HARD TO STOMACH

The Baltimore Sun

In one examining room is an adorable 2-year-old girl in pigtails who is finally gaining weight. In the past six weeks, she has put on 2 pounds - in the year before that, she gained just 1.

In another room is an athletic 11-year-old whose debilitating migraines caused her to miss long stretches of school, spend time in two hospital emergency rooms and go back and forth between doctors in an effort to find out why she was so sick.

Down the clinic hallway is a 20-year-old college student who's exhausted all the time with unexplained stomach pains.

All three patients of Dr. Alessio Fasano have different symptoms. Yet all could have the same malady: celiac disease.

This autoimmune disorder interferes with absorption of nutrients from food and is triggered by the consumption of gluten, a protein in wheat and other grains found in many staples of the American diet, including pizza, pasta and bread.

For all the misery they cause, most celiac symptoms disappear with a simple if inconvenient lifestyle alteration: eliminating gluten from the diet. Doctors are working on a pill that could eliminate that hassle, too.

Fasano is a gastroenterologist who directs the Center for Celiac Research at the University of Maryland School of Medicine. In 2003, he found that the disease - once believed to be rare - might instead be found in as many as 3 million people in the United States. That's nearly 1 percent of the population.

Fasano's pioneering study helped persuade the National Institutes of Health to recognize the problem and encourage doctors to look beyond the traditional celiac symptoms of malnutrition and diarrhea in their medical textbooks.

"The problem is celiac disease often is not on their radar screen," Fasano said. They often don't realize celiac can manifest itself as anemia, infertility or any number of medical problems - and can appear at any age.

Now Fasano and his colleagues are trying to build on their research. In a paper published last summer, they

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determined that targeted screening of patients with just one symptom associated with celiac led to a more than 40-fold increase in diagnosis.

The screening is a relatively inexpensive blood test - one that may provide an elusive diagnosis for patients who have been feeling lousy for months or even years.

"The average duration of symptoms before diagnosis is probably 10 years," said Dr. Charles O. Elson, a gastroenterologist at the University of Alabama at Birmingham and chairman of the NIH panel that looked into celiac in 2004.

Fasano and colleagues are at work on an alternative to the gluten-free diet, despite increasing availability of gluten-free foods on supermarket shelves, from Internet vendors and in restaurants.

They hope to develop a pill that a celiac patient can take before eating gluten to enable its digestion - similar to the Lactaid pills taken by lactose-intolerant people who want to eat dairy products.

In Baltimore, at a clinic inside the University of Maryland Medical Center, Fasano sees patients who will learn from him whether they have celiac disease.

For some, a diagnosis will be a relief, an answer to why they have felt so ill for so long - and an answer that is not a death sentence. But others dread the possibility of being sentenced to life without many of their favorite foods.

"The most frustrating part was not knowing what it was," said Mike Benecky, whose 11-year-old daughter, Sarah, received a celiac diagnosis in late October. "But a kid without pizza and chicken nuggets - it takes a lot out of your life."

Benecky said he was surprised about how common celiac is. One of Sarah's soccer teammates has the condition. So does one of his wife's colleagues.

Doctors have long known about celiac disease, but for many years they believed it was a stomach ailment that mainly afflicted children. A Dutch researcher accidentally pinpointed the link between wheat and celiac disease after World War II, when he noted that celiac cases had disappeared when wheat was rationed and replaced in flour by potato starch.

Humans, it seems, may not have been designed to eat wheat, a product that was not around until the dawn of the agricultural age.

In recent years, researchers have learned that celiac disease is not a simple gluten allergy, but a sickness that attacks the intestine in the way diabetes attacks the pancreas or multiple sclerosis attacks the brain.

Left untreated - that is, when patients continue to consume gluten - it can cause long-term damage and lead to increased risks for osteoporosis and even lymphoma.

Celiac disease, Fasano said, is the only autoimmune disorder for which the trigger is known. Those with genes linked to the disease will get sick only when they eat gluten. In diabetes and multiple sclerosis, by way of contrast, the exact triggers remain unknown.

Morris Blanco of Pikesville, a college student at New York's Yeshiva University, has chronic constipation, is tired all the time and has lost weight as he has added and subtracted things from his diet to figure out what is making him sick. He has been poked and prodded for years to no avail.

He came to Fasano for help. But Fasano looked at his bloodwork and other test results, only to conclude this one would not be an easy diagnosis.

"I would consider celiac disease very unlikely," the doctor told Blanco.

Gwen Hedeman was a happy baby who started getting sick when she was about 9 months old. She often had diarrhea and was sleeping 18 to 20 hours a day. She didn't gain weight, and when she stood next to a child her age, she was dwarfed.

The pediatrician was stumped. A second doctor agreed to her mother's request for a celiac screening, since her aunts have the disease. The blood test came back positive a few weeks before Gwen's second birthday. Gluten was quickly eliminated from the toddler's diet, and she is now energetic and gaining weight on track.

"I've seen such a difference in her," said her mother, Jennifer.

The diagnosis still must be confirmed with an endoscopy, an invasive test that involves anesthesia and worries Gwen's parents.

Her mother is concerned because the test would require reverting to a regular diet for a while, which would make her daughter sick again.

But Fasano thinks a lifetime on a gluten-free diet is such a hardship that he advises even young patients like Gwen to have the endoscopy - just to be completely sure.

Cutting out the obvious - the cookies and cakes and breads -isn't as hard as catching the gluten in many other, less obvious foods, where it's used as a glue to hold things together.

Still, Fasano gets great pleasure in telling long-suffering patients that he has figured out what they have - and while the answer isn't easy to deal with, it is within reach.

"What frustrates me is to say, 'I don't know what the heck I can do for you,'" Fasano said. He prefers, "I know what's wrong with you, and I can fix it.

"In medicine, if you find the solution to the problem and have a remedy, you really fulfill your mission."

stephanie.desmon@baltsun.com

Signs of celiac disease

Celiac disease affects patients in different ways. Symptoms may occur in the digestive system or in other parts of the body. Some sufferers have no discernible symptoms, but the most common signs include the following:

Gas

Recurring abdominal bloating and pain

Chronic diarrhea

Constipation

Weight loss/weight gain

Fatigue

Unexplained anemia (a low count of red blood cells causing fatigue)

Bone or joint pain

Osteoporosis

Behavioral changes

Tingling numbness in the legs (from nerve damage)

Muscle cramps

Seizures

Missed menstrual periods (often because of excessive weight loss)

Infertility, recurrent miscarriage

Delayed growth

Failure to thrive in infants

Pale sores inside the mouth, called aphthous ulcers

Tooth discoloration or loss of enamel

Itchy skin rash

Source: National Institute of Diabetes and Digestive and Kidney Diseases

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