It took three decades to figure out what was making Donna Sawka so sick. Her symptoms — bloating, chronic diarrhea and weight loss — began early in childhood, and they only became worse as she aged.
Nine years ago, after developing severe anemia, a specialist told Ms. Sawka that she had celiac disease. The digestive disorder causes damage to the small intestine when gluten, a protein found in wheat, barley and rye, is ingested. People with the disease need to follow a strict gluten-free diet for the rest of their lives to avoid serious complications like osteoporosis and lymphoma, an immune system cancer.
Ms. Sawka, 48, of Fairless Hills, Pa., said she “was overwhelmed” upon learning she had the disease.
“I kept thinking about everything I wouldn’t be able to eat,” she went on. “I couldn’t even receive communion at church.”
Ms. Sawka’s reaction is a familiar one at the support group she attends. It takes the average patient 10 years to receive a diagnosis. And according to specialists, they are the lucky ones. Studies show that 3 million Americans, or 1 in every 133 people, have celiac disease. But 95 percent of them have yet to learn they have it, according to the National Institutes of Health.
“The entire disease and all of its manifestations are incredibly underdiagnosed,” said Dr. Charles Bongiorno, the chief of the division of gastroenterology and hepatology at the University of Medicine and Dentistry of New Jersey. “Patients often have it for a decade or two before they are diagnosed.”
Celiac disease is often difficult to detect because the symptoms vary so widely from person to person. Ten years ago, the medical community thought it was a rare disorder that affected only 1 in every 10,000 people, primarily children who had digestive problems and failure to thrive.
But physicians now know that the disease is much more common. Most patients never experience the so-called classic symptoms: bloating, chronic diarrhea and stomach upset. Instead, the signs are often as nebulous as anemia, infertility and osteoporosis.
“It’s a problem,” said Dr. Ritu Verma, section chief of gastroenterology, hepatology and nutrition and director of the Children’s Celiac Center at the Children’s Hospital of Philadelphia. “The majority of patients do not have the traditional signs and symptoms. If someone’s only presenting symptom is anemia, physicians will think of a hundred other things before they think of celiac disease.”
As a result, the condition is also commonly mistaken for other ailments. Ms. Sawka, for one, was told she had everything from irritable bowel syndrome to lupus to an allergic reaction from a spider bite before celiac disease was confirmed.
Part of the problem is also a lack of education among physicians, particularly internists. According to Dr. Bongiorno, most primary care physicians are simply unaware of new research that shows the disease is common and can manifest itself in unusual ways.
“They think it is an exotic malady,” he explained. “That persistent fallacy causes a less-than-appropriate effort to order the right blood tests and refer to gastroenterologists for care.”
In 2006, the National Institutes of Health started a campaign to raise awareness of the disease among both the general public and physicians. A goal was to increase rates of diagnosis because, unlike many ailments, there is a definitive way to stop celiac disease from progressing once it is recognized.
“The vast majority of cases experience a complete remission from symptoms once they are diagnosed and go on a gluten-free diet,” said Dr. Stefano Guandalini, director of the University of Chicago Celiac Disease Center. “So essentially, you have no disease. That is what makes it all the more important to be diagnosed.”
And there is no better time to be on a gluten-free diet. In 2008, 832 gluten-free products entered the market, nearly 6 times the number that debuted in 2003. Last year, gluten-free even emerged as a fad diet in the general population.
“The quantity and quality of these products is amazing,” said Dr. Alessio Fasano, the medical director of the Center for Celiac Research at the University of Maryland Medical Center.
Dr. Fasano said gluten-free products used to taste like cardboard but had significantly improved in recent years. “The only problem,” he said, “is that they cost five or six times more than their normal counterparts.”
Researchers are also beginning to experiment with drugs that may be able to block the immune response to gluten, much like a lactate pill. If the clinical trials are successful, individuals with celiac disease may be someday able to ingest small amounts of gluten.
Until then, the gluten-free diet is working for patients like Ms. Sawka. “I am perfect now,” she said after 35 years of feeling sick. “Every system in my body was in an uproar, and then everything just quieted down.”