Ms. Y, a white woman aged 21 years, presented to the emergency department (ED) with chest pain. The pain began as tightness three days earlier when the patient was walking to class and grew progressively worse, reaching its apex that night.
Ms. Y had no history of trauma, injury, strenuous activity, or ingestion of medication prior to the onset of pain.
The discomfort originated between the patient’s breasts and radiated to her upper chest, left shoulder, and back. The nature of the chest pain changed with Ms. Y’s breathing pattern, becoming very sharp when she inhaled.
Ms. Y could not sleep, was hoarse, and experienced dysphagia and odynophagia, which made it difficult for her to eat or drink. No fever, fatigue, weight change, heart palpitations, headache, coughing, or sputum production was reported. Fruits and vegetables exacerbated her symptoms.
No other GI changes were reported, including diarrhea, abdominal pain, jaundice, or changes in stool caliber. Ms. Y had not taken any medication for relief. She reported no anxiety or suicidal thoughts but suspected recent stress from school might have been the cause of her symptoms.
1. HISTORY AND EXAMINATION
Ms. Y was an active, otherwise healthy college student with no chronic illness. She drank socially but did not use tobacco products or illegal drugs. The patient had been diagnosed with exercise-induced asthma as a child and experienced anaphylactic shock from a dose of penicillin at age 5 years.
Previous surgeries included a tonsillectomy and adenoidectomy at age 12 years and a repair of the flexor hallucis longus tendon at age 17 years. Ms. Y was not sexually active, had never been pregnant, and had taken drospirenone and ethinyl estradiol (Yasmin) for the past three years to regulate menstrual periods.
Family history was positive for hypertension, stroke, hyperlipidemia, bipolar disorder, schizophrenia, and suicide. Family history was negative for cancer, diabetes, tuberculosis, and anemia.
Ms. Y was alert but uncomfortable and mildly dehydrated. BP was 130/70 mm Hg bilaterally, heart rate 90 beats per minute and regular, respiratory rate 23 breaths per minute, temperature 37.5°C, and BMI 19. Her heart had a regular rhythm and rate with no murmurs. Pulse was 2+ and symmetrical. Symmetrical movement of the chest was evident with good breath sounds throughout and no rales, wheezes, or rhonchi. Breath sounds were diminished on inspiration. Abdomen was flat and nontender with active bowel sounds. No organomegaly was present.
2. DIFFERENTIAL AND FOLLOW-UP
The differential for Ms. Y included unspecified esophagitis, gastroesophageal reflux disease (GERD), and general anxiety disorder (GAD). Esophagitis was considered the most likely culprit because of the patient’s severe dysphagia. Ms. Y was given a GI cocktail consisting of simethicone (Maalox); belladonna alkaoids, phenobarbital (Donnatal); and lidocaine (Xylocaine).
The GI cocktail led to extreme pain upon administration, and the patient was admitted to the hospital for what was believed to be erosive esophagitis.
Endoscopy and biopsy were conducted, and an infectious-disease specialist was consulted. The specialist suspected infectious esophagitis, as there were no findings to suggest caustic or pill-induced esophagitis, and the possibility of exposure to infectious pathogens on a college campus was strong.
Endoscopy showed red, raised, and erythematous lesions in the esophagus. These bleeding ulcers were consistent with some type of erosive esophagitis.
Unfortunately, the biopsy results were lost after the patient had been started on empiric treatment with IV pantoprazole (Protonix), antivirals, and antibiotics. Ms. Y recovered and was released after two weeks in the hospital on total parenteral nutrition. Six months later, she presented to her primary-care provider with fever and right-lower-quadrant pain. Appendicitis was initially suspected, and a CT with contrast showed bowel thickening in the terminal ileum.
Follow-up with colonoscopy and biopsy confirmed Crohn’s disease (CD). The patient’s presentation to the ED six months earlier had been a rare primary presentation of CD.
