Starved for attention

Published 5:00 am Thursday, August 10, 2006

In the 1980s, Lynelle Thomas, a professor of health and human performance at Central Oregon Community College, was sure she had celiac disease. After all, she had seen her mother go through the same thing at about the same age 20 years earlier. But she couldn’t find a doctor to confirm the diagnosis.

”After going to about eight different doctors in town – and all very good doctors – I knew what I had, but at that time it was all just colon cancer,” she says.

Or a sensitive stomach. Or Crohn’s disease. Or just nerves. Unfortunately, three decades later, little has changed. Celiac disease – an immune system disorder characterized by an intolerance to a protein called gluten in wheat, rye and barley – remains one of the most underdiagnosed health conditions in the United States. Public health officials say millions of Americans may be affected yet unaware, leaving them at risk for complications such as anemia, osteoporosis or even cancer, despite the existence of an almost foolproof cure.

This year, the National Institutes of Health has launched a nationwide campaign to educate doctors about the symptoms of celiac disease in hopes that more people will be tested and ultimately cured. But they have years of misconceptions and misinformation to undo.

According to the findings of an NIH consensus conference on celiac disease, about 1 percent of the U.S. population, or about 3 million individuals, are affected by the condition. A study from the Center for Celiac Research at the University of Maryland found that celiac disease occurs in one out of every 133 people with no symptoms. The risk is much higher for first-degree relatives of those diagnosed with celiac disease (1 in 22), for second-degree relatives (1 in 39) and patients with any of a number of symptoms (1 in 56).

Yet experts say there are more undiagnosed celiacs in the U.S. than those who know what ails them. That’s in part because consumption of gluten can result in a range of symptoms from mild inconvenience to a major incapacitation. And many celiacs will experience no symptoms at all. The condition primarily affects the gastrointestinal tract, where exposure to gluten triggers the immune system to attack and damage the fingerlike projections called villi on the lining of the small intestines. The damage prevents the digestive system from absorbing nutrients from foods.

The condition can lead to a whole range of symptoms, affecting different people differently. Symptoms may include diarrhea, abdominal pain, weight loss, migraines, irritability and depression. But some patients may not have any gastrointestinal symptoms at all. That makes it less likely they will be referred to a gastroenterologist who would be more familiar with the condition.

Book learning

According to Dr. Michelle Pietzak, a pediatric gastroenterologist with the Keck School of Medicine at the University of Southern California, even some gastroenterologists are not aware of the variable nature of symptoms and simply don’t consider celiac disease unless it’s a textbook example.

”Physicians here in the United States have been taught it’s a rare disease, and that when it happens, it presents in childhood. And the kids present like a child from a third-world country, they have the pot belly and the thin arms and legs, and the chronic diarrhea and they look very malnourished,” she says. ”We’re diagnosing a lot of adults, and the kids don’t always look as sick as that.”

Taught in medical school that celiac disease is a rare condition in the United States, few doctors test for it, and it becomes a self-fulfilling prophecy. Pietzak says even when patients come in specifically asking about celiac disease, doctors are reluctant to test them.

”I do have a lot of physicians say to me, ‘I don’t have any patients with it, so I’m not going to test for it,’” she says. ”We think the prevalence is somewhere around 1 percent. If you have a physician that sees 100 patients a week, they’re missing one a week.”

And because celiac disease is treated with a gluten-free diet, not by prescription drugs, it lacks the medical education and advocacy that drug companies provide for other conditions.

Pietzak points to the gains in awareness for irritable bowel syndrome made in recent years after a drug to treat the condition was introduced. Irritable bowel syndrome, which shares some of the same symptoms and is often mistaken for celiac disease, has profited from the multitude of drug representatives and consumer ads educating doctors and their patients about the condition.

”Now the reps for that drug will visit the doctor’s office and say, ‘Hey, let me tell you teach you about IBS. Let me tell you about the medication,’” Pietzak says. Celiac disease, which is treated solely by a change in diet, has no such army of advocates.

”You don’t have apple farmers knocking on the doctor’s door saying ‘here, have your piece of fruit,’” Pietzak says. ”There’s a lot of money spent on advertising and educating physicians by the pharmaceutical companies. Without having that money to back it up, there’s very little physician awareness.”

As a result, it’s most often the patient who brings up celiac disease to the physician after having read about it, not vice versa.

”It’s one of the few diseases where usually the patient knows a lot more than the physician,” she says. ”Doctors have no idea.”

