Gastroesophageal Reflux Disease
From Holoprosencephaly
Definition of GERD
Gastroesophageal reflux disease, or GERD, occurs when the lower esophageal sphincter (LES) does not close properly and stomach contents leak back, or reflux, into the esophagus. The LES is a ring of muscle at the bottom of the esophagus that acts like a valve between the esophagus and stomach. The esophagus carries food from the mouth to the stomach.
When refluxed stomach acid touches the lining of the esophagus, it causes a burning sensation in the chest or throat called heartburn. The fluid may even be tasted in the back of the mouth, and this is called acid indigestion. Occasional heartburn is common but does not necessarily mean one has GERD. Heartburn that occurs more than twice a week may be considered GERD, and it can eventually lead to more serious health problems.
Anyone, including infants, children, and pregnant women, can have GERD. The main symptoms are persistent heartburn and acid regurgitation. Some people have GERD without heartburn. Instead, they experience pain in the chest, hoarseness in the morning, or trouble swallowing. GERD can also cause a dry cough and bad breath.
GERD in children
GERD is common and may be overlooked in infants and children. It can cause repeated vomiting, coughing, and other respiratory problems. Most infants have physiologic GER, which is manifested as "spitting up." This is due to the lower tone of the lower esophageal sphincter in infants. Most infants stop spitting up before their first birthday. Children with neurological disorders are at much higher risk of having significant GER that persists past infancy and that is pathologic.
Problems associated with GERD
Health problems due to pathologic GER can be categorized as follows: inadequate nutritional intake leading to poor weight gain and growth, esophagitis (inflammation of the esophagus due to reflux of stomach contents), and pulmonary complications.
Poor nutritional intake can be due to excessive regurgitation or decreased appetite from discomfort/fussiness.
Esophagitis is due to the reflux of gastric acid and digestive enzymes which erodes the lining of the esophagus. Esophagitis initially causes pain or irritability. Esophagitis can lead to later scarring and stricture (narrowing) of the esophagus or can cause bleeding.
Pulmonary complications are due to a number of factors. GER can cause bronchospasm and laryngospasm through a neurally-mediated reflex mechanism. GER can also lead to aspiration of stomach contents into the airway including the trachea, bronchi and alveoli. Chronic micro-aspiration can be a cause of chronic lung disease (coughing, wheezing, increased secretions, decreased capacity). Aspiration of a significant volume at once can cause an acute aspiration pneumonitis (aspiration pneumonia). Aspiration may also be a cause of apnea in some cases. GER, especially while lying down, can contribute to sinus disease, nasal congestion, and ear infections by refluxing into the nasopharynx and causing inflammation. Symptoms of GERD include frequent regurgitation, foul odor to the mouth, excessive salivation, chest pain, fussiness/irritability, poor oral intake, choking, gagging, wheezing, other respiratory symptoms, difficulty swallowing, or bleeding.
Diagnostic Evaluation
A pH probe study can document the presence of GER and can help quantify the severity.
An upper GI contrast study can show an anatomic abnormality contributing to GER, identify strictures, and can demonstrate GER, but does not really distinguish between physiologic and pathologic reflux or aid in grading severity.
An upper GI endoscopy (EGD) can show evidence of GER both grossly and on pathologic specimens and can aid in evaluating severity.
It is important that clinicians try to differentiate between physiologic GER and pathologic GERD and evaluate the significance and severity of GER through history, physical exam and possibly ancillary tests. This evaluation of the significance and severity of GER should guide therapy
Treatment
There are two main categories of medications available to treat GERD, medications which decrease the acidity of stomach contents and medications which improve GI motility (prokinetic agents). Decreasing the acidity of gastric contents will not necessarily decrease the amount of reflux but will likely decrease the severity of complications of GER. Classes of medications that decrease the acidity of gastric contents include antacids (Maalox, Mylanta, Gaviscon, Tums, Riopan, etc), H2 blockers (Zantac, Pepcid, Tagamet), and proton-pump inhibitors (Losec, Prilosec, and Prevacid).
