An abridged presentation by Carol Potter, M.D., given at the 21st International Conference in Costa Mesa, CA on June 22, 2001
Gastroesophageal (GE) Reflux has been a frequently discussed topic among those who care for people with CdLS and it is estimated that 85% of people with CdLS experience some type of reflux. Dr. Carol Potter, a pediatric gastroenterologist and recent addition to the Scientific Advisory Council (SAC), offers some strategies for helping individuals with CdLS to overcome problems associated with reflux.
"This is a pretty aggressive approach to taking care of reflux . . . I think it has to not hurt to eat before you can get kids to eat and a lot of kids with CdLS have trouble with pain from reflux. Kids must be comfortable with eating so they can get to other feeding issues."
Vomiting is a difficult problem because it requires answering numerous questions. The first issue involved with chronic vomiting is whether or not an anatomical reason exists for its occurrence. A doctor should consider and test for blockage in the gastrointestinal (GI) tract, pancreatic abnormalities, kidney problems or possibly a disease-related cause. A physician may test for these conditions with an upper GI test (barium), a Cat Scan (CT), or an ultrasound.
Likewise, allergies could also be at the root of the vomiting. Testing for an allergic source may be difficult since skin tests and blood tests are seldom helpful. A biopsy may be the most valuable procedure if an allergy is suspected. A biopsy could also prove helpful if the vomiting is thought to be infection-related. Any number of infections (sinus, ear, H-Pylori, etc.) could contribute to vomiting. After ruling out anatomy, allergy, or infection, a biopsy should also indicate whether reflux is present. Reflux is the most likely offender.
Complications due to reflux can range from subtle to obvious. Pain can be the hardest to prove, particularly if a person has a high pain threshold, as some individuals with CdLS are known to have. However, this pain can make eating an unpleasant experience and encourage all kinds of frustrating behavior. If it hurts too much to swallow or a person vomits more than they can intake, reflux can also result in the failure to gain weight.
Acid from reflux may also trigger serious breathing problems or aspiration. Aspiration (inhaling something other than air) is a serious problem for individuals with CdLS and can result in pneumonia. People with feeding problems may aspirate food (through poor swallowing), saliva and other secretions, reflux acid, or a combination of these. "Silent" aspiration (no tell-tale cough or vomiting) of food or secretions may get worse with fundoplication surgery. The extent of aspiration may be determined with swallow or saliva studies or a Chalasia scan.
Chronic reflux can also contribute to a serious condition known as Barrett's Esophagus, the presence of precancerous changes in the esophagus. It is thought to only occur in an inflamed esophagus, but the condition cannot be predicted by symptoms and often requires monitoring with biopsies for accurate detection.
Therapies for reflux include reducing acid (primary treatment option since it reduces pain, improves motility, and reduces vomiting), promoting motility (movement of food through digestive system), protecting the esophagus mucosa (lining), drip-feeding into the stomach, and feeding past the stomach.
Medications
As stated at the beginning of this presentation, this is an aggressive approach to treating reflux. It is important to exhaust all medical therapies before resorting to invasive surgical procedures. All too often, medication is abandoned before it is given sufficient opportunity to work. Many initial dosages are too conservative to be successful because they were created for different populations. Be persistent in getting enough medication to solve the problem.
A) Moderate H2 blockers (Zantac, Tagamet, etc.) reduce acid and are recommended because they are predictable with or without food, are safe, and have endured 25 years of clinical testing. Traditional dosages are often too conservative and subsequently, unsuccessful. This initial failure is often construed as a resistance to the drug when the dosage is simply not sufficient for success. Employ a 24-hour pH probe to test the dosage effectiveness. If the medicine isn't neutralizing the acid at least 80% of the day, the dosage should be increased.
B) Proton pump blockers (Prilosec, Prevasid, etc.) can be used to reduce acid as well. However, they are not as efficient as the moderate H2 blockers since they must be taken in capsule form, 45 minutes prior to eating. While potent, the proton pump blockers were designed primarily for adults and, as a result, vary greatly from child to child. A pH probe can also be used to determine the effectiveness of this medicine.
C) To promote motility (food movement through the GI tract), medications (Reglan, Cisapride, etc.) may also be used. Approximately 10% of Reglan users may suffer the side effect of increased crankiness. Likewise, a few Reglan users experience a neurological side-effect resembling a seizure, but it is not serious. Cisapride is effective at promoting motility although it is hard to find in the US and requires careful monitoring for heart beat effects. These protocols can require many doctor visits, tests, and blood work-ups, but they are worth the trouble if they provide the difference between eating and intravenous (IV) feeding.
D) Medication can also be used protect or soothe the mucosa (lining) of the esophagus and GI tract. Medication (Sucrafate, etc.) may be very effective in protecting the mucosa because it attaches to irritated tissue and soothes inflamation. Since this medication attaches to just about everything, it must be used one hour from meals or other medications in order to be effective.
The safety of these medications is well documented. Zantac has proven safe for 25 years and Prilosec and Prevacid now have good 10-year safety data as well. As a precaution, gastrin (a hormone) levels should be checked in someone who has been on a medication for two years. High gastrin levels can indicate a problem. Reglan is safe and any side effects will occur early in the treatment. Likewise, Cisapride is safe so long as its use is carefully monitored. A significant danger exists in using it with other medications so its use must always be reported to every physician one consults.
Drip Feeding/Tube Options
Small, frequent oral feedings can reduce the production of acid, but they can also frustrate a hungry child, whose upset could then produce acid. Consequently, drip feedings are often used as an effective method for reducing reflux, although they will not necessarily eliminate the problem. Caregivers can bypass a painful or frustrating eating process by drip feeding directly into the stomach or past the stomach into the jejunum (part of the small intestine). Drip feeding can help ensure that individuals receive the nutrition they require, but it does not solve reflux. If food is digested, acid will be produced.
Drip feedings are facilitated by various tube options. NG or NJ tubes are threaded through one nostril and carry food directly to the stomach or small intestine respectively. Nasal tubes are temporary measures used if oral feeding is not possible or to see if a person will tolerate drip feeding. A G, J, or GJ tube may be inserted once it appears the individual will tolerate being drip fed. These tubes are threaded through the abdomen wall to the stomach, small intestine, or through the stomach to the small intestine respectively. Of these tubes, the G-tube is most common.
A percutaneous (PEG) G-tube is less invasive, requires only a 24-hour hospital stay, and results in few complications. A PEG is easy to remove and converts to a GJ-tube if necessary. While a G-tube will not increase reflux, it will not stop reflux either. The stomach must be located in the proper place to facilitate a G-tube insertion.
If the stomach is unusually located, a surgical G-tube or Stam may be necessary. Like the PEG, a Stam requires only a brief hospital stay, involves few complications and can be converted to a GJ-tube. However, the moving of the stomach for insertion may actually cause or worsen reflux in some people.
A J-tube allows food to be introduced past the stomach, eliminating the possibility of its reflux from the stomach. However, the J-tube drip feed must be gradual since the intestine can handle less food at one time than the stomach. The J-tube does expose risk to volvulus, a serious complication involving the twisting of the intestine around the tube. This condition can be life-threatening if blood supply is cut off.
Tricks of the Trade:
SPEAKING IN TUBES
NG = Nasogastric
NJ = Nasojejunum
G = Gastrostomy
J = Jejunostomy
GJ = Gastrojejunostomy
G-tube insertion/Fundoplication surgery
While this option stops reflux and can be converted to a GJ-tube, this procedure is the most invasive, involves more complications (fundoplication may be too tight or loose), and could result in stomach bloating or dumping.