3. NORMAL PRESENTATION OF CROHN’S DISEASE
CD, a type of inflammatory bowel disease (IBD), most frequently presents with a chronic and insidious history of right lower quadrant pain, fever, and diarrhea.1,2 Although the clinical course varies from case to case, most patients experience recurrent episodes of disease interspersed with periods of remission.2 The highest incidence of CD is found in Europe and North America; IBD runs in families, and the lifetime risk that a first-degree relative will be affected is 10%.1 The peak age of onset of CD is between ages 15 and 30 years.1
CD may affect any part of the alimentary canal and can exhibit a skip-lesion pattern; however, nearly half of all patients have inflammation localized to the terminal ileum and cecum.2 Ms. Y’s case was particularly unique, as CD of the esophagus, stomach, and duodenum is rare and virtually unheard of in the absence of small bowel or colonic disease.2 Perianal disease, including abscesses and fistulae, may also be encountered.2 Sinus tracts can penetrate through the bowel and form fistulae.3 The inflammation in CD is typically transmural, which can lead to such complications as perforation, fibrosis, and strictures.2
Lab findings include anemia, leukocytosis attributable to inflammation, hypoalbuminemia attributable to intestinal protein loss, and elevated sedimentation rate or C-reactive protein.3 One-third of IBD patients also have at least one extraintestinal manifestation of the disease (Table 1).1 These manifestations should always be kept in mind when considering rare presentations of CD. The combination of extraintestinal manifestations and the slow and variable onset can make CD difficult to diagnose.
4. CROHN’S DISEASE OF THE ESOPHAGUS
Esophageal Crohn’s disease (ECD) is rare, with an estimated incidence of 0.3% to 2% in the adult population with CD and up to 6.5% in the pediatric population.4 Fewer than 150 cases of ECD have been described in the literature,4 and in many of these cases, the condition was only diagnosed when CD in other areas of the GI tract was already known. Even those patients with only esophageal complaints likely have colonic involvement that is not yet symptomatic.4,5 True isolated ECD has been reported in the literature only sporadically.4,6
Patients with ECD present with weight loss, pyrosis, chest pain, or the more typical symptoms of dysphagia or odynophagia.4 When CD does affect the esophagus, it often produces strictures and fistulas; such superficial lesions as erosive esophagitis are frequent.7 Since endoscopy is not performed on all CD patients, the true incidence of Crohn’s patients with esophageal involvement remains unknown.4
ECD is often a diagnosis of exclusion that is made after other esophageal pathology (reflux, pill, or viral esophagitis; sarcoidosis; TB; and carcinoma) has been ruled out. Because the clinical presentation of progressive dysphagia or odynophagia is shared with other esophageal conditions, practitioners should keep ECD in mind when symptoms of weight loss, pyrosis, or chest pain are present.4
Endoscopy is the surest way to identify ECD correctly.4 The addition of biopsy is useful because it helps exclude neoplasm, Barrett’s epithelium, reflux esophagitis, and infectious causes. Superficial biopsy alone cannot show the transmural characteristics of CD.4 Therefore, a deep biopsy or endoscopic ultrasound is warranted to rule out other esophageal causes of dysphagia and odynophagia. Finally, endoscopy and biopsy help identify such long-term complications of ECD as stricture formation, which remains evident even when the patient is in remission.4
Treatment of ECD is best managed with the use of 5-aminosalicyclic acid preparations, corticosteroids, cyclosporine, azathioprine, and proton pump inhibitors.4,8 Infliximab (Remicade) has also been shown to lead to complete healing in certain refractory cases.8,9 Until Ms. Y was diagnosed with CD six months after presenting to the ED, she only received IV pantoprazole as part of her empiric therapy for erosive esophagitis. After being diagnosed with CD, she was treated with daily esomeprazole (Nexium), budesonide (Entocort), and an initial methylprednisolone drip. Oral prednisone is used to treat flares. Ms. Y is currently doing well and has had no further episodes of esophagitis.
