Common Referrals to The Digestive Health Institute at Children's Hospital Colorado
Contributions from Edward Hoffenberg, MD; Jason Soden, MD; and Shikha S. Sundaram, MD, MSCI
Children's Hospital Colorado Digestive Health Institute is one of the nation's top five pediatric gastroenterology, hepatology and nutrition programs. As such, the Institute treats children suffering from a wide variety of GI disorders. The multidisciplinary team has acquired nationally-renowned expertise and has made substantial advances in the care of children through several research initiatives. Experts from the Digestive Health Institute have outlined three common diseases that can present with complex issues of care.
1.) Gastroesophageal Reflux Disease (GERD)
Gastroesophageal reflux (GER) refers to the passage of gastric contents into the esophagus. It is a common and often physiologic process that occurs in infants, children and adults. In certain situations, however, individuals may develop significant symptoms as a consequence of GER, resulting in gastroesophageal reflux disease (GERD).
The presence of complications from GER implies the diagnosis of GERD; these complications may include chest or abdominal pain, heartburn, vomiting, poor feeding, dysphagia, gastrointestinal bleeding or poor weight gain. Alternatively, complications of GERD may present with symptoms unrelated to the GI tract, including breathing problems (such as wheezing, apnea, pneumonia, croup or stridor), dental erosions, hoarseness and other complaints.
GER is a common issue
As many as two-thirds of infants may experience multiple episodes of benign reflux per day. Ninety-five percent of refluxing infants will outgrow this problem by 12 months of age. Thus, the clinical evaluation of the infant or child with suspected GER should focus on (1) establishing GER by history and physical exam, (2) surveying for non-reflux causes of symptoms, and (3) evaluating for suspected complications of GERD. There are several diagnostic evaluations available and the clinical selection of the correct diagnostic modality may vary depending on the case scenario.
In 2009, a group of international experts in the field of pediatric gastroenterology, hepatology and nutrition compiled a set of guidelines for clinical practice regarding the evaluation and management of the infant and child with suspected GER. Based on these guidelines, Children's Hospital Colorado's clinical recommendations are as follows, categorized according to the most common presentations of GER in pediatric practice:
- The healthy infant with recurrent vomiting/regurgitation (without any of the symptoms below)
As parents and practicing physicians well know, "spit happens." These infants can often be managed with parental reassurance, and perhaps dietary or postural modification.
- The infant with recurrent vomiting and poor weight gain
These patients can be complex and may require screening laboratory evaluations for poor weight gain, as well as more detailed anatomic assessments by radiology. Initial therapeutic options include dietary/formula modification and a limited trial of acid suppression. Poor response will require referral and consultation.
- The fussy infant with vomiting/regurgitation
This can be a challenging case for primary care providers and GI specialists alike. Current evidence does not support the role of reflux in causing nonspecific infant fussiness. In some situations, a therapeutic trial of a hypoallergenic formula or a limited trial of acid suppression may be reasonable. Continued fussiness may indicate need for an endoscopy to look at the upper GI mucosa and to take biopsies.
- The older child with heartburn or epigastric pain
Once a child can localize esophageal symptoms, one can focus more clearly on typical GERD. This may include a trial of medication and if symptoms persist or return, referral for more evaluations including endoscopy.
Evaluation for GERD in children with neurological impairment
There are several factors that predispose children with neurologic impairment to GERD. Diagnosis is often difficult to confirm in this complex population of patients, and GERD may present with more severe manifestations, including esophagitis with gastrointestinal bleeding or esophageal stricture. Maintaining a high index of suspicion for GERD and/or early involvement of GI specialists may be of benefit in this at-risk population of patients.
The child with reflux associated breathing problems
If symptoms exist, there is evidence to support a trial of medications. If there are not typical GERD symptoms, these patients may benefit from objective evaluations in advance of empiric therapy.
Children's Hospital Colorado Aerodigestive Program
Based on the common association between airway/breathing problems and suspected gastrointestinal disease, especially GERD, providers from the Breathing Institute (Robin Deterding, MD), Otolaryngology (Jeremy Prager, MD), and the Digestive Health Institute (Jason Soden, MD) have created a multidisciplinary clinic to help address the complex issues afflicting patients. The goal of this program is to provide expertise in the approach to disorders that may present with respiratory, airway and/or gastrointestinal symptoms. In this new program, the patient undergoes a thorough multidisciplinary evaluation at a single clinic visit and all needed procedures are coordinated under the same anesthesia session. The team then develops a treatment plan along with the patient's primary care provider.