Typically antacids are over-the-counter. They directly neutralize gastric acid. They can immediately relieve symptoms of indigestion and heartburn associated with GERD, and so are most useful in persons who can report symptoms. They have a short duration of action and interact with other medications, so they are not commonly used for the chronic treatment of GERD.
H2 blockers antagonize the action of histamine on gastric cells and decrease the secretion of acid and probably digestive enzymes. They are safe medications, can be given just twice per day, and are the mainstay of medical treatment for GERD. Ranitidine (Zantac) and famotidine (Pepcid) generally have been preferred over cimetidine (Tagamet) because they do not affect the metabolism of other drugs as much.
Proton-pump inhibitors block the cellular membrane pump which moves acid from cells to the stomach lumen. Losec (Canada) and Prilosec (USA) are the brand-names of the same medication, omeprazole, which is the most commonly used proton-pump inhibitor in children. Omeprazole more completely blocks acid secretion than the H2 blockers, but is usually reserved for cases with severe esophagitis and is not used as routinely for long-term therapy. Lansoprazole (Prevacid) is a newer proton-pump inhibitor which has not been used as extensively, is only available as enteric-coated tablets, and is mainly used in adults for the short-term treatment of ulcers or erosive esophagitis.
Prokinetic agents can help decrease GER by increasing LES tone, improving gastric emptying and promoting esophageal and intestinal motility. Prokinetic agents include cisapride (Propulsid), metoclopramide (Reglan), bethanecol, and erythromycin (mainly thought of as an antibiotic but also sometimes has a positive effect on GI motility at low doses). Cisapride is probably the most effective but has recently had bad press due to several deaths from arrhythmias. An arrythmia is more likely when used in combination with certain other medications. Use of cisapride should be avoided with carbamazepine (Tegretol), erythromycin and clarithromycin (Biaxin). Metoclopramide is an alternative to cisapride without the drug interactions, but has more systemic side effects including sedation and dystonia (can make movement problems worse). Erythromycin is increasingly being used for its prokinetic effects.
Besides medications, there are some other things that can help. Giving smaller, more frequent feedings will decrease gastric distension and may decrease GER. Continous tube feedings are an option. Elevation of the head of the bed while sleeping can help, by way of gravity. For severe persistent GERD, there are several surgical options including Nissen fundoplication or gastrojejunostomy.
Surgery
Surgery is an option when medicine and lifestyle changes do not work. Surgery may also be a reasonable alternative to a lifetime of drugs and discomfort.
Fundoplication, usually a specific variation called Nissen fundoplication, is the standard surgical treatment for GERD. The upper part of the stomach is wrapped around the LES to strengthen the sphincter and prevent acid reflux and to repair a hiatal hernia.
This fundoplication procedure may be done using a laparoscope and requires only tiny incisions in the abdomen. To perform the fundoplication, surgeons use small instruments that hold a tiny camera. Laparoscopic fundoplication has been used safely and effectively in people of all ages, even babies. When performed by experienced surgeons, the procedure is reported to be as good as standard fundoplication. Furthermore, people can leave the hospital in 1 to 3 days and return to work in 2 to 3 weeks.
GERD is a common problem in children with neurologic disorders and treatment is not specific for children with HPE. If you suspect that your child has GERD, you should see your pediatrician or a pediatric gastroenterologist. Treatment for GERD should be escalated in a step-wise fashion. Not all GER has to be treated. Treatment should be based on symptoms, severity, and risk of aspiration. Over-the-counter antacids generally are not very effective.
Source: The Carter Center: http://www.stanford.edu/group/hpe/support/FAQ.html#Q5 http://digestive.niddk.nih.gov/ddiseases/pubs/gerd/
For information about dealing with other potential health problems, treatments and medications, please visit our Miscellaneous Health Information category.
Click here to read what specialists have to say about caring for children with Holoprosencephaly: Doctor Q&A
If you have any concerns, please don't hesitate to discuss your concerns with your child's doctor(s).
