick JM, O’Connell PR.Urinary tract involvement by colorectal cancer. Dis Colon Rectum. 2003;46(9):1266–76. https://doi.org/10.1007/s10350- 004- 6725- 8.
7. Royal College of Surgeons of Ireland (RCSI). Prostate Exam (Labeled). University of Utah
Health Education Assets Library (HEAL). https://collections.lib.utah.edu/ark:/87278/s6dj8fr1.
8. Carlin J, Nicholson DA, Scott NA. Two cases of seminal vesicle stula. Clin Radiol.
1999;54(5):309–11. https://doi.org/10.1016/s0009- 9260(99)90560- 3.
9. Chen CC, Yang SH, Lin JK, Lin TC, Chen WS, Jiang JK, Wang HS, Chang SC.Is it reasonable
to add preoperative serum level of CEA and CA19-9 to staging for colorectal cancer? J Surg
Res. 2005;124:169–74.
10. Weissenberger C, Von Plehn G, Otto F, Barke A, Momm F, Geissler M.Adjuvant radiochemotherapy of stage II and III rectal adenocarcinoma: role of CEA and CA 19-9. Anticancer Res.
2005;25:1787–93.
11. Labianca R, Nordlinger B, Beretta GD, Brouquet A, Cervantes A. Primary colon cancer:
ESMO Clinical Practice Guidelines for diagnosis, adjuvant treatment and follow-up. Ann
Oncol. 2010;21(Suppl 5):v70–7.
12. Locker GY, Hamilton S, Harris J, Jessup JM, Kemeny N, Macdonald JS, Somereld MR,
Hayes DF, Bast RC.ASCO 2006 update of recommendations for the use of tumor markers in
gastrointestinal cancer. J Clin Oncol. 2006;24:5313–27.
13. Nicolini A, Ferrari P, Duffy MJ, Antonelli A, Rossi G, Metelli MR, Fulceri F, Anselmi L,
Conte M, Berti P, et al. Intensive risk-adjusted follow-up with the CEA, TPA, CA19.9, and
CA72.4 tumor marker panel and abdominal ultrasonography to diagnose operable colorectal
cancer recurrences: effect on survival. Arch Surg. 2010;145:1177–83.
14. Lumachi F, Marino F, Orlando R, Chiara GB, Basso SM.Simultaneous multianalyte immunoassay measurement of ve serum tumor markers in the detection of colorectal cancer.
Anticancer Res. 2012;32:985–8.
15. Kumar S, Thosani N, Ladabaum U, etal. Adenoma miss rates associated with a 3-minute
versus 6-minute colonoscopy withdrawal time: a prospective, randomized trial. Gastrointest
Endosc. 2017;85(6):1273–80. https://doi.org/10.1016/j.gie.2016.11.030.
179
Chapter 27
Misdiagnosis ofInammatory Bowel
Disease duetoFeatures Similar
toGranulomatosis withPolyangiitis
AkshayK.Shetty
Learning Objectives
By the end of this presentation, the clinician will be able to:
1. Analyze the differences of investigative methods in determining patient possibility of presence of inammatory bowel disease.
2. Discuss the consequences of a misdiagnosis or delay in establishing inammatory bowel disease for individual patient prognosis.
3. Review the difculty of accurately diagnosing inammatory bowel disease.
4. Establish appropriate differential diagnosis in patients presenting with symptoms suspect for inammatory bowel disease by investigating all relevant details
acquired from the patient’s medical history along with physical examination of
the patient.
Introduction
Inammatory bowel disease is a seemingly straightforward diagnosis to make with
symptoms that are multisystem in nature as well as directed at the bowel.
Unfortunately due to the multisystem nature of this disease, it is possible that some
symptoms may proceed others. Extraintestinal manifestations of symptoms can be
reported with frequencies ranging from 6 to 47%; the extraintestinal manifestations
are also known to occur at any time during the course of the disease be it before or
after a diagnosis of inammatory bowel disease has been made [1]. The following
case report will illustrate that the course of inammatory bowel disease does not
necessarily take the same course that other patients may experience. Due to the
A. K. Shetty (*)
St. Martinus University Faculty of Medicine, Willemstad, Curacao
e-mail: akshay.shetty@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_27
181
182
A. K. Shetty
possibility of variability in symptoms, be it extraintestinal or intestinal, this proves
to be a challenge for physicians/medical teams when it comes to making a diagnosis. The aim of this paper is to help elucidate this variability, as well as show clinicians a specic instance of inammatory bowel disease that did not follow the usual
projected course.
