Esophageal Diseases Program
The Esophageal Diseases Program is dedicated to the care of patients with esophageal disorders and responsible for the development of a new highly effective means of treating patients with achalasia.
We provide comprehensive care from a multidisciplinary approach for patients with esophageal disorders using the latest diagnostic and therapeutic techniques and technology. The Esophageal Diseases Program is composed of clinical experts in the field of esophageal motility including John T. Boyle, MD, FAAAP, and Kristin Fiorino, MD. In addition, a group of specialized GI motility nurses provide support during diagnostic procedures. The program is equipped with the latest diagnostic and therapeutic methods to provide accurate and confirmatory diagnoses for esophageal conditions such as achalasia, EGJ outlet obstruction, and scleroderma.
Esophageal motor disorders, achalasia, and scleroderma
Achalasia is a condition that leads to progressive degeneration of ganglion cells in the esophageal wall. As a result, the lower esophageal sphincter cannot relax, and lack of normal peristalsis leads to esophageal stasis of food products and secretions. Patients present initially with dysphagia to solids, which then progresses to liquids as well. An upper GI series can suggest achalasia, but official diagnosis is made by esophageal manometry. Subsequent confirmatory endoscopy and esophageal morphology and function testing with novel impedance planimetry technology (EndoFLIP) is performed.
At this time, there is no effective medical therapy for achalasia. As a result, current treatments focus on procedural intervention such as upper endoscopy with either botulinum toxin injection or pneumatic balloon dilation. In some cases, surgical myotomy is necessary. The Esophageal Diseases Program is one of the few pediatric programs in the country to provide esophageal dilation with the use of EsoFLIP, a novel dilatation method without the need for fluoroscopy (radiation). EndoFLIP technology also allows for post-dilation assessment in order to measure the degree of dilation and likely to predict dilation outcomes.
Scleroderma is an autoimmune disorder that results in abnormal growth of connective tissues. Limited scleroderma, also known as CREST, commonly causes problems with the esophagus. Poor functioning of the muscles in the upper and lower esophagus can make swallowing difficult and allow for gastroesophageal reflux, leading to heartburn, inflammation and scarring of esophageal tissues. At CHOP, we offer esophageal manometry, a helpful diagnostic modality to evaluate smooth muscle in patients with scleroderma who have dysphagia.
Congenital esophageal disorders, tracheoesophageal fistula and esophageal atresia
EA and TEF
Esophageal atresia (EA) and tracheoesophageal fistula (TEF) are conditions that develop before the baby is born and usually occur together. In esophageal atresia the esophagus develops in two parts, one connected to the mouth and the other to the stomach creating a blind pouch on both ends. Food is unable to pass from the mouth to the stomach. Usually children with EA develop a connection between the trachea and the esophagus called a fistula, or tracheoesophageal fistula (TEF). Surgical intervention is required soon after birth; however, children can present with long-term esophageal dysmotility. Currently, patients presenting with a history of EA or TEF and esophageal symptoms undergo a series of diagnostic test to determine if any narrowings have developed post-surgical intervention. At CHOP, we use impedance planimetry technology (EndoFLIP) to visualize the degree of narrowing and guide the required dilations.
Esophageal strictures are narrowing that develop in the esophagus. Strictures can happen due to gastroesophageal reflux, eosinophilic esophagitis, or a caustic injury or trauma. Strictures that develop before birth are called congenital esophageal strictures. Children can present with difficulty swallowing, pain with swallowing with subsequent food refusal, and weight loss. Relieving the narrowing strictures requires a dilation or stretching of the stricture. At CHOP we offer endoscopic ultrasound in order to evaluate for the presence of cartilage prior to possible series of dilations which are usually required for therapy. In addition to balloon dilations, we offer steroid injections, needle-knife incision, and stent placement as therapy for refractory or recurrent strictures.
