The problem is that many of these symptoms overlap with those of other gastrointestinal (GI) conditions, making it hard for doctors to correctly diagnose EPI. “It’s fairly common for physicians to misdiagnose EPI,” says Michelle A. Anderson, MD, an associate professor emerita of medicine in the division of gastroenterology at the University of Michigan Hospital and Health Systems in Ann Arbor who is now in private practice in Scottsdale, Arizona. “A lot of people will come in with nonspecific symptoms. They may say, ‘I have an upset stomach’ or ‘I have bloating.’ The doctor needs to probe to find out what the real issue is.” Even people who are at risk for EPI can go undiagnosed. A study published in April 2020 in the journal Alimentary Pharmacology and Therapeutics found that testing for the condition was “infrequent.” The researchers found that only about 7 percent of people with chronic pancreatitis and 2 percent of people with pancreatic cancer — two at-risk groups — were tested for EPI. If people with EPI are misdiagnosed or remain undiagnosed, they won’t receive a prescription for pancreatic enzyme replacement therapy (PERT), which is the proper treatment for the condition. Without these enzymes, the body isn’t able to process the fat-soluble vitamins A, D, E, and K, something that can lead to vitamin deficiencies and, eventually, complications such as osteoporosis, vision problems, and even neurological issues.
Irritable bowel syndrome: IBS is marked by abdominal pain, bloating, bouts of diarrhea or constipation, and flatulence. People with IBS will see mucus in their stool, says Dr. Anderson, rather than fat. (Fatty stools, or steatorrhea, are a telltale sign of EPI.) Like those of EPI, IBS symptoms tend to occur after eating, but IBS may also be triggered by stress, infection, and other factors.Crohn’s disease: A type of inflammatory bowel disease (IBD), Crohn’s is marked by chronic inflammation of the GI tract, such as the end of the small intestine. As with EPI, notes Anderson, people who have Crohn’s often experience abdominal pain, diarrhea, steatorrhea, and weight loss. But, she adds, Crohn’s also typically causes bloody stools, fever, and anemia, a decrease in red blood cells that can cause fatigue.Ulcerative colitis: People with either EPI or ulcerative colitis can experience abdominal pain, diarrhea, and weight loss, but Anderson says that ulcerative colitis doesn’t typically cause bloating, flatulence, or steatorrhea, though it can trigger mucus — not fat — in stools. Ulcerative colitis is more similar to Crohn’s, in that it’s an IBD, but with colitis, inflammation is located in the large intestine. The two conditions also share symptoms such as anemia, loss of appetite, and bloody stools, as well as some that affect the skin, eyes, and joints.Celiac disease: Celiac disease, or gluten sensitivity, and EPI arguably have the most symptoms in common, says Anderson. Like those with EPI, people with celiac disease experience abdominal pain, bloating, diarrhea, steatorrhea, and weight loss but may also have anemia, and some — about 10 percent of the people she treats, Anderson says — will feel constipated. Another difference is that the diarrhea caused by celiac disease tends to be more watery. While you may primarily notice symptoms of EPI after eating foods that contain fat, people with celiac disease experience symptoms when eating breads, pastas, cereals, and other foods that contain gluten.Infections: In some instances, bowel problems may be a sign of excess bacteria in your small intestine. Small intestinal bacterial overgrowth (SIBO), when the bacteria in the small intestine grow out of control, shares many of the symptoms of EPI. These symptoms include abdominal pain, nausea, and diarrhea.
How EPI Is Diagnosed
According to Anderson, physicians have historically used stool collection studies during the diagnostic process for EPI. During these tests, designed to assess the ability of the pancreas to produce and secrete fat-digesting enzymes, people who are suspected to have EPI are instructed to consume a high-fat diet — more than 100 grams of fat a day, equal to a stick of butter — for two or three days. Doctors then measure the amount of fat in the stool: If there is more than 7 grams over a 24-hour period, it’s considered malabsorption and thus signals EPI. A drawback with this test is that Crohn’s disease and ulcerative colitis may also cause problems with fat absorption, so they would also provide a positive test result — and that doesn’t necessarily mean that something is wrong with the pancreas, says Anderson. Fecal elastase tests are also used to diagnose EPI. Elastase is one of the enzymes produced by the pancreas to help the body digest fat. Low levels of the enzyme in the stool means the pancreas is not producing sufficient amounts — a condition that results in EPI. “If elastase levels are low, we know the problem is in the pancreas, and it’s not something else,” Anderson explains. On the other hand, Anderson notes, if you see blood in your stools, it would indicate that you might have a condition other than EPI. “Bloody stools [indicate] ulcerative colitis, Crohn’s, or maybe even an underlying cancer — not EPI,” she says. According to a study published in March 2019 in the journal Clinical and Experimental Gastroenterology, other tests for EPI include breath tests, pancreatic function tests, and imaging to check if the ducts in the pancreas are functioning. But because EPI’s symptoms overlap with those of many other GI problems, it’s important for doctors to test for EPI if a patient has any conditions that are linked to EPI, such as pancreatitis or cystic fibrosis, or nutritional deficiencies that don’t seem to have a clear cause. Anderson emphasizes that people who suspect they have EPI can — and should — influence their doctor’s decision to test for it, simply by using their own judgment. “I always ask my patients, ‘Do you see fat in the toilet after you go to the bathroom?’ If they look at their stool and see fat globules or an oily sheen, as opposed to thick, yellow mucus or red blood, that’s a pretty specific sign that they have EPI instead of another disease, she says. “It’s not always an easy or comfortable conversation to have, but it can be the key to a timely diagnosis. Additional reporting by Elizabeth Yun