Ms. Y fits the picture of ECD. She falls into the typical age of onset (ECD has a higher prevalence in children and younger adults) and is of European descent. Her dysphagia, odynophagia, and reaction to the GI cocktail also support a final diagnosis of ECD that has produced strictures or fistulae in the esophagus. Because CT was not performed at the initial presentation, whether Ms. Y had ileocecal changes is unknown. Given the fact the patient was experiencing discomfort eating fruits and vegetables, colonic changes were likely present, and no GI symptoms had yet developed.
While infectious esophagitis presents with sudden onset of odynophagia, dysphagia, and chest pain, this usually occurs in immunocompromised patients.3 Ms. Y had no concomitant signs of infection from the most common pathogens: Candida albicans (candidal thrush), herpes simplex (oral ulcers), and cytomegalovirus (retinitis).3
Although lying down can exacerbate the symptoms of GERD, most cases are uncomplicated and not associated with severe pain.3 The pain Ms. Y experienced was constant and did not consistently occur after meals. It is possible for patients with GERD to have noncardiac chest pain and a sore throat, but antacids should ameliorate the discomfort.3
Finally, while GAD can produce apprehension and somatic complaints—including cardiac and GI—symptoms should be present more days than they are absent.3 Although Ms. Y displays the typical age range and sex of a patient with GAD, no personal or family history supports the diagnosis. Moreover, the GI cocktail should not worsen the dysphagia of someone with GAD.
Clinicians must keep a high index of suspicion for CD with any abnormal finding along the length of the GI tract, particularly in adolescent and pediatric patients. Absence of colorectal symptoms delays diagnosis and treatment of CD.
Keep an open mind and consider CD when other more common causes of esophageal or GI distress have been ruled out. Endoscopy with deep biopsy showing transmural inflammation is the most definitive test. A complete family history should be obtained due to the evidence of a genetic link, but don’t overlook patients with a negative family history. Early treatment is important, and clinicians should do everything in their power not to ignore this diagnosis, even in atypical presentations (Table 2).
Ms. Smith is a second-year student in the physician assistant program at Georgia Health Sciences University in Augusta, where Ms. Haddow is an assistant professor and the director of education.
1. Friedman S, Blumberg RS. Inflammatory bowel disease. In: Kasper DL, Braunwald E, Fauci AS, et al., eds. Harrison’s Principles of Internal Medicine. 17th ed. New York, N.Y.: The McGraw-Hill Companies; 2008:1886-1898.
2. Burakoff R, Hande S. Inflammatory bowel disease: medical considerations. In: Greenberger NJ, Blumberg RS, Burakoff R. Current Diagnosis & Treatment: Gastroenterology, Hepatology, & Endoscopy. New York, N.Y.: The McGraw-Hill Companies; 2009:22-33.
3. McQuaid KR. Gastrointestinal disorders. In: McPhee SJ, Papadakis MA, eds. Current Medical Diagnosis & Treatment. 50th ed. New York, N.Y.: McGraw-Hill; 2011:617-622.
4. Feagans J, Victor D, Joshi V. Crohn disease of the esophagus: a review of the literature. South Med J. 2008;101:927-930.
5. Ramaswamy K, Jacobson K, Jevon G, Israel D. Esophageal Crohn disease in children: a clinical spectrum. J Pediatr Gastroenterol Nutr. 2003;36:454-458.
6. Naranjo-Rodríguez A, Solórzano-Peck G, López-Rubio F, et al. Isolated oesophageal involvement of Crohn’s disease. Eur J Gastroenterol Hepatol. 2003;15:1123-1126.
7. Geboes K, Janssens J, Rutgeerts P, Vantrappen G. Crohn’s disease of the esophagus. J Clin Gastroenterol. 1986;8:31-37.
8. Theodoropoulou A, Koutroubakis IE, Kouroumalis EA. Treatment of oesophageal Crohn’s disease with infliximab. Eur J Gastroenterol Hepatol. 2004;16:431-432.
9. Heller T, James SP, Drachenberg C, et al. Treatment of severe esophageal Crohn’s disease with infliximab. Inflamm Bowel Dis. 1999;5:279-282.