Eosinophilic esophagitis (EoE) is a lifelong disease involving allergic inflammation of the esophagus. This condition is marked by the invasion of white blood cells, termed eosinophils, into the esophagus. Long-standing inflammation causes the esophagus to become scarred or fibrotic. Once scarring occurs, patients are at risk of swallowing difficulty and food becoming stuck in the esophagus, due to poor esophageal motility. However, currently there is no way to monitor esophageal tissue for early signs of fibrosis.
Utilizing a new technology termed the “EndoFLIP,” we can measure the distensibility of the esophagus. Distensibility gives us a measure of the amount of stretch in the esophagus. Specifically, distensibility is defined as the area of the esophagus divided by the pressure, and we believe that it may be a marker of early fibrosis in EoE. To measure this value, a catheter with a balloon on the end is inserted into the esophagus during routine endoscopy. A sensor at the end of the catheter measures the diameter of the esophagus as well as the amount of pressure in the balloon as it is inflated.
The EndoFLIP is an exciting and innovative tool that measures the distensibility of the esophagus. We hope that the EndoFLIP will detect patients at risk for fibrosis in its early stages of development prior to the onset of dysmotility. We hope that with early detection we can eliminate the severe complications of this disease.
The Dysphagia Program provides a multidisciplinary approach to patients with difficulty swallowing (dysphagia). Specialists will include surgery, otolaryngology, GI, nutrition, social work, psychology. We partner with esophageal specialists at Penn and aim to improve patient outcome with multidisciplinary approach, esophageal manometry with pH impedance, UES dysfunction for patients with cricopharyngeal achalasia.
Rumination syndrome is a functional gastrointestinal disorder characterized by effortless regurgitation after eating. While regurgitation itself can be considered benign, rumination syndrome and its associated symptoms and complications (e.g., pain, nausea, weight loss, anxiety, social isolation) can be distressing and disabling for affected patients and their families. While rumination is a relatively rare functional GI condition, the Division of Gastroenterology, Hepatology and Nutrition sees a number of patients with this potentially debilitating condition every year. In fact, over a recent five-year period (2013-2018), more than 105 patients treated in CHOP GI have been diagnosed with rumination syndrome.
Current guidelines indicate that most patients benefit from education and targeted behavioral treatment of rumination. Many patients even experience symptom resolution following outpatient behavioral treatment. At CHOP, behavioral treatment of rumination is provided by our licensed clinical psychologists. However, this non-invasive and relatively brief treatment is not reaching all patient families: Only 40% of patients diagnosed with rumination in the Division of Gastroenterology, Hepatology and Nutrition between 2013 and 2018 were treated by one of the division’s licensed clinical psychologists.
Pediatric psychologists in the Suzi and Scott Lustgarten Center for GI Motility aim to improve patient access to behavioral treatment of rumination. At present, pediatric psychologists provide direct outpatient care and case consultation to colleagues both within and outside of CHOP. Our pediatric psychologists continue to educate the nursing staff about behavioral treatment of rumination at the Suzi and Scott Lustgarten Center for GI Motility’s Nursing Education Day. Next steps for this program include developing a standardized referral pathway, patient education materials, and procedures to track patient outcomes following behavioral treatment.
Gastroesophageal reflux is the return of acidic stomach juices, or food and fluids, back up into the esophagus. Gastroesophageal reflux is common in babies, although it can occur at any age. It may be a temporary condition, or may become a long-term physical problem, often called gastroesophageal reflux disease (GERD). Gastroesophageal reflux is often the result of conditions that affect the lower esophageal sphincter (LES). The LES, a muscle located at the bottom of the esophagus, opens to let food into the stomach and closes to keep food in the stomach. When this muscle relaxes too often or for too long, acid refluxes back into the esophagus, causing nausea, vomiting or heartburn. Many babies with GER will "outgrow it" by the time they are about a year old, as the lower esophageal sphincter becomes stronger. For others, medications, lifestyle and dietary changes can minimize reflux, vomiting and heartburn. Surgery to reinforce the lower esophageal sphincter and mechanically discourage reflux may be required in severe cases.