Learn more about the Aerodigestive Program. To schedule an appointment, call (720) 777-4083 or email AeroProgram@childrenscolorado.org.
2.) Inflammatory Bowel Disease (IBD)
Affecting more than 80,000 American children, Inflammatory Bowel Disease (IBD) is a chronic inflammatory condition affecting the GI tract and includes symptoms such as abdominal pain, diarrhea and bloody stools. The newly established Inflammatory Bowel Diseases Center at Children's Hospital Colorado provides comprehensive family-focused care to more than 300 children and adolescents with these disorders. A multidisciplinary team addresses all issues a child or teenager with IBD might experience with the goal of maximizing outcome.
Referral Clinic
The IBD referral clinic provides IBD-specific expertise as a second opinion for patients with complicated cases including confirmation of the diagnosis of IBD, surgical opinions and care of complex cases. Families may receive follow-up care with one of three Children's physicians at this clinic: Edwin de Zoeten, MD, PhD; Deborah Neigut, MD; or Ed Hoffenberg, MD. This referral clinic includes pediatric-specific medical, surgical, nursing, dietetic and social work expertise, as well as clinical trials, and services from pharmacy, pathology, radiology and the infusion center.
Research Program
The IBD Center boasts a strong research program in pediatric IBD focusing on both basic science and linical/translational research. Dr. de Zoeten leads the basic science endeavor with his investigation on the pathogenesis of IBD, titled "Histone Deacetylase Inhibitors in IBD," funded by the National Institutes of Health.
A senior fellow in pediatric GI, Steve Colson, MD, under the guidance of Drs. de Zoeten, Hoffenberg and Sean Colgan, PhD, seeks to clarify the role of hypoxia in IBD. Dr. Colson plans to present his work in May 2011 at Digestive Disease Week (an international meeting).
At the North American Society for Pediatric Gastroenterology, Hepatology and Nutrition annual meeting in October 2010, Dr. Colson also described, for the first time, a higher than expected frequency of IBD in children with cerebral palsy.
Dr. Hoffenberg, director of the Children's IBD program, conducts clinical trials and registries for IBD. His work makes available to patients the possibility of new and promising emerging therapies before they are available to the general pediatric patient population. Dr. Hoffenberg enrolls his patients in longitudinal studies to better identify predictors of disease outcome, such as the multi-center collaborative project "Risk Stratification and Identification of Immunogenetic and Microbial Markers of Rapid Disease Progression in Children with Crohn's Disease," supported by the Crohn's and Colitis Foundation of America.
Children's Center for Pediatric Inflammatory Bowel Diseases is the first in Colorado to enroll patients in a national quality improvement initiative, Improve Care Now. The specific goals are to (1) compare the effectiveness of alternative treatment strategies for pediatric Crohn's disease patients, and (2) improve the quality of care for children with IBD. Dr. Neigut has spearheaded the project and Dr. Hoffenberg sits on the national research committee. The Agency for Health Care Research and Quality has funded the project in an effort to improve quality and for comparative effectiveness research. For more information visit www.improvecarenow.org
3.) Non-Alcoholic Fatty Liver Disease (NAFLD)
Non-alcoholic fatty liver disease (NAFLD), the most common cause of abnormal liver function tests in the United States, is characterized by abnormal lipid deposition in hepatocytes in the absence of alcohol intake. NAFLD comprises a spectrum of diseases, ranging from simple hepatic steatosis to steatosis in association with inflammation and fibrosis (non-alcoholic steatohepatitis or NASH) to cirrhosis. The prevalence of NAFLD in the general pediatric population is 9.6 percent, increasing to 38 percent in children with obesity.
Pediatric patients are more likely than adults to have fibrosis at the time of diagnosis, with significant progression of fibrosis described in as few as two or three years. Therefore, children with the longest time course of disease may be at greatest risk for disease complications and progression to cirrhosis. The need for liver transplantation in many adults with cryptogenic cirrhosis has been attributed to NAFLD. As increasing numbers of children are affected by NAFLD at younger ages, this need for transplantation in adults will likely increase over time.
Who gets NAFLD?
