I am a 23 year old female and I have been having abdominal pain and intermittent diarrhea for 3 years. I've undergone colonoscopy, upper endoscopy and even a small bowel series, and they have all been normal. Two of my cousins have been diagnosed with Crohn's disease. Is it possible that I have it despite the negative studies?
There is certainly an increased incidence of Crohn's disease in patients with a family history of Crohn's disease, but even without that history, Crohn's disease should be considered in any young patient with symptoms such as yours. Crohn's disease can be a difficult diagnosis to make. Recent available tests have however made it a little bit easier. First of all, colonoscopy, unless the ileum is intubated with the colonoscope, will only diagnose Crohn's if involves the colon. About one-third of the time Crohn's involves only the small bowel (ileum), about one-third of the time it involves only the colon and about one-third of the time it involves both the small bowel and colon. Secondly, as small bowel series is a barium X-ray, like a barium enema, it can definitely be normal despite small bowel involvement with Crohn's disease. Wireless small bowel capsule endoscopy is the best test to evaluate the small bowel for Crohn's disease. Ulcerations and inflammation in the small bowel can easily be seen a capsule. The capsule is a non-invasive way to image the small intestine. The patient shows up, not eating anything after midnight. An ambulatory monitor is hooked up to the patient, and a pill-camera, the size of a large vitamin is ingested. As the pill-camera makes its way through the gastrointestinal tract, thousands of pictures are taken over the eight hour life of the pill-camera battery. Patients are able to eat a light lunch after about three to four hours, the by that time the camera should be out of the stomach. The camera, which is disposable, is lost in bowel movements, and the patient returns to the office after eight hours to return the monitor. The monitor is then downloaded, and your physician can watch a video made up of the thousands of pictures as the camera progresses through the small bowel. In addition to looking for Crohn's disease, the pill-camera is a great test to evaluate the small bowel in patients with occult gastrointestinal bleeding, small bowel polyps and possible celiac sprue.
In addition to the wireless small bowel capsule endoscopy, there are newer blood tests that can help diagnose Crohn's disease in patients such as yourself. Given your symptoms and your negative tests thus far, if you do not have Crohn's disease, you likely suffer from irritable bowel syndrome. In addition to some things in the history that might differentiate the two (In Crohn's, patients can have weight loss, gastrointestinal bleeding, fever, while in Irritable Bowel Syndrome, there is not going to be weight loss, bleeding or fever, and pain will usually improve after a bowel movement and not awake the patient at night), initial blood tests that are usually elevated in inflammatory processes such as Crohn's disease, ESR or erythrocyte sedimentation rate, and C-reactive protein, should be checked. Finally, Prometheus has developed genetic marker testing that can be highly sensitive and specific in the diagnosis of inflammatory bowel disease and specifically Crohn's disease, the Prometheus IBD serology-7. Recently, they have also developed similar markers that can aid in the diagnosis of both celiac sprue and inflammatory bowel disease. You should check with your doctor to see if he feels that genetic marker studies and wireless capsule endoscopy are appropriate tests for you.