Unable to get a referral to a specialist from a local doctor, Thomas eventually had to refer herself to a specialist in Portland to have her celiac disease confirmed. She now runs a celiac support group in Bend, helping others to deal with the rigors of going gluten-free.

Playing catch-up

Dr. Stephen James, Director of the Division of Digestive Diseases and Nutrition at the National Institute of Diabetes and Digestive and Kidney Diseases, is now heading up NIH’s campaign to try to bring doctors up to speed on celiac disease and its chimerical nature.

”Most physicians know little or nothing about the disease because they think it’s rare and would rarely think of it in making a diagnosis,” he says. ”The problem is getting to the specialist. How do you ever get out of the hands of a general practitioner or an internist or a pediatrician if they don’t think of it? That’s actually the target audience.”

NIH is partnering with a number of physician groups and celiac patient organizations to help spread the word. But James says it’s a complicated message that he fears may get lost amid the barrage of information doctors receive every day.

”There are very few things that would suggest immediately that you might have celiac disease,” he says. ”The majority of these patients are asymptomatic. That makes it quite difficult to recognize a disease. If you do have symptoms, they don’t point to any particular diagnosis.”

James hopes at the very least that doctors will start to consider celiac disease when they come across unexplained symptoms, such as anemia, migraines or gastrointestinal problems.

”These will be put on the list of second things you think of when it’s not something obvious,” he says.

In Europe, where physicians have been much more attuned to the symptoms that could signal celiac disease, the average time from the onset of symptoms to diagnosis is about six weeks. In the U.S., the average time to diagnosis is about 11 years.

For example, iron deficiency, a common condition among women, is generally treated first by prescribing iron supplements.

”If they don’t respond to iron-replacement therapy, in Europe, you would immediately think that the patient might be malabsorbing iron and may have celiac disease,” James says. ”In the United States, doctors would be much less likely to think of that, just because that’s the way they’ve been trained and that’s their experience.”

Waiting game

Now-retired Joyce Schmidt, of Bend, considers herself lucky that a local doctor thought of celiac disease when her adult daughter, Heidi, was found to be anemic in 2000. Given the strong genetic component, the doctor wanted to test her parents as well.

”I was thinking, ‘oh, it’s her father,’” Schmidt recalls, only to discover later, ”It’s not him. It’s me. I probably had it all my life.”

While Schmidt and her daughter did not suffer through many of the worst symptoms that often lead to an early diagnosis of celiac disease, the long delay in diagnosis put them at risk for other complications.

Schmidt has developed osteoporosis, which affects many celiacs after years of malabsorbing nutrients.

”Through the years, you haven’t been absorbing things,” she says, ”but of course, you didn’t know that.”

Celiac disease can also increase the risk for colon cancer and other auto-immune disorders. With prolonged exposure to gluten, some celiacs will damage their intestines to the point of no return and must be treated with steroids and other aggressive methods.

Such long-term risk and the availability of a relatively simple cure has many experts wondering whether more people should be screened for celiac disease. Doctors can test for certain antibodies in the blood that suggest celiac disease and then confirm the blunting of the villi through a biopsy.

James says that universal screening would end up identifying more false positives than actual cases of celiac disease. And since there is a small risk involved in getting a biopsy, it’s not something to be taken lightly.

”It turns out not to be beneficial to screen the entire population,” he says. ”It turns out to be worse.”

Pietzak says we now screen for many genetic disorders that are less common than celiac disease but admits the tests may miss some cases particularly among children who may not yet produce the antibodies required for a positive test.

”The screening tests are not perfect, but I hope at some point we’re going to screen many more people,” she says.

For now, screening advocates are working on finding groups that might be at higher risk of celiac disease, and for whom screening does make sense. That could include screening all diabetics, everybody with osteoporosis at a young age, anybody with GI lymphoma, or screening all kids with short stature that’s not explained by their parental height.

”There’s a higher prevalence in that group. We think it’s one in 40,” Pietzak says. ”You could even catch more people that way.”

Research is ongoing to better identify at-risk groups in hopes of better targeting screening efforts. But James says, all things considered, individuals with celiac disease are better off than individuals with most other diseases in this country.

”If I had to choose to have any one disease, this would be the one, because it’s largely curable with a healthy diet that just happens to eliminate pizza and other things like that,” he says. ”This is a disease that for almost everyone can be cured without drugs. Sure it’s troublesome, but it’s better than taking expensive, toxic therapies.”