The majority of children diagnosed with NAFLD are young adolescents, concurrent with the peak of pubertal insulin resistance. Recently, physicians have been diagnosing an alarming number of preschool and school-aged children with NAFLD as well. There is a male preponderance of disease (2:1). Hispanic children have a higher prevalence and severity of NAFLD, as compared to whites, with a relative sparing of disease among African Americans. Associated conditions include insulin resistance, type 2 diabetes, hypertriglyceridemia and metabolic syndrome.
How does NAFLD present?
Most children with NAFLD are asymptomatic, with elevated alanine aminotranferease (ALT) and aspartate aminotransferase (AST) noted incidentally or after screening for obesity-related co-morbidities. Children may complain of right upper quadrant or epigastric pain or fatigue. On exam, central adiposity is nearly universal. Hepatomegaly, with or without splenomegaly, is present in roughly half of affected children, but may be difficult to appreciate due to central adiposity. In addition, acanthosis nigricans, a feature of insulin resistance, is often appreciated in NAFLD patients. Serum aminotransferases are usually mild to moderately elevated (<1.5 times the upper limit of normal), with an ALT: AST ratio of >1). Aminotransferases, however, may remain normal, even with biopsy-proven NAFLD. Bilirubin levels are typically normal, though mild elevations in GGTP and alkaline phosphatase may occur. Up to one-third of patients will have hyperglycemia and/or hypertriglyceridemia.
How do you diagnose NAFLD?
NAFLD is a clinicopathologic condition. The evaluation starts with a thorough history and exam looking for risk factors and clinical stigmata consistent with NAFLD and other liver diseases. It is important to assess medications that may induce hepatic steatosis, including corticosteroids, valproate and synthetic estrogens. Likewise, it is necessary to systematically exclude "other liver diseases," including alpha-1-antitryspin deficiency, viral hepatitis, Wilson's disease, celiac disease and autoimmune diseases. Physicians should seek hepatic and biliary anatomic abnormalities, particularly in those experiencing right upper quadrant pain.
Abdominal ultrasound, because of its ease of performance, non-invasive nature and relative affordability, is the preferred imaging modality. Abdominal ultrasound may help confirm fatty infiltration in the liver, but requires a minimum of 30 percent hepatic fat for detection. In addition, it may be technically difficult to perform in patients with central obesity. Most importantly, ultrasound and all currently available imaging techniques do not allow for differentiation of bland steatosis from NASH, nor do they have the ability to grade severity of inflammation. The distinction between hepatic steatosis and the more aggressive NASH can only be made by liver biopsy. Care givers should consider liver biopsy in patients with a chronic hepatitis (elevated aminotransferases for three to six months) and in those who do not fit the classic phenotype for NAFLD.
How do you treat NAFLD?
Currently, the best and only proven therapy for NAFLD is slow and progressive weight loss through dietary modifications and exercise. Approximately one pound per week is recommended, as more rapid weight loss may exacerbate NAFLD. The optimal diet for treating NAFLD has not been established, though the relationship to insulin resistance suggests that a low glycemic diet may be beneficial. Most patients struggle with these lifestyle modifications, and there exists a great interest in pharmacotherapy for NAFLD. Most treatment trials to date, however, have yielded mixed and short-lived results (these include a wide variety of agents, including insulin sensitizing agents such as Metformin, weight loss agents such as Orlistat, anti-oxidants and anti-hyperlipidemics). There is some evidence that vitamin E therapy may be beneficial. Careful attention to liver centric preventive care is also important. Care givers should counsel patients on avoiding hepatotoxic prescription and recreational drugs, herbs and alcohol. Patients should obtain immunization against preventable diseases such as hepatitis A and B.
Consultations and referrals
The Pediatric Liver Center at Children's Hospital Colorado has a particular interest and focus on NAFLD. For consultations and outpatient clinic referrals for patients who may have NAFLD, including diagnosis, education and treatment, contact Shikha Sundaram, MD, at (720) 777-6669. The Pediatric Liver Center nurses, LoAnn Tran, RN, BSN, and Annette McCoy, RN, BSN, are also available to assist with referrals. Please call (720) 777-2733 to reach them.
Additional information and resources
For more information about the Digestive Health Institute, please call (720) 777-6669.
References
1. Pediatric gastroesophageal reflux clinical practice guidelines: joint recommendations of the North American Society for Pediatric Gastroenterology, Hepatology, and Nutrition (NASPGHAN) and the European Society for Pediatric Gastroenterology, Hepatology, and Nutrition (ESPGHAN). J Pediatr Gastroenterol Nutr. 2009 Oct;49(4):498-547.