Clinical Case Presentation
A 54-year-old African-American man presented to our resident clinic at Johns
Hopkins Hospital for discharge follow-up after admission for wrist pain and suspected viral gastroenteritis. He did not have a primary care physician due to lack of
health insurance and had been seen in our emergency department several times over
the past year.
He had been well until 7 months earlier when he developed unilateral pain and
redness of his right eye. An ophthalmologic evaluation in our emergency department revealed anterior uveitis, which was resolved with topical steroids. Five
months later he sought care for right ear pain. Computed tomography (CT) imaging
revealed inammation of his pinna, consistent with auricular chondritis. This
resolved spontaneously without treatment. Two months later, he again returned to
our emergency department with pain and redness of his right wrist. He was diagnosed with cellulitis and empirically treated with oral clindamycin for 7 days with
minimal improvement. Just 3 days later, he was admitted for sudden onset of fever
and diarrhea. A viral etiology was suspected given the quick resolution of his symptoms and management with conservative therapy. He was discharged home within
48h with follow-up in our internal medicine resident clinic. At his outpatient visit a
few days after discharge, he had persistent swelling of his right wrist that limited his
ability to operate motor vehicles at his job as a valet. Further questioning revealed a
27kg (60 pounds) unintentional weight loss over the past 6 months. He denied epistaxis, cough, hemoptysis, chest pain, dyspnea, recurrent ocular symptoms, rash,
low back pain, abdominal pain, frequent stools, melena, or hematochezia. He had
no signicant past medical or surgical history. His family history was unremarkable.
He did not smoke tobacco, drink alcohol, or use illicit drugs. On examination, he
was a well-developed, well-nourished black man who appeared comfortable. He
was alert and fully oriented. His vital signs were within normal limits. He had no
rash, oral ulcers, or cutaneous nodules. There was no lymphadenopathy. Sclerae
were not injected. A comprehensive musculoskeletal examination revealed mild
synovitis of his right wrist without overlying erythema but limited range of motion
due to pain. Cardiac, pulmonary, abdominal, and neurologic examinations were
unremarkable. A laboratory evaluation during admission revealed iron deciency
anemia with hemoglobin of 10.1g/dL and a white blood cell count of 12,100 cells/
mm3 with a normal differential. His albumin was low at 2.9 g/dL, alkaline
27 Misdiagnosis of Inammatory Bowel Disease due to Features Similar…
183
phosphatase was elevated at 182U/L, and there was mild transaminitis. There was
microscopic hematuria: red blood cells (RBC) 55/high-power eld (hpf); he had
normal creatinine and no proteinuria. His inammatory markers were elevated with
C-reactive protein 11.1mg/dL and erythrocyte sedimentation rate 124mm/h. His
fecal lactoferrin was positive. A chest radiograph showed a small ill-dened patchy
inltrate in the upper lobe of his right lung. An infectious workup included the following negative studies: bacterial stool and blood cultures, human immunodeciency virus (HIV) viral load, cytomegalovirus (CMV) serum polymerase chain
reaction (PCR), gonorrhea and chlamydia urine PCR, stool Clostridium difcile
toxin, and stool ova and parasites. Antinuclear antibody, anti-mitochondrial antibody, anti-smooth muscle antibody, rheumatoid factor, and anti-cyclic citrullinated
peptide were negative. His complements were normal. C-ANCA was positive at a
titer of 1:40 with elevated proteinase 3 by enzyme-linked immunosorbent assay
(ELISA; 102.6 units). Perinuclear anti-neutrophil cytoplasmic antibody (p-ANCA)
and myeloperoxidase by ELISA were negative. With infection effectively ruled out,
his clinical picture seemed most consistent with GPA. He was seen in consultation
by rheumatology and started on prednisone 60mg daily with marked improvement
in symptoms and laboratory abnormalities. However, 8 weeks later he developed
hematochezia, left lower quadrant pain, and a perirectal abscess and stula. A colonoscopy was performed and multiple biopsies were taken. Histologic examination
of the biopsy from his descending colon (Fig. 27.1) showed cryptitis and crypt
abscesses. A biopsy from his rectum (Fig.27.2) showed early crypt distortion and
basal plasmacytosis. In the absence of an infectious etiology, these ndings were
suggestive of chronic colitis and/or IBD. There were no granulomas, vasculitis, or
dysplasia.
Fig. 27.1 Descending colon biopsy. This histologic section from the descending colon, taken 9
months after initial presentation, shows a crypt abscess (black arrow) and cryptitis (white arrow).
Enlarged at 20× [2].