What is Hirschsprung Disease?

Hirschsprung disease, also known as toxic megacolon, is a life threatening intestinal obstruction seen in children.

When a fetus is developing in the womb, each type of cell must successfully migrate to where it belongs and, once there, perform their assigned duties. In this case, the cells, neuroblasts, do not make it to their destination in the distal intestine or they arrive but forget to do their job.

The condition is relatively rare, only occurring in 1 in every 5,000 live births. It is four times more common in males, and the risk is increased in Down syndrome or if a family history is present.

One of the most telltale signs that an infant is suffering from Hirschsprung Disease is the failure of an infant to pass his or her first bowel movement, known as meconeum, within the first 24 hours of life. Other signs include abdominal distention, bilious (yellow bile) vomiting, jaundice and feeding intolerance.

Over 80% of cases occur in infants, but occasionally the condition is seen in older children. In these cases, the child may show signs of chronic constipation, abdominal distention, failure to thrive, fever, diarrhea, vomiting, explosive stools and/or overflow incontinence. These children typically have intermittent problems with having a proper bowel movement, often on laxatives to ease their pain.

The pediatrician will do a physical examination when he or she suspects intestinal obstruction, looking for abdominal distention and a tight anal sphincter. An abdominal x-ray will typically show a dilated section of bowel preceding the area of obstruction. If enterocolitis is ruled out, a contrast enema will be performed, though this test is only 70% sensitive (83% specific). The disease is confirmed by a pathologist following a suction rectal biopsy performed by a surgeon.

If the child is over 12 months old, this condition is very unlikely. Other conditions that may mimic this condition include functional constipation, medication side effects, lead poisoning, sepsis, intussusception, meconeum ileus, meckel diverticulum, hypothyroidism and intestinal malrotation, atresia or stenosis.

Studies have shown that these infants, especially if preterm, also have an increased risk for other congenital abnormalities, such as heart problems, so a doctor may decide to do a thorough workup.

The immediate treatment for Hirschsprung Disease is to “decompress” the bowel obstruction using a nasogastric tube, antibiotics and IV fluids. Once the child is stable, a surgeon will fix the abnormality by removing the affected area of bowel (Pull-through procedure). If the surgery is successful and infection (enterocolitis) is avoided, the prognosis is excellent (<1% mortality) and the child will live a normal life.

Reference

Hirschsprung Disease. DynaMed Database Accessed May 23, 2014, Updated January 24, 2013.

Why YOU May Have Gluten Sensitivity

Unless you've been living under a rock for the past year, you've noticed the words "gluten free" advertised in your local grocery store or muttered by that coworker who always boasts about her latest fad diet. You may even have peeked at a gluten-free section of the store and had to pick your jaw up off the ground in response to the exorbitant prices. What is all this nonsense? As it turns out, this nonsense is being scientifically validated, and may concern you or someone you care about. 

Our journey begins with those amber waves of grain that sway in the wind and symbolize our country. The grain is essentially grass, typically wheat, barley or rye, containing small seeds. These grain seeds are made of two key proteins called gliadin and gluten. Grinding gliadin and gluten into flour creates an extremely sticky powder that, when added to water, forms dough. 

Over 10,000 years ago, humans discovered dough, thus introducing the gluten/gliadin combination to their guts. Over time, the human gut began tolerating these foreign proteins. As many as 1 in 100 individuals, however, have not been as fortunate and instead developed gluten intolerance known as Celiac Disease (CD). Their immune systems viciously attack the gliadin in the gut as soon as it's introduced, typically between 6 and 24 months of age, causing severe abdominal pain, chronic diarrhea and vitamin malabsorption. By the 1990's, doctors had nearly deciphered this autoimmune disease, including it's association with conditions such as Down syndrome and type I diabetes, concluding that a gluten-free diet (GFD) cures over 90% of patients. 

Fast forward to the 21st century. The term "wheat belly" and the GFD are adopted by select non-celiac Americans. The feeling they get on this diet is so unmistakeable-less bloated with increased lucidity and energy-that they're willing to pay a premium for gluten-free foods. These patients are thought to be suffering from non-celiac gluten sensitivity (NCGS). NCGS is a mild disease characterized by normal small bowel biopsies (a diagnostic criteria for CD). NCGS likely affects 6-7% of the population, with some reporting incidences as high as 50%. Still, it's estimated that nearly 1/3 of the American population has tried a GFD, leading to nearly 5 billion dollars a year in profits for the gluten-free industry. Studies continue to disagree on whether this trendy diet is truly palliative or yet another case of the placebo effect. More research is needed to determine the true characteristics of gluten sensitivity.

1 in 14 people may be suffering from gluten sensitivity, and the gluten-free industry wants YOU to join the ranks... is it worth the cost?

• Recent research has revealed that the toxic effect attributed to gluten may instead be due to another substance within grain seeds called wheat germ agglutinin (WGA). Studies are reporting the toxic effects this lectin may have on human cells. Stay tuned for more on this topic.

• Implementation of a true GFD is not as simple as it sounds, considering wheat is found in many sauces, processed lunch meats, candies, pre-seasoned meats and marinades. Alternative dietary sources of carbohydrates tolerated by celiacs include rice, soybeans, potatoes and corn. Always consult your physician or dietician before significantly altering your diet.

• NCGS remains a distinct and benign condition, and is not considered a precursor for CD. Therefore, there is no elevated risk of developing cerebellar ataxia, peripheral neuropathy, seizures, dermatitis herpetiformis or cancers such as intestinal T cell lymphoma.

• For more information, visit celiac.org or one of our many trusted resources accessible from TheDailyDiagnosis.com

References

Biesiekierski, JR. No effects of gluten in patients with self-reported non-celiac gluten sensitivity after dietary reduction of fermentable, poorly absorbed, short-chain carbohydrates. Gastroenterol 2013; 145(2): 320-8.

Biesiekierski et al. Gluten Causes Gastrointestinal Symptoms in Subjects Without Celiac Disease: A Double-Blind Randomized Placebo-Controlled Trial. Amer J of Gastroent. Advance online publication, Jan. 11, 2011.

Fasano A et al. Clinical practice. Celiac disease. N Engl J Med. 2012; 367(25): 2419–26.

Pietzak, M. Celiac disease, wheat allergy, and gluten sensitivity: when gluten free is not a fad. JPEN J Parenter Enteral Nutr. 2012; 36(1 Suppl): 68S-75S.