Pharma Update

Hirschsprung's Disease: A Digestive Lion in Sheep's Clothing

By Kelli M. Donley

Understanding the basics of rare gastrointestinal diseases can only improve the overall skills of an endoscopy team member. Sometimes, this information can be a matter of life or death. Hirschsprung's disease (HD) is just such an example. The disease impacts the large intestine and can kill a child if unrecognized. The condition reportedly occurs in one of every 5,000 live births.¹

Cause, Case Definition
Children with HD are born without ganglion cells in their intestine. These nerve cells are responsible for moving stool through the intestine to the anus. Without them, the intestines can quickly fill, causing infection, bursting of the colon and death.

Infants who have the illness may have a variety of symptoms. Usually, a baby with HD does not have an initial bowel movement when expected. Also, vomiting bile after eating is very common in HD infants. While constipation and related discomfort are frequent, some HD children also suffer from diarrhea and anemia. Children with this disease often develop more slowly than normal.

Diagnosis, Treatment
Endoscopy team members can use a variety of diagnostic tools to determine if a child is suffering from HD. Barium enema X-rays and manometry are the most common. However, if these prove inconclusive, a physician may take an intestinal biopsy via colonoscopy to examine for ganglion cells.

Treatment options include pull-through surgery, including the Swenson, Soave and Duhamel procedures. Sections of the intestine missing ganglion cells are removed; the next healthy section is "pulled through" and attached to the anus. Afterward, the intestine should function normally and the child should no longer suffer from HD symptoms. This treatment option is most common in children who are diagnosed early on with HD. For those who have had the disease longer, a colostomy or ileostomy may be necessary. A pull-through procedure is completed at a later date. The stoma required for the colostomy or ileostomy may be maintained for at least six weeks afterward to prevent reopening the wound if the pull-through is unsuccessful.

Initially, children react well to these treatment options because their painful gas can be more easily relieved. However, caring for a stoma can be tedious, especially in younger, more curious children. Infection control issues should be reviewed with parents.

Recovery
According to officials at the National Digestive Disease Information Clearinghouse, after a pull-through procedure, nine out of 10 children are able to pass stool normally. Yet infection, diarrhea and diaper rash can be side effects of the surgery. Endoscopy team members should prepare parents to watch for the following signs of infection: fever, swollen abdomen, vomiting, diarrhea, bleeding from the rectum and sluggishness.² While there are no specific medications to treat this illness, follow-up prescriptions to counter constipation and diarrhea may be necessary.

Health officials at Johns Hopkins are seeking patients to participate in a genetic study of HD. For more information, visit: www.aboutkidsgi.org/research.html#HD.

FDA Approves an Implant for Gastroesophageal Reflux Disease

The U.S. Food and Drug Administration (FDA) has approved Enteryx, a permanently implanted device to help patients with symptoms of gastroesophageal reflux disease (GERD).

The condition occurs when some of the stomach's contents -- including acid -- flow up into the esophagus, causing heartburn and/or burning pain in the chest or back of the throat. More than 60 million American adults experience GERD, and about 25 million of them have daily symptoms.

Inserted through an endoscope procedure, this device prevents the reflux of stomach acid into the throat, potentially allowing patients with chronic GERD to avoid daily medications. Mild heartburn can be treated by adopting dietary changes such as avoiding foods that cause heartburn and eating smaller portions. Treatment of chronic GERD, however, may also require prescription drugs to help maintain a reduced level of acid secretion in the stomach.

The device is a solution made up of a polymer and a solvent which is implanted by injection during an X-ray guided endoscopic procedure into the wall of the lower esophagus. After the injection, the solvent separates and the polymer solidifies into a spongy material that is intended to help prevent the reflux.

The device has been found to help eliminate or reduce the need for medications, and to improve the symptoms of GERD. In a 12-month study of 85 patients conducted in the United States, Canada and Europe, approximately 67 percent of the participants were able to discontinue all of their medications, 9 percent could reduce the dose by at least one-half, and most patients (72 percent) noted an improvement in their symptoms when compared to taking no medications prior to implant.

For more information, visit: www.fda.gov.

Resource Guide

The following organizations can provide additional information to healthcare workers about Hirschsprung's disease:

International Foundation for Functional Gastrointestinal Disorders
iffgd@iffgd.org
www.iffgd.org
(888) 964-2001

Pull-Thru Network
info@pullthrough.org
www.pullthrough.org
(205) 978-2930

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